[ { "uniprot_canonical_ac": "Q9D806-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 199, "chemical_mass": 22564.0, "gene_names": "Vstm5;2200002K05Rik;Vstm5", "protein_name": "V-set and transmembrane domain-containing protein 5", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" }, { "name": "positive regulation of excitatory synapse assembly", "id": "GO:1904891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904891", "evidence": [ { "database": "UniProtKB", "id": "Q9D806", "url": "https://www.uniprot.org/uniprotkb/Q9D806" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D806-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q9D806", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D806#ptm_processing" }, { "id": "28746350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28746350" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->YGS).", "chr_id": "9", "chr_pos": "15168738", "evidence": [ { "id": "rs3389025733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389025733" } ] } ] }, { "uniprot_canonical_ac": "Q9D806-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Asn108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 108, "start_aa": "Asn", "end_pos": 108, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn108", "evidence": [ { "id": "28746350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28746350" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9D806-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Asn43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 43, "start_aa": "Asn", "end_pos": 43, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn43", "evidence": [ { "id": "Q9D806", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D806#ptm_processing" }, { "id": "28746350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28746350" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9D806-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q9D806", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D806#ptm_processing" }, { "id": "28746350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28746350" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9D806-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVG).", "chr_id": "9", "chr_pos": "15168765", "evidence": [ { "id": "rs252761640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252761640" } ] } ] } ], "record_id": "Q9D806-1" }, { "uniprot_canonical_ac": "T1NXB5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 319, "chemical_mass": 35899.0, "gene_names": "Vstm4;E130203B14Rik;Vstm4", "protein_name": "V-set and transmembrane domain-containing protein 4", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" } ], "biological_process": [ { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" }, { "name": "retina blood vessel maintenance", "id": "GO:0097601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097601", "evidence": [ { "database": "UniProtKB", "id": "T1NXB5", "url": "https://www.uniprot.org/uniprotkb/T1NXB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "T1NXB5-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "T1NXB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/T1NXB5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "T1NXB5-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "T1NXB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/T1NXB5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "T1NXB5-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "T1NXB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/T1NXB5#ptm_processing" } ] } ] } ], "record_id": "T1NXB5-1" }, { "uniprot_canonical_ac": "G5E870-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2025, "chemical_mass": 224128.0, "gene_names": "Trip12;1110036I07Rik;6720416K24Rik;Gtl6;TRIP-12;Trip12", "protein_name": "E3 ubiquitin-protein ligase TRIP12", "disease": [ { "disease_id": "DOID:0080234", "name": "Clark-Baraitser syndrome", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.", "url": "https://disease-ontology.org/term/DOID:0080234", "evidence": [ { "id": "0080234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080234" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "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": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "heterochromatin boundary formation", "id": "GO:0033696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033696", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G5E870-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Thr764", "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": 764, "start_aa": "Thr", "end_pos": 764, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr764", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "G5E870", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SASPDYNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "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": "G5E870-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Asn840", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49018RC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PNPLANSNTSGYSELK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "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": "G5E870-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Ser1024", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Ser1030", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1049", "end_pos": "1049", "site_lbl": "Ser1049", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ser1063", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Ser1350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1355", "end_pos": "1355", "site_lbl": "Ser1355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1362", "end_pos": "1362", "site_lbl": "Ser1362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Ser1409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1410", "end_pos": "1410", "site_lbl": "Thr1410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1460", "end_pos": "1460", "site_lbl": "Ser1460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "975", "end_pos": "975", "site_lbl": "Ser975", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E870", "url": "https://www.uniprot.org/uniprotkb/G5E870" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "G5E870", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E870" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1548", "end_pos": "1548", "site_lbl": "Gln1548", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRQ->NRS).", "chr_id": "1", "chr_pos": "84716527_84716528insATACCCGACAAATGCTTTTTTATGTAACTGCATT", "evidence": [ { "id": "rs3390217491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390217491" } ] } ] }, { "uniprot_canonical_ac": "G5E870-1", "start_pos": "1555", "end_pos": "1555", "site_lbl": "Ile1555", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IMT->NMT).", "chr_id": "1", "chr_pos": "84717283", "evidence": [ { "id": "rs3388482639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388482639" } ] } ] } ], "record_id": "G5E870-1" }, { "uniprot_canonical_ac": "P01831-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 162, "chemical_mass": 18080.0, "gene_names": "Thy1;CD90;T25;Thy-1.2;Thy-1;Thy1.1;Thy1.2;Thy1", "protein_name": "Thy-1 membrane glycoprotein", "disease": [ { "disease_id": "DOID:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "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": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" } ], "molecular_function": [ { "name": "GPI anchor binding", "id": "GO:0034235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034235", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "regulation of cell-matrix adhesion", "id": "GO:0001952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001952", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "retinal cone cell development", "id": "GO:0046549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046549", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of cellular extravasation", "id": "GO:0002693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002693", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "negative regulation of neuron projection regeneration", "id": "GO:0070571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070571", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P01831", "url": "https://www.uniprot.org/uniprotkb/P01831" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01831-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "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": 110, "start_aa": "Ser", "end_pos": 110, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser110", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P01831", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P01831" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P01831-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asn118", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DEGDYFCELQVSGANPMSSNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "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" } ] }, { "glytoucan_ac": "G46902YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G65092SV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G80223IX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "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": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "P01831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01831#ptm_processing" }, { "id": "6177036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/6177036" } ] } ] }, { "uniprot_canonical_ac": "P01831-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HENNTKDNSIQHEFSLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G10773YW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G24835MQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G29880MM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G31916IQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G44215PV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G46687AB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G54612UD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G65092SV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G70418MS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G70961NC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G72735IY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G74430RZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G76613WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G85228QD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G93180LE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "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": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "P01831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01831#ptm_processing" }, { "id": "6177036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/6177036" } ] } ] }, { "uniprot_canonical_ac": "P01831-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "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": 44, "start_aa": "Thr", "end_pos": 44, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr44", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P01831", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P01831" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P01831", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P01831" } ] } ] }, { "uniprot_canonical_ac": "P01831-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "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": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P01831", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P01831" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P01831-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G29880MM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G74430RZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G79666IR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLTLANFTTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "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" } ] }, { "glytoucan_ac": "G80223IX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G82830MN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2769", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2769" } ] }, { "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": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "P01831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01831#ptm_processing" }, { "id": "6177036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/6177036" } ] } ] } ], "record_id": "P01831-1" }, { "uniprot_canonical_ac": "Q8K1S4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 898, "chemical_mass": 98857.0, "gene_names": "Unc5a;Kiaa1976;Unc5a;Unc5h1;mKIAA1976", "protein_name": "Netrin receptor UNC5A", "disease": [], "cellular_component": [ { "name": "neuron projection membrane", "id": "GO:0032589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032589", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "netrin-activated signaling pathway", "id": "GO:0038007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038007", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" }, { "name": "anterior/posterior axon guidance", "id": "GO:0033564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033564", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "netrin receptor activity", "id": "GO:0005042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005042", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S4", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asn107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asn218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LADTANYTCVAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 218, "start_aa": "Asn", "end_pos": 218, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn218", "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" } ] }, { "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": 218, "start_aa": "Asn", "end_pos": 218, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn218", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Trp245", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61491DK", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 245, "start_aa": "Trp", "end_pos": 245, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp245", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 245, "start_aa": "Trp", "end_pos": 245, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp245", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Trp248", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61491DK", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 248, "start_aa": "Trp", "end_pos": 248, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp248", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 248, "start_aa": "Trp", "end_pos": 248, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp248", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Trp251", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61491DK", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 251, "start_aa": "Trp", "end_pos": 251, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp251", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 251, "start_aa": "Trp", "end_pos": 251, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp251", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Trp301", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61491DK", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 301, "start_aa": "Trp", "end_pos": 301, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp301", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 301, "start_aa": "Trp", "end_pos": 301, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp301", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Trp304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61491DK", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 304, "start_aa": "Trp", "end_pos": 304, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp304", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan;C-mannosylation", "icn3d_view": {}, "start_pos": 304, "start_aa": "Trp", "end_pos": 304, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp304", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" }, { "id": "28202721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28202721" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Asn343", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 343, "start_aa": "Asn", "end_pos": 343, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn343", "evidence": [ { "id": "Q8K1S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K1S4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Thr421", "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": 421, "start_aa": "Thr", "end_pos": 421, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr421", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8K1S4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K1S4" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "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": 427, "start_aa": "Ser", "end_pos": 427, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser427", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8K1S4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K1S4" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8K1S4-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Thr431", "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": 431, "start_aa": "Thr", "end_pos": 431, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr431", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8K1S4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K1S4" } ] } ] } ], "record_id": "Q8K1S4-1" }, { "uniprot_canonical_ac": "Q9CYV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 458, "chemical_mass": 52364.0, "gene_names": "Tmem135;2810439K08Rik;PMP52;Tmem135", "protein_name": "Transmembrane protein 135", "disease": [], "biological_process": [ { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9CYV5", "url": "https://www.uniprot.org/uniprotkb/Q9CYV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CYV5-1" }, { "uniprot_canonical_ac": "Q62318-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 834, "chemical_mass": 88847.0, "gene_names": "Trim28;KAP-1;KRIP-1;Kap1;Krip1;MommeD9;Tif1beta;Tif1b;Trim28", "protein_name": "Transcription intermediary factor 1-beta", "disease": [], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "epigenetic programming of gene expression", "id": "GO:0043045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043045", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "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": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "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": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "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": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "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": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "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": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "id": "GO:0045869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045869", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "genomic imprinting", "id": "GO:0071514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071514", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "convergent extension involved in axis elongation", "id": "GO:0060028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060028", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "DNA methylation-dependent constitutive heterochromatin formation", "id": "GO:0006346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "embryonic placenta morphogenesis", "id": "GO:0060669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060669", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" } ], "molecular_function": [ { "name": "SUMO ligase activity", "id": "GO:0061665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061665", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "Krueppel-associated box domain binding", "id": "GO:0035851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035851", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "chromo shadow domain binding", "id": "GO:0070087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070087", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "chromatin-protein adaptor activity", "id": "GO:0140463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140463", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62318-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "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": 12, "start_aa": "Ser", "end_pos": 12, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser12", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q62318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62318" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q62318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40574BA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PGTNSTGPGPMAPPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "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": "Q62318-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Thr8", "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": 8, "start_aa": "Thr", "end_pos": 8, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr8", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q62318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62318" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q62318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ser440", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Ser471", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ser473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" }, { "database": "PubMed", "id": "33657380", "url": "https://glygen.org/publication/PubMed/33657380" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Thr498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ser594", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "752", "end_pos": "752", "site_lbl": "Ser752", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Tyr755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" } ] } ], "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "7", "chr_pos": "12764451", "evidence": [ { "id": "rs3388871729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388871729" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Ser757", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Ser784", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" } ] } ] }, { "uniprot_canonical_ac": "Q62318-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62318", "url": "https://www.uniprot.org/uniprotkb/Q62318" }, { "database": "iPTMnet", "id": "Q62318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62318" }, { "database": "PubMed", "id": "20508149", "url": "https://glygen.org/publication/PubMed/20508149" }, { "database": "PubMed", "id": "28648892", "url": "https://glygen.org/publication/PubMed/28648892" } ] } ] } ], "record_id": "Q62318-1" }, { "uniprot_canonical_ac": "Q9R1C0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 39126.0, "gene_names": "Taf7;55kDa;TAFII55;Taf2f;Taf7", "protein_name": "Transcription initiation factor TFIID subunit 7", "disease": [ { "disease_id": "DOID:14228", "name": "oligospermia", "description": "A male fertility issue defined as a low sperm concentration in the ejaculate.", "url": "https://disease-ontology.org/term/DOID:14228", "evidence": [ { "id": "14228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14228" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "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": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "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": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "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": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "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": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "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": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "negative regulation of MHC class II biosynthetic process", "id": "GO:0045347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045347", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "RNA polymerase II preinitiation complex assembly", "id": "GO:0051123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051123", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "negative regulation of MHC class I biosynthetic process", "id": "GO:0045344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045344", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" } ], "cellular_component": [ { "name": "transcription factor TFTC complex", "id": "GO:0033276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033276", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "histone H3K27me3 reader activity", "id": "GO:0061628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061628", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "nuclear vitamin D receptor binding", "id": "GO:0042809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042809", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "TFIIH-class transcription factor complex binding", "id": "GO:0001097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001097", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "RNA polymerase II general transcription initiation factor activity", "id": "GO:0016251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016251", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "P-TEFb complex binding", "id": "GO:0106140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106140", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "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": 74, "start_aa": "Thr", "end_pos": 74, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr74", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9R1C0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9R1C0" }, { "id": "Q9R1C0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1C0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1C0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C0-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C0", "url": "https://www.uniprot.org/uniprotkb/Q9R1C0" }, { "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": "Q9R1C0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C0" } ] } ] } ], "record_id": "Q9R1C0-1" }, { "uniprot_canonical_ac": "Q9QUK6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 835, "chemical_mass": 95519.0, "gene_names": "Tlr4;Lps;Ly87;Ran/M1;Rasl2-8;Tlr4", "protein_name": "Toll-like receptor 4", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection.", "url": "https://disease-ontology.org/term/DOID:0080158", "evidence": [ { "id": "0080158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "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:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "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:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11121", "name": "pulpitis", "description": "A dental pulp disease characterized by inflammation.", "url": "https://disease-ontology.org/term/DOID:11121", "evidence": [ { "id": "11121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11121" } ], "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:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:11823", "name": "hepatorenal syndrome", "description": "An acute kidney failure that is characterized by severe renal vasoconstriction.", "url": "https://disease-ontology.org/term/DOID:11823", "evidence": [ { "id": "11823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11823" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "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: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:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "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:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening 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: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: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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: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:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "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:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "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: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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of interleukin-13 production", "id": "GO:0032736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032736", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "wound healing involved in inflammatory response", "id": "GO:0002246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002246", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "regulation of dendritic cell cytokine production", "id": "GO:0002730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002730", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway", "id": "GO:0070430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070430", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of matrix metallopeptidase secretion", "id": "GO:1904466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904466", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "B cell proliferation involved in immune response", "id": "GO:0002322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002322", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "leukotriene metabolic process", "id": "GO:0006691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006691", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "activation of NF-kappaB-inducing kinase activity", "id": "GO:0007250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007250", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "mast cell activation", "id": "GO:0045576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045576", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "nitric oxide production involved in inflammatory response", "id": "GO:0002537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002537", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "I-kappaB phosphorylation", "id": "GO:0007252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007252", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "innate immune response-activating signaling pathway", "id": "GO:0002758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002758", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 production", "id": "GO:0032732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032732", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "intestinal epithelial structure maintenance", "id": "GO:0060729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060729", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0002755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002755", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "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": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "TRIF-dependent toll-like receptor signaling pathway", "id": "GO:0035666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035666", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "detection of lipopolysaccharide", "id": "GO:0032497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032497", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of lymphocyte proliferation", "id": "GO:0050671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050671", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034143", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "NK T cell activation", "id": "GO:0051132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051132", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of cellular response to macrophage colony-stimulating factor stimulus", "id": "GO:1903974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903974", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070434", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-23 production", "id": "GO:0032707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032707", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "microglia differentiation", "id": "GO:0014004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014004", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "growth plate cartilage morphogenesis", "id": "GO:0003422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003422", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "lipopolysaccharide receptor complex", "id": "GO:0046696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046696", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "lipopolysaccharide immune receptor activity", "id": "GO:0001875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001875", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK6", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Asn172", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:172;+center+selection;+zoom+selection" }, "start_pos": 172, "start_aa": "Asn", "end_pos": 172, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn172", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "3VQ2", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ2" }, { "id": "3VQ2", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ2" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "2Z64|A|172", "database": "", "url": "" }, { "id": "3VQ2|A|172", "database": "", "url": "" }, { "id": "5IJC|A|172", "database": "", "url": "" }, { "id": "8WQT|B|172", "database": "", "url": "" }, { "id": "8WQT|A|172", "database": "", "url": "" }, { "id": "8WRY|B|172", "database": "", "url": "" }, { "id": "8WRY|A|172", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3VQ2&bu=0&command=select+.A:204;+center+selection;+zoom+selection" }, "start_pos": 204, "start_aa": "Asn", "end_pos": 204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn204", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "3VQ2", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ2" }, { "id": "3VQ2", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ2" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "3VQ2|A|204", "database": "", "url": "" }, { "id": "5IJB|A|204", "database": "", "url": "" }, { "id": "5IJC|B|204", "database": "", "url": "" }, { "id": "8WSA|B|204", "database": "", "url": "" }, { "id": "8WSA|A|204", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Asn237", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNFNSSNIMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 237, "start_aa": "Asn", "end_pos": 237, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn237", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:237;+center+selection;+zoom+selection" }, "start_pos": 237, "start_aa": "Asn", "end_pos": 237, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn237", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "2Z64|A|237", "database": "", "url": "" }, { "id": "5IJB|A|237", "database": "", "url": "" }, { "id": "5IJC|B|237", "database": "", "url": "" }, { "id": "5IJC|A|237", "database": "", "url": "" }, { "id": "8WQT|B|237", "database": "", "url": "" }, { "id": "8WQT|A|237", "database": "", "url": "" }, { "id": "8WRY|B|237", "database": "", "url": "" }, { "id": "8WRY|A|237", "database": "", "url": "" }, { "id": "8WSA|B|237", "database": "", "url": "" }, { "id": "8WSA|A|237", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asn307", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:307;+center+selection;+zoom+selection" }, "start_pos": 307, "start_aa": "Asn", "end_pos": 307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn307", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "5IJD", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJD" }, { "id": "5IJD", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJD" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "2Z64|A|307", "database": "", "url": "" }, { "id": "5IJD|A|307", "database": "", "url": "" }, { "id": "5IJC|B|307", "database": "", "url": "" }, { "id": "5IJC|A|307", "database": "", "url": "" }, { "id": "8WQT|B|307", "database": "", "url": "" }, { "id": "8WQT|A|307", "database": "", "url": "" }, { "id": "8WRY|B|307", "database": "", "url": "" }, { "id": "8WRY|A|307", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asn34", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:34;+center+selection;+zoom+selection" }, "start_pos": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "2Z64|A|34", "database": "", "url": "" }, { "id": "8WQT|B|34", "database": "", "url": "" }, { "id": "8WQT|A|34", "database": "", "url": "" }, { "id": "8WRY|B|34", "database": "", "url": "" }, { "id": "8WRY|A|34", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Asn492", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:492;+center+selection;+zoom+selection" }, "start_pos": 492, "start_aa": "Asn", "end_pos": 492, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn492", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJB", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJB" }, { "id": "5IJD", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJD" }, { "id": "5IJD", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJD" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "5IJC", "database": "PDB", "url": "https://www.rcsb.org/structure/5IJC" }, { "id": "7MLM", "database": "PDB", "url": "https://www.rcsb.org/structure/7MLM" }, { "id": "7MLM", "database": "PDB", "url": "https://www.rcsb.org/structure/7MLM" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "2Z64|A|492", "database": "", "url": "" }, { "id": "5IJB|A|492", "database": "", "url": "" }, { "id": "5IJD|B|492", "database": "", "url": "" }, { "id": "5IJD|A|492", "database": "", "url": "" }, { "id": "5IJC|B|492", "database": "", "url": "" }, { "id": "5IJC|A|492", "database": "", "url": "" }, { "id": "7MLM|A|492", "database": "", "url": "" }, { "id": "8WQT|B|492", "database": "", "url": "" }, { "id": "8WQT|A|492", "database": "", "url": "" }, { "id": "8WRY|B|492", "database": "", "url": "" }, { "id": "8WRY|A|492", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Asn495", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 495, "start_aa": "Asn", "end_pos": 495, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn495", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Asn524", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7MLM&bu=0&command=select+.A:524;+center+selection;+zoom+selection" }, "start_pos": 524, "start_aa": "Asn", "end_pos": 524, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn524", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "7MLM", "database": "PDB", "url": "https://www.rcsb.org/structure/7MLM" }, { "id": "7MLM", "database": "PDB", "url": "https://www.rcsb.org/structure/7MLM" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "7MLM|A|524", "database": "", "url": "" }, { "id": "8WSA|B|524", "database": "", "url": "" }, { "id": "8WSA|A|524", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asn572", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G50303LH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLAFFNLTNNSVACICEHQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 572, "start_aa": "Asn", "end_pos": 572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn572", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3VQ1&bu=0&command=select+.B:572;+center+selection;+zoom+selection" }, "start_pos": 572, "start_aa": "Asn", "end_pos": 572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn572", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "3VQ1", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ1" }, { "id": "3VQ1", "database": "PDB", "url": "https://www.rcsb.org/structure/3VQ1" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "8WSA", "database": "PDB", "url": "https://www.rcsb.org/structure/8WSA" }, { "id": "3VQ1|B|572", "database": "", "url": "" }, { "id": "8WSA|B|572", "database": "", "url": "" }, { "id": "8WSA|A|572", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Asn575", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63703BK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLAFFNLTNNSVACICEHQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 575, "start_aa": "Asn", "end_pos": 575, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn575", "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" } ] }, { "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": 575, "start_aa": "Asn", "end_pos": 575, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn575", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Asn613", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 613, "start_aa": "Asn", "end_pos": 613, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn613", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Asn621", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 621, "start_aa": "Asn", "end_pos": 621, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn621", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Asn622", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 622, "start_aa": "Asn", "end_pos": 622, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn622", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Asn75", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z64&bu=0&command=select+.A:75;+center+selection;+zoom+selection" }, "start_pos": 75, "start_aa": "Asn", "end_pos": 75, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "Q9QUK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUK6#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "2Z64", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z64" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WQT", "database": "PDB", "url": "https://www.rcsb.org/structure/8WQT" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "8WRY", "database": "PDB", "url": "https://www.rcsb.org/structure/8WRY" }, { "id": "2Z64|A|75", "database": "", "url": "" }, { "id": "8WQT|B|75", "database": "", "url": "" }, { "id": "8WQT|A|75", "database": "", "url": "" }, { "id": "8WRY|B|75", "database": "", "url": "" }, { "id": "8WRY|A|75", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "4", "chr_pos": "66752264", "evidence": [ { "id": "rs5526655216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526655216" } ] } ] }, { "uniprot_canonical_ac": "Q9QUK6-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "4", "chr_pos": "66758323", "evidence": [ { "id": "rs5526655240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526655240" } ] } ] } ], "record_id": "Q9QUK6-1" }, { "uniprot_canonical_ac": "Q9QUN7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 784, "chemical_mass": 89449.0, "gene_names": "Tlr2;Ly105;Tlr2", "protein_name": "Toll-like receptor 2", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "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:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "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:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "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: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3178" } ], "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: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:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8867", "name": "molluscum contagiosum", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.", "url": "https://disease-ontology.org/term/DOID:8867", "evidence": [ { "id": "8867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8867" } ], "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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "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": "DOID:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "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 } ], "biological_process": [ { "name": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "central nervous system myelin formation", "id": "GO:0032289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032289", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "regulation of dendritic cell cytokine production", "id": "GO:0002730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002730", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "detection of diacyl bacterial lipopeptide", "id": "GO:0042496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042496", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to bacterial lipopeptide", "id": "GO:0071221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071221", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of matrix metallopeptidase secretion", "id": "GO:1904466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904466", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "microglia development", "id": "GO:0014005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014005", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "leukotriene metabolic process", "id": "GO:0006691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006691", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis", "id": "GO:0050765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050765", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "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": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "toll-like receptor TLR6:TLR2 signaling pathway", "id": "GO:0038124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038124", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to diacyl bacterial lipopeptide", "id": "GO:0071726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071726", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "detection of triacyl bacterial lipopeptide", "id": "GO:0042495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042495", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to peptidoglycan", "id": "GO:0071224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "toll-like receptor 2 signaling pathway", "id": "GO:0034134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034134", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "response to molecule of fungal origin", "id": "GO:0002238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002238", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of striated muscle cell apoptotic process", "id": "GO:0010663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010663", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0002755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002755", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "response to peptidoglycan", "id": "GO:0032494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032494", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "toll-like receptor TLR1:TLR2 signaling pathway", "id": "GO:0038123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038123", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cellular response to triacyl bacterial lipopeptide", "id": "GO:0071727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071727", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "positive regulation of cellular response to macrophage colony-stimulating factor stimulus", "id": "GO:1903974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903974", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "negative regulation of synapse assembly", "id": "GO:0051964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051964", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "response to bacterial lipoprotein", "id": "GO:0032493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032493", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "triacyl lipopeptide binding", "id": "GO:0042497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042497", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "Toll-like receptor binding", "id": "GO:0035325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035325", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "lipopeptide binding", "id": "GO:0071723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071723", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "diacyl lipopeptide binding", "id": "GO:0042498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042498", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "Toll-like receptor 1-Toll-like receptor 2 protein complex", "id": "GO:0035354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035354", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" }, { "name": "Toll-like receptor 2-Toll-like receptor 6 protein complex", "id": "GO:0035355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035355", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Asn147", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2Z81&bu=0&command=select+.A:147;+center+selection;+zoom+selection" }, "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "Q9QUN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7#ptm_processing" }, { "id": "17889651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17889651" }, { "id": "19931471", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19931471" }, { "id": "26283364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26283364" }, { "id": "2Z81", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z81" }, { "id": "2Z81", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z81" }, { "id": "2Z82", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z82" }, { "id": "2Z82", "database": "PDB", "url": "https://www.rcsb.org/structure/2Z82" }, { "id": "3A79", "database": "PDB", "url": "https://www.rcsb.org/structure/3A79" }, { "id": "3A79", "database": "PDB", "url": "https://www.rcsb.org/structure/3A79" }, { "id": "2Z81|A|147", "database": "", "url": "" }, { "id": "2Z82|A|147", "database": "", "url": "" }, { "id": "3A79|A|147", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Asn414", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLTSLDISR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 414, "start_aa": "Asn", "end_pos": 414, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn414", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3A79&bu=0&command=select+.A:414;+center+selection;+zoom+selection" }, "start_pos": 414, "start_aa": "Asn", "end_pos": 414, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn414", "evidence": [ { "id": "Q9QUN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7#ptm_processing" }, { "id": "17889651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17889651" }, { "id": "19931471", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19931471" }, { "id": "26283364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26283364" }, { "id": "3A79", "database": "PDB", "url": "https://www.rcsb.org/structure/3A79" }, { "id": "3A79", "database": "PDB", "url": "https://www.rcsb.org/structure/3A79" }, { "id": "3A7B", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7B" }, { "id": "3A7B", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7B" }, { "id": "5D3I", "database": "PDB", "url": "https://www.rcsb.org/structure/5D3I" }, { "id": "5D3I", "database": "PDB", "url": "https://www.rcsb.org/structure/5D3I" }, { "id": "3A79|A|414", "database": "", "url": "" }, { "id": "3A7B|A|414", "database": "", "url": "" }, { "id": "5D3I|A|414", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Asn442", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FLNLSSTGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 442, "start_aa": "Asn", "end_pos": 442, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn442", "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" } ] }, { "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": 442, "start_aa": "Asn", "end_pos": 442, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn442", "evidence": [ { "id": "Q9QUN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7#ptm_processing" }, { "id": "17889651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17889651" }, { "id": "19931471", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19931471" }, { "id": "26283364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26283364" } ] } ] }, { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Tyr647", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9QUN7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QUN7" }, { "database": "PubMed", "id": "35362478", "url": "https://glygen.org/publication/PubMed/35362478" } ] } ] }, { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Asp419", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "3", "chr_pos": "83744827", "evidence": [ { "id": "rs3388635397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388635397" } ] } ] }, { "uniprot_canonical_ac": "Q9QUN7-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Pro681", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Abolishes MYD88-binding and response to microbial cell wall components.", "evidence": [ { "database": "UniProtKB", "id": "Q9QUN7", "url": "https://www.uniprot.org/uniprotkb/Q9QUN7" }, { "database": "PubMed", "id": "10548109", "url": "https://glygen.org/publication/PubMed/10548109" } ] } ] } ], "record_id": "Q9QUN7-1" }, { "uniprot_canonical_ac": "Q8BI84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1930, "chemical_mass": 213675.0, "gene_names": "Mia3;9130229H14Rik;A930039G15Rik;B230399H06Rik;Gm1525;Kiaa0268;Mia3;TANGO1;Tango", "protein_name": "Transport and Golgi organization protein 1 homolog", "disease": [], "biological_process": [ { "name": "COPII-coated vesicle cargo loading", "id": "GO:0090110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090110", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "negative regulation of leukocyte cell-cell adhesion", "id": "GO:1903038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903038", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum exit site", "id": "GO:0070973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070973", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "negative regulation of lymphocyte migration", "id": "GO:2000402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000402", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "vesicle cargo loading", "id": "GO:0035459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035459", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" } ], "molecular_function": [ { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Asn1691", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G58303SK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLLSQNGSFGPSPVSGGECSPPLPAEPPGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1691, "start_aa": "Asn", "end_pos": 1691, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1691", "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": "Q8BI84-1", "start_pos": "1752", "end_pos": "1752", "site_lbl": "Ser1752", "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": 1752, "start_aa": "Ser", "end_pos": 1752, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1752", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8BI84", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BI84" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BI84", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1754", "end_pos": "1754", "site_lbl": "Ser1754", "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": 1754, "start_aa": "Ser", "end_pos": 1754, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1754", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8BI84", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BI84" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BI84", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BI84" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "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": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1929", "end_pos": "1929", "site_lbl": "Thr1929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1929, "start_aa": "Thr", "end_pos": 1929, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1929", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "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": 250, "start_aa": "Thr", "end_pos": 250, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr250", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8BI84", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BI84" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BI84", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Asn252", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TGNSSPASVER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "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": 253, "start_aa": "Ser", "end_pos": 253, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser253", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8BI84", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BI84" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BI84", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Asn360", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 360, "start_aa": "Asn", "end_pos": 360, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn360", "evidence": [ { "id": "Q8BI84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BI84#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Thr450", "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": 450, "start_aa": "Thr", "end_pos": 450, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr450", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BI84", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Asn631", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSWQQEQDVAAVVGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2505", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ] }, { "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": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "Q8BI84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BI84#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1458", "end_pos": "1458", "site_lbl": "Ser1458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1693", "end_pos": "1693", "site_lbl": "Ser1693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1705", "end_pos": "1705", "site_lbl": "Ser1705", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1733", "end_pos": "1733", "site_lbl": "Ser1733", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1766", "end_pos": "1766", "site_lbl": "Ser1766", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ser1770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "1915", "end_pos": "1915", "site_lbl": "Ser1915", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8BI84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Ser856", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI84", "url": "https://www.uniprot.org/uniprotkb/Q8BI84" } ] } ] }, { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "1", "chr_pos": "183139630", "evidence": [ { "id": "rs581175179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581175179" } ] } ] } ], "record_id": "Q8BI84-1" }, { "uniprot_canonical_ac": "Q8VHN8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHN8", "url": "https://www.uniprot.org/uniprotkb/Q8VHN8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 23414.0, "gene_names": "Nudt16l1;1110001K21Rik;5330437I08Rik;Nudt16l1;Sdos;Tirr;syndesmos", "protein_name": "Tudor-interacting repair regulator protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VHN8", "url": "https://www.uniprot.org/uniprotkb/Q8VHN8" } ], "pmid": "" } ], "molecular_function": [ { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "Q8VHN8", "url": "https://www.uniprot.org/uniprotkb/Q8VHN8" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VHN8", "url": "https://www.uniprot.org/uniprotkb/Q8VHN8" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of double-strand break repair via nonhomologous end joining", "id": "GO:2001033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001033", "evidence": [ { "database": "UniProtKB", "id": "Q8VHN8", "url": "https://www.uniprot.org/uniprotkb/Q8VHN8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VHN8-1" }, { "uniprot_canonical_ac": "Q9DAG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 180, "chemical_mass": 21041.0, "gene_names": "Spmip9;1700011F03Rik;Spmip9;Tex37;Tsc21", "protein_name": "Protein SPMIP9", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" }, { "name": "axonemal A tubule inner sheath", "id": "GO:0160111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160111", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG4", "url": "https://www.uniprot.org/uniprotkb/Q9DAG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DAG4-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Thr37", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 37, "start_aa": "Thr", "end_pos": 37, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr37", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9DAG4-1" }, { "uniprot_canonical_ac": "Q9JM61-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 851, "chemical_mass": 94696.0, "gene_names": "Thsd1;4833423O18Rik;Thsd1;Tmtsp", "protein_name": "Thrombospondin type-1 domain-containing protein 1", "disease": [ { "disease_id": "DOID:0050580", "name": "hereditary lymphedema", "description": "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.", "url": "https://disease-ontology.org/term/DOID:0050580", "evidence": [ { "id": "0050580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050580" } ], "weight": 0.0 }, { "disease_id": "DOID:0080975", "name": "intracranial berry aneurysm 12", "description": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14.", "url": "https://disease-ontology.org/term/DOID:0080975", "evidence": [ { "id": "0080975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080975" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" } ], "biological_process": [ { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Asn110", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 110, "start_aa": "Asn", "end_pos": 110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Asn135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40574BA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VEWPVFHIDLNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "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" } ] }, { "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": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Asn304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G24748EV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TVFNCTLFDVGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 304, "start_aa": "Asn", "end_pos": 304, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn304", "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" } ] }, { "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": 304, "start_aa": "Asn", "end_pos": 304, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn304", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asn53", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 53, "start_aa": "Asn", "end_pos": 53, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asn69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "Q9JM61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM61#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM61-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JM61", "url": "https://www.uniprot.org/uniprotkb/Q9JM61" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JM61", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JM61" } ] } ] } ], "record_id": "Q9JM61-1" }, { "uniprot_canonical_ac": "P23950-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 36385.0, "gene_names": "Zfp36l1;Berg36;Brf1;D530020L18Rik;ERF1;TIS11b;Tis11b;Zfp36l1;cMG1", "protein_name": "mRNA decay activator protein ZFP36L1", "disease": [], "biological_process": [ { "name": "regulation of B cell differentiation", "id": "GO:0045577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045577", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "proepicardium development", "id": "GO:0003342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003342", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-independent decay", "id": "GO:0031086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031086", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to raffinose", "id": "GO:0097403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097403", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of keratinocyte apoptotic process", "id": "GO:1902172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902172", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "positive regulation of intracellular mRNA localization", "id": "GO:1904582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904582", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "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": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "spongiotrophoblast layer development", "id": "GO:0060712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060712", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "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": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "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": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to salt stress", "id": "GO:0071472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071472", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "negative regulation of erythrocyte differentiation", "id": "GO:0045647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045647", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle phase transition", "id": "GO:1901991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901991", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of keratinocyte proliferation", "id": "GO:0010837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010837", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mesendoderm development", "id": "GO:0048382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048382", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of myoblast differentiation", "id": "GO:0045661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045661", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:0000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000288", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "regulation of mRNA 3'-end processing", "id": "GO:0031440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031440", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA regulatory element binding translation repressor activity", "id": "GO:0000900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000900", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "protein-RNA sequence-specific adaptor activity", "id": "GO:0160134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160134", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23950-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" }, { "database": "iPTMnet", "id": "P23950", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23950" }, { "database": "PubMed", "id": "26180518", "url": "https://glygen.org/publication/PubMed/26180518" } ] } ] }, { "uniprot_canonical_ac": "P23950-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ] } ] }, { "uniprot_canonical_ac": "P23950-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ] } ] }, { "uniprot_canonical_ac": "P23950-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ] } ] }, { "uniprot_canonical_ac": "P23950-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" } ] } ] }, { "uniprot_canonical_ac": "P23950-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23950", "url": "https://www.uniprot.org/uniprotkb/P23950" }, { "database": "iPTMnet", "id": "P23950", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23950" }, { "database": "PubMed", "id": "26180518", "url": "https://glygen.org/publication/PubMed/26180518" } ] } ] } ], "record_id": "P23950-1" }, { "uniprot_canonical_ac": "A2APB8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 745, "chemical_mass": 85894.0, "gene_names": "Tpx2;2610005B21Rik;DIL2;REPP86;Tpx2;p100", "protein_name": "Targeting protein for Xklp2", "disease": [], "molecular_function": [ { "name": "importin-alpha family protein binding", "id": "GO:0061676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061676", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "aster", "id": "GO:0005818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005818", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "microtubule nucleation", "id": "GO:0007020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007020", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "regulation of mitotic spindle organization", "id": "GO:0060236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060236", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Thr369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" }, { "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": "A2APB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Thr72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "A2APB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2APB8" } ] } ] }, { "uniprot_canonical_ac": "A2APB8-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Ser737", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2APB8", "url": "https://www.uniprot.org/uniprotkb/A2APB8" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2APB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2APB8" } ] } ] } ], "record_id": "A2APB8-1" }, { "uniprot_canonical_ac": "Q9QY73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 323, "chemical_mass": 36314.0, "gene_names": "Tmem59;1110001M20Rik;3110046P06Rik;D4Ertd20e;MTDCF1;ORF18;Tdcf1;Tmem59", "protein_name": "Transmembrane protein 59", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "Golgi cis cisterna", "id": "GO:0000137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000137", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "Golgi trans cisterna", "id": "GO:0000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000138", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" } ], "biological_process": [ { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY73-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Asn90", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LFSICQFVDDGLDLNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "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" } ] }, { "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": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "Q9QY73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY73#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY73-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Thr303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY73", "url": "https://www.uniprot.org/uniprotkb/Q9QY73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY73" } ] } ] } ], "record_id": "Q9QY73-1" }, { "uniprot_canonical_ac": "O35235-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35003.0, "gene_names": "Tnfsf11;Ly109l;ODF;OPGL;Opgl;RANKL;Rankl;Tnfsf11;Trance", "protein_name": "Tumor necrosis factor ligand superfamily member 11", "disease": [ { "disease_id": "DOID:0110943", "name": "autosomal recessive osteopetrosis 2", "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.", "url": "https://disease-ontology.org/term/DOID:0110943", "evidence": [ { "id": "0110943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110943" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "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 } ], "biological_process": [ { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of osteoclast development", "id": "GO:2001206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001206", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of fever generation by positive regulation of prostaglandin secretion", "id": "GO:0071812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071812", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "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": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "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": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "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": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "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": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "osteoclast proliferation", "id": "GO:0002158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002158", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of corticotropin-releasing hormone secretion", "id": "GO:0051466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051466", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of homotypic cell-cell adhesion", "id": "GO:0034112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034112", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "tooth eruption", "id": "GO:0044691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044691", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor superfamily binding", "id": "GO:0032813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032813", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "O35235", "url": "https://www.uniprot.org/uniprotkb/O35235" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35235-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "O35235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35235#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35235-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Asn262", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "O35235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35235#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35235-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35235" }, { "database": "PubMed", "id": "28973003", "url": "https://glygen.org/publication/PubMed/28973003" } ] } ] } ], "record_id": "O35235-1" }, { "uniprot_canonical_ac": "Q3UTY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1018, "chemical_mass": 113243.0, "gene_names": "Thsd4;ADAMTSL-6;ADAMTSL6;Adamtsl4;B230114P05Rik;Thsd4", "protein_name": "Thrombospondin type-1 domain-containing protein 4", "disease": [ { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" } ], "biological_process": [ { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" }, { "name": "microfibril assembly", "id": "GO:0160054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160054", "evidence": [ { "database": "UniProtKB", "id": "Q3UTY6", "url": "https://www.uniprot.org/uniprotkb/Q3UTY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UTY6-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Asn441", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INITEMHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 441, "start_aa": "Asn", "end_pos": 441, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn441", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 441, "start_aa": "Asn", "end_pos": 441, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn441", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2766", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2766" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 441, "start_aa": "Asn", "end_pos": 441, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn441", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2766", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2766" } ] } ] }, { "uniprot_canonical_ac": "Q3UTY6-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Asn709", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QVLCRQVYANRSLTVQPYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 709, "start_aa": "Asn", "end_pos": 709, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn709", "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" } ] } ] } ], "record_id": "Q3UTY6-1" }, { "uniprot_canonical_ac": "Q8BKT7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 683, "chemical_mass": 78686.0, "gene_names": "Thoc5;1700060C24Rik;A430085L24Rik;Fmip;Kiaa0983;PK1.3;Sgk2;Thoc5", "protein_name": "THO complex subunit 5 homolog", "disease": [ { "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 } ], "cellular_component": [ { "name": "THO complex", "id": "GO:0000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000347", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "THO complex part of transcription export complex", "id": "GO:0000445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000445", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "transcription export complex", "id": "GO:0000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000346", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "negative regulation of macrophage differentiation", "id": "GO:0045650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045650", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "regulation of mRNA export from nucleus", "id": "GO:0010793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010793", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "primitive hemopoiesis", "id": "GO:0060215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060215", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Tyr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "database": "PubMed", "id": "19015024", "url": "https://glygen.org/publication/PubMed/19015024" }, { "database": "iPTMnet", "id": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "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": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "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": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "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": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "database": "PubMed", "id": "15451025", "url": "https://glygen.org/publication/PubMed/15451025" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "database": "PubMed", "id": "15221008", "url": "https://glygen.org/publication/PubMed/15221008" }, { "database": "iPTMnet", "id": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT7-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT7", "url": "https://www.uniprot.org/uniprotkb/Q8BKT7" }, { "database": "PubMed", "id": "15221008", "url": "https://glygen.org/publication/PubMed/15221008" }, { "database": "iPTMnet", "id": "Q8BKT7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT7" } ] } ] } ], "record_id": "Q8BKT7-1" }, { "uniprot_canonical_ac": "Q8BWT1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 397, "chemical_mass": 41830.0, "gene_names": "Acaa2;0610011L04Rik;Acaa2;D18Ertd240e", "protein_name": "3-ketoacyl-CoA thiolase, mitochondrial", "disease": [], "molecular_function": [ { "name": "acetyl-CoA hydrolase activity", "id": "GO:0003986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003986", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "acetyl-CoA C-acyltransferase activity", "id": "GO:0003988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003988", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "acetyl-CoA C-acetyltransferase activity", "id": "GO:0003985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003985", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "acyltransferase activity, transferring groups other than amino-acyl groups", "id": "GO:0016747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016747", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901029", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902109", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Asn342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G84225JN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALDLDPSKTNVSGGAIALGHPLGGSGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 342, "start_aa": "Asn", "end_pos": 342, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn342", "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": "Q8BWT1-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Thr119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Tyr127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Thr136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BWT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" }, { "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": "Q8BWT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BWT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWT1" } ] } ] }, { "uniprot_canonical_ac": "Q8BWT1-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWT1", "url": "https://www.uniprot.org/uniprotkb/Q8BWT1" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "Q8BWT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWT1" } ] } ] } ], "record_id": "Q8BWT1-1" }, { "uniprot_canonical_ac": "Q9D771-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 350, "chemical_mass": 40178.0, "gene_names": "Pacc1;2310028N02Rik;PAC;Pacc1;Tmem206", "protein_name": "Proton-activated chloride channel", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ], "pmid": "" } ], "molecular_function": [ { "name": "pH-gated chloride channel activity", "id": "GO:0061797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061797", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Asn148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HHYEVIPPLASPGQPGDRNCTTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "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": "Q9D771-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asn155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G58665JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INYTHPFFNHTMQSALIVQGPQEVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "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" } ] }, { "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": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "evidence": [ { "id": "Q9D771", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D771#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asn162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G30740WO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INYTHPFFNHTMQSALIVQGPQEVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "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" } ] }, { "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": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "Q9D771", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D771#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELVQVQGPGVVPGVDNESASSSIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "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": "Q9D771-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Tyr10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9D771", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D771" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9D771", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D771" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D771", "url": "https://www.uniprot.org/uniprotkb/Q9D771" } ] } ] }, { "uniprot_canonical_ac": "Q9D771-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Thr157", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "1", "chr_pos": "191073050", "evidence": [ { "id": "rs3388524581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388524581" } ] } ] } ], "record_id": "Q9D771-1" }, { "uniprot_canonical_ac": "P48787-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 24259.0, "gene_names": "Tnni3;Tn1;Tnni3;cTnI", "protein_name": "Troponin I, cardiac muscle", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "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:0110313", "name": "hypertrophic cardiomyopathy 7", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.", "url": "https://disease-ontology.org/term/DOID:0110313", "evidence": [ { "id": "0110313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110313" } ], "weight": 0.0 }, { "disease_id": "DOID:0110459", "name": "dilated cardiomyopathy 1FF", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.", "url": "https://disease-ontology.org/term/DOID:0110459", "evidence": [ { "id": "0110459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110459" } ], "weight": 0.0 }, { "disease_id": "DOID:0110460", "name": "dilated cardiomyopathy 2A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110460", "evidence": [ { "id": "0110460", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110460" } ], "weight": 0.0 }, { "disease_id": "DOID:0111425", "name": "familial restrictive cardiomyopathy 1", "description": "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.", "url": "https://disease-ontology.org/term/DOID:0111425", "evidence": [ { "id": "0111425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111425" } ], "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of systemic arterial blood pressure by ischemic conditions", "id": "GO:0001980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001980", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by calcium ion signaling", "id": "GO:0010882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010882", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "negative regulation of ATP-dependent activity", "id": "GO:0032780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032780", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" } ], "molecular_function": [ { "name": "troponin C binding", "id": "GO:0030172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030172", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "troponin T binding", "id": "GO:0031014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031014", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "calcium channel inhibitor activity", "id": "GO:0019855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019855", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" } ], "cellular_component": [ { "name": "cardiac Troponin complex", "id": "GO:1990584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990584", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" }, { "name": "troponin complex", "id": "GO:0005861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005861", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48787-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Thr144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P70336-1", "kinase_gene_name": "Rock2", "evidence": [ { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "15774859", "url": "https://glygen.org/publication/PubMed/15774859" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "11934831", "url": "https://glygen.org/publication/PubMed/11934831" }, { "database": "PubMed", "id": "12551921", "url": "https://glygen.org/publication/PubMed/12551921" }, { "database": "PubMed", "id": "12923217", "url": "https://glygen.org/publication/PubMed/12923217" }, { "database": "PubMed", "id": "15201148", "url": "https://glygen.org/publication/PubMed/15201148" }, { "database": "PubMed", "id": "17010989", "url": "https://glygen.org/publication/PubMed/17010989" }, { "database": "PubMed", "id": "19426736", "url": "https://glygen.org/publication/PubMed/19426736" }, { "database": "PubMed", "id": "19850940", "url": "https://glygen.org/publication/PubMed/19850940" }, { "database": "PubMed", "id": "22527640", "url": "https://glygen.org/publication/PubMed/22527640" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P70336-1", "kinase_gene_name": "Rock2", "evidence": [ { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "15774859", "url": "https://glygen.org/publication/PubMed/15774859" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "15507454", "url": "https://glygen.org/publication/PubMed/15507454" }, { "database": "PubMed", "id": "17615373", "url": "https://glygen.org/publication/PubMed/17615373" }, { "database": "PubMed", "id": "19201758", "url": "https://glygen.org/publication/PubMed/19201758" }, { "database": "PubMed", "id": "22086914", "url": "https://glygen.org/publication/PubMed/22086914" }, { "database": "PubMed", "id": "22527640", "url": "https://glygen.org/publication/PubMed/22527640" }, { "database": "PubMed", "id": "22940544", "url": "https://glygen.org/publication/PubMed/22940544" }, { "database": "PubMed", "id": "25961037", "url": "https://glygen.org/publication/PubMed/25961037" }, { "database": "PubMed", "id": "29669813", "url": "https://glygen.org/publication/PubMed/29669813" }, { "database": "PubMed", "id": "17854829", "url": "https://glygen.org/publication/PubMed/17854829" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P70336-1", "kinase_gene_name": "Rock2", "evidence": [ { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "15774859", "url": "https://glygen.org/publication/PubMed/15774859" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "15507454", "url": "https://glygen.org/publication/PubMed/15507454" }, { "database": "PubMed", "id": "19201758", "url": "https://glygen.org/publication/PubMed/19201758" }, { "database": "PubMed", "id": "22086914", "url": "https://glygen.org/publication/PubMed/22086914" }, { "database": "PubMed", "id": "22527640", "url": "https://glygen.org/publication/PubMed/22527640" }, { "database": "PubMed", "id": "22940544", "url": "https://glygen.org/publication/PubMed/22940544" }, { "database": "PubMed", "id": "25961037", "url": "https://glygen.org/publication/PubMed/25961037" }, { "database": "PubMed", "id": "29669813", "url": "https://glygen.org/publication/PubMed/29669813" }, { "database": "PubMed", "id": "17854829", "url": "https://glygen.org/publication/PubMed/17854829" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Tyr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "12003851", "url": "https://glygen.org/publication/PubMed/12003851" }, { "database": "PubMed", "id": "12181153", "url": "https://glygen.org/publication/PubMed/12181153" }, { "database": "PubMed", "id": "12551921", "url": "https://glygen.org/publication/PubMed/12551921" }, { "database": "PubMed", "id": "12923217", "url": "https://glygen.org/publication/PubMed/12923217" }, { "database": "PubMed", "id": "15201148", "url": "https://glygen.org/publication/PubMed/15201148" }, { "database": "PubMed", "id": "16445938", "url": "https://glygen.org/publication/PubMed/16445938" }, { "database": "PubMed", "id": "22527640", "url": "https://glygen.org/publication/PubMed/22527640" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" }, { "database": "iPTMnet", "id": "P48787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48787" }, { "database": "PubMed", "id": "12003851", "url": "https://glygen.org/publication/PubMed/12003851" }, { "database": "PubMed", "id": "12181153", "url": "https://glygen.org/publication/PubMed/12181153" }, { "database": "PubMed", "id": "12551921", "url": "https://glygen.org/publication/PubMed/12551921" }, { "database": "PubMed", "id": "12923217", "url": "https://glygen.org/publication/PubMed/12923217" }, { "database": "PubMed", "id": "15201148", "url": "https://glygen.org/publication/PubMed/15201148" }, { "database": "PubMed", "id": "16445938", "url": "https://glygen.org/publication/PubMed/16445938" }, { "database": "PubMed", "id": "22527640", "url": "https://glygen.org/publication/PubMed/22527640" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Thr52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] }, { "uniprot_canonical_ac": "P48787-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Thr79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48787", "url": "https://www.uniprot.org/uniprotkb/P48787" } ] } ] } ], "record_id": "P48787-1" }, { "uniprot_canonical_ac": "Q80WG7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 729, "chemical_mass": 82791.0, "gene_names": "Trim36;D18Wsu100e;Trim36;haprin", "protein_name": "E3 ubiquitin-protein ligase Trim36", "disease": [ { "disease_id": "DOID:0060668", "name": "anencephaly", "description": "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.", "url": "https://disease-ontology.org/term/DOID:0060668", "evidence": [ { "id": "0060668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060668" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" } ], "biological_process": [ { "name": "acrosome reaction", "id": "GO:0007340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007340", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q80WG7", "url": "https://www.uniprot.org/uniprotkb/Q80WG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80WG7-1" }, { "uniprot_canonical_ac": "Q8BWC0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 731, "chemical_mass": 83595.0, "gene_names": "Tpcn2;D830047E22Rik;Gm35086;Tpc2;Tpcn2", "protein_name": "Two pore channel protein 2", "disease": [ { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "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 } ], "molecular_function": [ { "name": "NAADP-sensitive calcium-release channel activity", "id": "GO:0072345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072345", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "ligand-gated sodium channel activity", "id": "GO:0015280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015280", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity", "id": "GO:0097682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097682", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "voltage-gated channel activity", "id": "GO:0022832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022832", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "endolysosome membrane", "id": "GO:0036020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036020", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" } ], "biological_process": [ { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis of virus by host cell", "id": "GO:0019065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019065", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "intracellular pH reduction", "id": "GO:0051452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051452", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "endocytosis involved in viral entry into host cell", "id": "GO:0075509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075509", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "negative regulation of developmental pigmentation", "id": "GO:0048086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048086", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" }, { "name": "endosome to lysosome transport of low-density lipoprotein particle", "id": "GO:0090117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090117", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWC0-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Asn594", "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": 594, "start_aa": "Asn", "end_pos": 594, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn594", "evidence": [ { "id": "Q8BWC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0#ptm_processing" }, { "id": "19557428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19557428" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of N-glycosylation; when associated with N-601.", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" }, { "database": "PubMed", "id": "19557428", "url": "https://glygen.org/publication/PubMed/19557428" } ] } ] }, { "uniprot_canonical_ac": "Q8BWC0-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Asn601", "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": 601, "start_aa": "Asn", "end_pos": 601, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn601", "evidence": [ { "id": "Q8BWC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0#ptm_processing" }, { "id": "19557428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19557428" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of N-glycosylation; when associated with N-594.", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" }, { "database": "PubMed", "id": "19557428", "url": "https://glygen.org/publication/PubMed/19557428" } ] } ] }, { "uniprot_canonical_ac": "Q8BWC0-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Asn257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Complete loss of selectivity for calcium over monocovalent cations.", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" }, { "database": "PubMed", "id": "20495006", "url": "https://glygen.org/publication/PubMed/20495006" } ] } ] }, { "uniprot_canonical_ac": "Q8BWC0-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Glu643", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Partial loss of selectivity for calcium over monocovalent cations.", "evidence": [ { "database": "UniProtKB", "id": "Q8BWC0", "url": "https://www.uniprot.org/uniprotkb/Q8BWC0" }, { "database": "PubMed", "id": "20495006", "url": "https://glygen.org/publication/PubMed/20495006" } ] } ] } ], "record_id": "Q8BWC0-1" }, { "uniprot_canonical_ac": "Q8K4K4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 372, "chemical_mass": 41281.0, "gene_names": "Trib1;A530090O15Rik;TRB-1;Trb1;Trib1", "protein_name": "Tribbles homolog 1", "disease": [ { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of eosinophil differentiation", "id": "GO:0045645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045645", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "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": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "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": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "negative regulation of neutrophil differentiation", "id": "GO:0045659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045659", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "negative regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031665", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "regulation of MAP kinase activity", "id": "GO:0043405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043405", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-protein transferase regulator activity", "id": "GO:0055106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055106", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase kinase binding", "id": "GO:0031434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031434", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K4K4", "url": "https://www.uniprot.org/uniprotkb/Q8K4K4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K4K4-1" }, { "uniprot_canonical_ac": "Q99MS8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 32626.0, "gene_names": "Tpgs1;Gm16517;Gtrgeo22;PGs1;Tpgs1", "protein_name": "Tubulin polyglutamylase complex subunit 1", "disease": [], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "vesicle localization", "id": "GO:0051648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051648", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "cilium disassembly", "id": "GO:0061523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061523", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" } ], "molecular_function": [ { "name": "tubulin-glutamic acid ligase activity", "id": "GO:0070740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070740", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MS8-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ser279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" }, { "database": "PubMed", "id": "15890843", "url": "https://glygen.org/publication/PubMed/15890843" }, { "database": "iPTMnet", "id": "Q99MS8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MS8" } ] } ] }, { "uniprot_canonical_ac": "Q99MS8-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MS8", "url": "https://www.uniprot.org/uniprotkb/Q99MS8" } ] } ] } ], "record_id": "Q99MS8-1" }, { "uniprot_canonical_ac": "Q922Y2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 47238.0, "gene_names": "Trim59;2310035M22Rik;2700022F13Rik;Mrf1;TSBF1;Trim59", "protein_name": "Tripartite motif-containing protein 59", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "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": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q922Y2", "url": "https://www.uniprot.org/uniprotkb/Q922Y2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q922Y2-1" }, { "uniprot_canonical_ac": "Q9R1R2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 744, "chemical_mass": 80774.0, "gene_names": "Trim3;BERP1;HAC1;Hac1;Rnf22;Trim3", "protein_name": "Tripartite motif-containing protein 3", "disease": [ { "disease_id": "DOID:0110274", "name": "autosomal recessive limb-girdle muscular dystrophy", "description": "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.", "url": "https://disease-ontology.org/term/DOID:0110274", "evidence": [ { "id": "0110274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110274" } ], "weight": 0.0 }, { "disease_id": "DOID:0110282", "name": "autosomal recessive limb-girdle muscular dystrophy type 2H", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.", "url": "https://disease-ontology.org/term/DOID:0110282", "evidence": [ { "id": "0110282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110282" } ], "weight": 0.0 }, { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of toll-like receptor 3 signaling pathway", "id": "GO:0034141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034141", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "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": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "regulation protein catabolic process at postsynapse", "id": "GO:0140252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140252", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1R2-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9R1R2-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1R2", "url": "https://www.uniprot.org/uniprotkb/Q9R1R2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q9R1R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1R2" } ] } ] } ], "record_id": "Q9R1R2-1" }, { "uniprot_canonical_ac": "Q6ZWY8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 44, "chemical_mass": 5026.0, "gene_names": "Tmsb10;Ptmb10;Tb10;Tmsb10", "protein_name": "Thymosin beta-10", "disease": [], "molecular_function": [ { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZWY8-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "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": 12, "start_aa": "Ser", "end_pos": 12, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser12", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6ZWY8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZWY8" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ] } ] }, { "uniprot_canonical_ac": "Q6ZWY8-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZWY8" } ] } ] }, { "uniprot_canonical_ac": "Q6ZWY8-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ] } ] }, { "uniprot_canonical_ac": "Q6ZWY8-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ] } ] }, { "uniprot_canonical_ac": "Q6ZWY8-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWY8", "url": "https://www.uniprot.org/uniprotkb/Q6ZWY8" } ] } ] } ], "record_id": "Q6ZWY8-1" }, { "uniprot_canonical_ac": "Q3UE37-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 356, "chemical_mass": 38368.0, "gene_names": "Ube2z;C030047H17Rik;D11Moh35;Ube2z", "protein_name": "Ubiquitin-conjugating enzyme E2 Z", "disease": [], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UE37-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ser339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UE37", "url": "https://www.uniprot.org/uniprotkb/Q3UE37" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UE37", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UE37" } ] } ] } ], "record_id": "Q3UE37-1" }, { "uniprot_canonical_ac": "Q5U5Q9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 727, "chemical_mass": 81478.0, "gene_names": "Uimc1;9430016E08Rik;D330018D10Rik;D630032M02Rik;RIP110;Rap80;Rip110;Rxrip110;Uimc1", "protein_name": "BRCA1-A complex subunit RAP80", "disease": [], "molecular_function": [ { "name": "ubiquitin-modified histone reader activity", "id": "GO:0061649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061649", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "K63-linked polyubiquitin modification-dependent protein binding", "id": "GO:0070530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070530", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "BRCA1-A complex", "id": "GO:0070531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070531", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "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": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "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": 693, "start_aa": "Ser", "end_pos": 693, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser693", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q5U5Q9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5U5Q9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "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": 698, "start_aa": "Ser", "end_pos": 698, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser698", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q5U5Q9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5U5Q9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q5U5Q9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U5Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U5Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ser474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Thr51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U5Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U5Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U5Q9" } ] } ] }, { "uniprot_canonical_ac": "Q5U5Q9-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U5Q9", "url": "https://www.uniprot.org/uniprotkb/Q5U5Q9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U5Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U5Q9" } ] } ] } ], "record_id": "Q5U5Q9-1" }, { "uniprot_canonical_ac": "Q80XC3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 819, "chemical_mass": 93574.0, "gene_names": "Usp6nl;Kiaa0019;RNTRE;TRE2NL;Usp6nl;mKIAA0019", "protein_name": "USP6 N-terminal-like protein", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "virion assembly", "id": "GO:0019068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019068", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "plasma membrane to endosome transport", "id": "GO:0048227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048227", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" }, { "name": "retrograde transport, plasma membrane to Golgi", "id": "GO:0035526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035526", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Ser398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" }, { "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": "Q80XC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Ser574", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Ser644", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Ser648", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ser669", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ser704", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] }, { "uniprot_canonical_ac": "Q80XC3-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Tyr717", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XC3", "url": "https://www.uniprot.org/uniprotkb/Q80XC3" } ] } ] } ], "record_id": "Q80XC3-1" }, { "uniprot_canonical_ac": "Q91Z49-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35887.0, "gene_names": "Fyttd1;2010005M05Rik;3830411L18Rik;3830421F13Rik;4933423A17Rik;Fyttd1;Uif", "protein_name": "UAP56-interacting factor", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Thr14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Thr", "end_pos": 14, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr14", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91Z49", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91Z49" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Asn171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNIPANFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 171, "start_aa": "Asn", "end_pos": 171, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn171", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "16", "chr_pos": "32718762", "evidence": [ { "id": "rs3389428931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389428931" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Asn303", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77669RF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ANLTFSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 303, "start_aa": "Asn", "end_pos": 303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn303", "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": "Q91Z49-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 315, "start_aa": "Thr", "end_pos": 315, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr315", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Ser117", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" }, { "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": "Q91Z49", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91Z49" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z49", "url": "https://www.uniprot.org/uniprotkb/Q91Z49" } ] } ] }, { "uniprot_canonical_ac": "Q91Z49-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Thr305", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "16", "chr_pos": "32725959", "evidence": [ { "id": "rs3389402145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389402145" } ] } ] } ], "record_id": "Q91Z49-1" }, { "uniprot_canonical_ac": "Q9QY01-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1037, "chemical_mass": 112877.0, "gene_names": "Ulk2;A830085I22Rik;Kiaa0623;Ulk2;Unc51.2;mKIAA0623", "protein_name": "Serine/threonine-protein kinase ULK2", "disease": [], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "collateral sprouting", "id": "GO:0048668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048668", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "negative regulation of collateral sprouting", "id": "GO:0048671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048671", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "somatic sensory system development", "id": "GO:0160038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160038", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Asn229", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NRSLMPSIPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 229, "start_aa": "Asn", "end_pos": 229, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn229", "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": "Q9QY01-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "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": 419, "start_aa": "Ser", "end_pos": 419, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser419", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QY01", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QY01" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Thr420", "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": 420, "start_aa": "Thr", "end_pos": 420, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr420", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9QY01", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Thr514", "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": 514, "start_aa": "Thr", "end_pos": 514, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr514", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9QY01", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Thr613", "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": 613, "start_aa": "Thr", "end_pos": 613, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr613", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QY01", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QY01" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QY01", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QY01" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Thr727", "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": 727, "start_aa": "Thr", "end_pos": 727, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr727", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QY01", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QY01" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QY01", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY01", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Ser772", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY01", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Ser781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY01", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY01" } ] } ] }, { "uniprot_canonical_ac": "Q9QY01-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Lys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Decreased kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9QY01", "url": "https://www.uniprot.org/uniprotkb/Q9QY01" }, { "database": "PubMed", "id": "18443221", "url": "https://glygen.org/publication/PubMed/18443221" } ] } ] } ], "record_id": "Q9QY01-1" }, { "uniprot_canonical_ac": "Q9WUP7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 329, "chemical_mass": 37617.0, "gene_names": "Uchl5;5830413B11Rik;Uch37;Uchl5", "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L5", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of chromosome organization", "id": "GO:0033044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033044", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "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": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of AMPA receptor activity", "id": "GO:2000311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000311", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance in response to DNA damage", "id": "GO:1904507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904507", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic proteasome complex", "id": "GO:0031597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031597", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "proteasome binding", "id": "GO:0070628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070628", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q9WUP7", "url": "https://www.uniprot.org/uniprotkb/Q9WUP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WUP7-1" }, { "uniprot_canonical_ac": "B1AY13-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2617, "chemical_mass": 294001.0, "gene_names": "Usp24;2700066K03Rik;2810030C21Rik;B130021E18;Usp24", "protein_name": "Ubiquitin carboxyl-terminal hydrolase 24", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "1036", "end_pos": "1036", "site_lbl": "Thr1036", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1036, "start_aa": "Thr", "end_pos": 1036, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1036", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2580", "end_pos": "2580", "site_lbl": "Asn2580", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G54010QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EQSGSSNGSESSPANENGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2580, "start_aa": "Asn", "end_pos": 2580, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2580", "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": "B1AY13-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "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": 3, "start_aa": "Ser", "end_pos": 3, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser3", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "B1AY13", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Thr891", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 891, "start_aa": "Thr", "end_pos": 891, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr891", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "1138", "end_pos": "1138", "site_lbl": "Ser1138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "1282", "end_pos": "1282", "site_lbl": "Ser1282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "1940", "end_pos": "1940", "site_lbl": "Ser1940", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Ser2044", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2074", "end_pos": "2074", "site_lbl": "Ser2074", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2558", "end_pos": "2558", "site_lbl": "Ser2558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2562", "end_pos": "2562", "site_lbl": "Thr2562", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "2601", "end_pos": "2601", "site_lbl": "Ser2601", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" } ] } ] }, { "uniprot_canonical_ac": "B1AY13-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Tyr939", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AY13", "url": "https://www.uniprot.org/uniprotkb/B1AY13" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "B1AY13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AY13" } ] } ] } ], "record_id": "B1AY13-1" }, { "uniprot_canonical_ac": "Q8VE47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 44790.0, "gene_names": "Uba5;5730525G14Rik;Uba5;Ube1dc1", "protein_name": "Ubiquitin-like modifier-activating enzyme 5", "disease": [ { "disease_id": "DOID:0050709", "name": "early infantile epileptic encephalopathy", "description": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.", "url": "https://disease-ontology.org/term/DOID:0050709", "evidence": [ { "id": "0050709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050709" } ], "weight": 0.0 }, { "disease_id": "DOID:0080424", "name": "developmental and epileptic encephalopathy 44", "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.", "url": "https://disease-ontology.org/term/DOID:0080424", "evidence": [ { "id": "0080424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080424" } ], "weight": 0.0 }, { "disease_id": "DOID:0111615", "name": "autosomal recessive spinocerebellar ataxia 24", "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1.", "url": "https://disease-ontology.org/term/DOID:0111615", "evidence": [ { "id": "0111615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111615" } ], "weight": 0.0 } ], "biological_process": [ { "name": "megakaryocyte differentiation", "id": "GO:0030219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030219", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "protein ufmylation", "id": "GO:0071569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071569", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "protein K69-linked ufmylation", "id": "GO:1990592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990592", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033146", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "regulation of type II interferon production", "id": "GO:0032649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032649", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" } ], "molecular_function": [ { "name": "UFM1 activating enzyme activity", "id": "GO:0071566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071566", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "ubiquitin-like modifier activating enzyme activity", "id": "GO:0008641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008641", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VE47-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" } ] } ] }, { "uniprot_canonical_ac": "Q8VE47-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Ser392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VE47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VE47" } ] } ] }, { "uniprot_canonical_ac": "Q8VE47-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Cys248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolished ability to catalyze the first step in ufmylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" }, { "database": "PubMed", "id": "21304510", "url": "https://glygen.org/publication/PubMed/21304510" }, { "database": "PubMed", "id": "33372156", "url": "https://glygen.org/publication/PubMed/33372156" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolished ability to catalyze the first step in ufmylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8VE47", "url": "https://www.uniprot.org/uniprotkb/Q8VE47" }, { "database": "PubMed", "id": "21304510", "url": "https://glygen.org/publication/PubMed/21304510" }, { "database": "PubMed", "id": "33372156", "url": "https://glygen.org/publication/PubMed/33372156" } ] } ] } ], "record_id": "Q8VE47-1" }, { "uniprot_canonical_ac": "O08747-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 931, "chemical_mass": 103063.0, "gene_names": "Unc5c;B130051O18Rik;Rcm;Unc5c;Unc5h3;rcm", "protein_name": "Netrin receptor UNC5C", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "netrin receptor activity", "id": "GO:0005042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005042", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "netrin receptor activity involved in chemorepulsion", "id": "GO:0005043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005043", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "netrin-activated signaling pathway", "id": "GO:0038007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038007", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "anterior/posterior axon guidance", "id": "GO:0033564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033564", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "chemorepulsion of axon", "id": "GO:0061643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061643", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" }, { "name": "dorsal root ganglion development", "id": "GO:1990791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990791", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08747-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Asn236", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 236, "start_aa": "Asn", "end_pos": 236, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn236", "evidence": [ { "id": "O08747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08747#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08747-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asn361", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "O08747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08747#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08747-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08747", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08747" } ] } ] }, { "uniprot_canonical_ac": "O08747-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Tyr568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" }, { "database": "PubMed", "id": "11533026", "url": "https://glygen.org/publication/PubMed/11533026" }, { "database": "iPTMnet", "id": "O08747", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08747" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with PTPN11, leading to an increased level of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O08747", "url": "https://www.uniprot.org/uniprotkb/O08747" }, { "database": "PubMed", "id": "11533026", "url": "https://glygen.org/publication/PubMed/11533026" } ] } ] } ], "record_id": "O08747-1" }, { "uniprot_canonical_ac": "P81615-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 122, "chemical_mass": 13558.0, "gene_names": "Ucn;Mpv17;Ucn1;Ucn", "protein_name": "Urocortin", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "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: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 } ], "biological_process": [ { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of feeding behavior", "id": "GO:2000252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000252", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "activation of protein kinase A activity", "id": "GO:0034199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034199", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "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": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "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": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of corticotropin secretion", "id": "GO:0051461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051461", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone deacetylase inhibitor activity", "id": "GO:0046811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046811", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 1 binding", "id": "GO:0051430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051430", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 2 binding", "id": "GO:0051431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051431", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" }, { "name": "varicosity", "id": "GO:0043196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043196", "evidence": [ { "database": "UniProtKB", "id": "P81615", "url": "https://www.uniprot.org/uniprotkb/P81615" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P81615-1" }, { "uniprot_canonical_ac": "Q8CCJ3-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 793, "chemical_mass": 89520.0, "gene_names": "Ufl1;1810074P20Rik;Kiaa0776;Maxer;Rcad;Ufl1;mKIAA0776", "protein_name": "E3 UFM1-protein ligase 1", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated immune response to tumor cell", "id": "GO:0002842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002842", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "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": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "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": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032434", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of proteolysis involved in protein catabolic process", "id": "GO:1903052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903052", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "protein ufmylation", "id": "GO:0071569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071569", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "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": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "DNA double-strand break processing", "id": "GO:0000729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000729", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "negative regulation of IRE1-mediated unfolded protein response", "id": "GO:1903895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903895", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "protein K69-linked ufmylation", "id": "GO:1990592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990592", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033146", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "negative regulation of signal transduction by p53 class mediator", "id": "GO:1901797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901797", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "positive regulation of reticulophagy", "id": "GO:0140501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140501", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "transferase complex", "id": "GO:1990234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990234", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "UFM1 transferase activity", "id": "GO:0071568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071568", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" }, { "name": "UFM1 ligase activity", "id": "GO:0061666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061666", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "564", "end_pos": "564", "site_lbl": "Thr564", "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": 564, "start_aa": "Thr", "end_pos": 564, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr564", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q8CCJ3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CCJ3" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "58", "end_pos": "58", "site_lbl": "Thr58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 58, "start_aa": "Thr", "end_pos": 58, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr58", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "Q8CCJ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ3" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "535", "end_pos": "535", "site_lbl": "Thr535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "752", "end_pos": "752", "site_lbl": "Ser752", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8CCJ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ3" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ3-3", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ3", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8CCJ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ3" } ] } ] } ], "record_id": "Q8CCJ3-3" }, { "uniprot_canonical_ac": "Q8R5H1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 981, "chemical_mass": 112325.0, "gene_names": "Usp15;4921514G19Rik;E430033I05Rik;Gcap18;Kiaa0529;Usp15", "protein_name": "Ubiquitin carboxyl-terminal hydrolase 15", "disease": [ { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of RNA metabolic process", "id": "GO:0051252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051252", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "negative regulation of antifungal innate immune response", "id": "GO:1905035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905035", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "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": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "positive regulation of RIG-I signaling pathway", "id": "GO:1900246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900246", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "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": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "monoubiquitinated protein deubiquitination", "id": "GO:0035520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035520", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "protein K27-linked deubiquitination", "id": "GO:1990167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990167", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator", "id": "GO:1902238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902238", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "transcription elongation-coupled chromatin remodeling", "id": "GO:0140673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140673", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-modified histone reader activity", "id": "GO:0061649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061649", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor binding", "id": "GO:0005160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005160", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "K48-linked deubiquitinase activity", "id": "GO:1990380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990380", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "deubiquitinase activity", "id": "GO:0101005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101005", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asn234", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPGASNFSTLPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "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": "Q8R5H1-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Thr358", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 358, "start_aa": "Thr", "end_pos": 358, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr358", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" }, { "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": "Q8R5H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Thr602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8R5H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5H1" }, { "database": "PubMed", "id": "30874560", "url": "https://glygen.org/publication/PubMed/30874560" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "965", "end_pos": "965", "site_lbl": "Ser965", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5H1", "url": "https://www.uniprot.org/uniprotkb/Q8R5H1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5H1" } ] } ] }, { "uniprot_canonical_ac": "Q8R5H1-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ala559", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "10", "chr_pos": "122963752", "evidence": [ { "id": "rs251191698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251191698" } ] } ] } ], "record_id": "Q8R5H1-1" }, { "uniprot_canonical_ac": "Q62394-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 38322.0, "gene_names": "Zfp185;Znf185;P1;Zfp185;Znf185", "protein_name": "Zinc finger protein 185", "disease": [], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62394-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" } ] } ] }, { "uniprot_canonical_ac": "Q62394-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62394", "url": "https://www.uniprot.org/uniprotkb/Q62394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62394" } ] } ] } ], "record_id": "Q62394-1" }, { "uniprot_canonical_ac": "Q8R1N0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 363, "chemical_mass": 40658.0, "gene_names": "Znf830;2410003C20Rik;Ccdc16;Omcg1;Zfp830;Znf830", "protein_name": "Zinc finger protein 830", "disease": [], "biological_process": [ { "name": "mitotic DNA damage checkpoint signaling", "id": "GO:0044773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044773", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "preantral ovarian follicle growth", "id": "GO:0001546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001546", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "nuclear DNA replication", "id": "GO:0033260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033260", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033314", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R1N0-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" } ] } ] }, { "uniprot_canonical_ac": "Q8R1N0-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R1N0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R1N0" } ] } ] }, { "uniprot_canonical_ac": "Q8R1N0-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R1N0", "url": "https://www.uniprot.org/uniprotkb/Q8R1N0" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "21191184", "url": "https://glygen.org/publication/PubMed/21191184" }, { "database": "iPTMnet", "id": "Q8R1N0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R1N0" } ] } ] } ], "record_id": "Q8R1N0-1" }, { "uniprot_canonical_ac": "Q9ERU3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 237, "chemical_mass": 27294.0, "gene_names": "Znf22;2900028O21Rik;KOX15;Krox-25-2;Krox-26;Krox25;Krox26;Zfp422;Znf22", "protein_name": "Zinc finger protein 22", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU3", "url": "https://www.uniprot.org/uniprotkb/Q9ERU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERU3-1" }, { "uniprot_canonical_ac": "Q7TNM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 759, "chemical_mass": 83432.0, "gene_names": "Trim46;TRIFIC;Trific;Trim46", "protein_name": "Tripartite motif-containing protein 46", "disease": [], "biological_process": [ { "name": "protein localization to axon", "id": "GO:0099612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099612", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "anterograde synaptic vesicle transport", "id": "GO:0048490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048490", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "positive regulation of anterograde dense core granule transport", "id": "GO:1901953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901953", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "main axon", "id": "GO:0044304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044304", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "proximal neuron projection", "id": "GO:1990769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990769", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TNM2-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Thr478", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 478, "start_aa": "Thr", "end_pos": 478, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr478", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TNM2-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Thr680", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 680, "start_aa": "Thr", "end_pos": 680, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr680", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TNM2-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Thr83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Thr", "end_pos": 83, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr83", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "3", "chr_pos": "89151535", "evidence": [ { "id": "rs3541556373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541556373" } ] } ] }, { "uniprot_canonical_ac": "Q7TNM2-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TNM2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TNM2" } ] } ] }, { "uniprot_canonical_ac": "Q7TNM2-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Ser627", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TNM2", "url": "https://www.uniprot.org/uniprotkb/Q7TNM2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TNM2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TNM2" } ] } ] } ], "record_id": "Q7TNM2-1" }, { "uniprot_canonical_ac": "Q8VCZ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 278, "chemical_mass": 32388.0, "gene_names": "Tmem45b;Tmem45b", "protein_name": "Transmembrane protein 45B", "disease": [], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCZ2-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" } ] } ] }, { "uniprot_canonical_ac": "Q8VCZ2-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ2", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VCZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCZ2" } ] } ] } ], "record_id": "Q8VCZ2-1" }, { "uniprot_canonical_ac": "B1AZA5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 876, "chemical_mass": 97357.0, "gene_names": "Tmem245;A630051L19Rik;D730040F13Rik;Tmem245", "protein_name": "Transmembrane protein 245", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "B1AZA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B1AZA5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Asn497", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 497, "start_aa": "Asn", "end_pos": 497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn497", "evidence": [ { "id": "B1AZA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B1AZA5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Asn548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNNTAVIEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "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" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2794" } ] }, { "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": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "B1AZA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B1AZA5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "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": 550, "start_aa": "Thr", "end_pos": 550, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr550", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "B1AZA5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asn572", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTHSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 572, "start_aa": "Asn", "end_pos": 572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn572", "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" } ] }, { "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": 572, "start_aa": "Asn", "end_pos": 572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn572", "evidence": [ { "id": "B1AZA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B1AZA5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AZA5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "B1AZA5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ser327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Thr331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] }, { "uniprot_canonical_ac": "B1AZA5-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Ser874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AZA5", "url": "https://www.uniprot.org/uniprotkb/B1AZA5" } ] } ] } ], "record_id": "B1AZA5-1" }, { "uniprot_canonical_ac": "Q3TX08-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 663, "chemical_mass": 72373.0, "gene_names": "Trmt1;6720406L13Rik;6720477L24;D8Ertd812e;Trmt1", "protein_name": "tRNA (guanine(26)-N(2))-dimethyltransferase", "disease": [ { "disease_id": "DOID:0081229", "name": "autosomal recessive intellectual developmental disorder 68", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0081229", "evidence": [ { "id": "0081229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081229" } ], "weight": 0.0 } ], "biological_process": [ { "name": "tRNA N2-guanine methylation", "id": "GO:0002940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002940", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "tRNA (guanine(26)-N2)-dimethyltransferase activity", "id": "GO:0160104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160104", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" }, { "name": "tRNA (guanine) methyltransferase activity", "id": "GO:0016423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016423", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TX08-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PPSPPAMENGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "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": "Q3TX08-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "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": 487, "start_aa": "Thr", "end_pos": 487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr487", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q3TX08", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3TX08" } ] } ] }, { "uniprot_canonical_ac": "Q3TX08-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" }, { "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": "Q3TX08", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TX08" } ] } ] }, { "uniprot_canonical_ac": "Q3TX08-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Ser516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ] } ] }, { "uniprot_canonical_ac": "Q3TX08-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Ser624", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TX08", "url": "https://www.uniprot.org/uniprotkb/Q3TX08" } ] } ] } ], "record_id": "Q3TX08-1" }, { "uniprot_canonical_ac": "Q8K284-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2101, "chemical_mass": 237476.0, "gene_names": "Gtf3c1;Gtf3c1", "protein_name": "General transcription factor 3C polypeptide 1", "disease": [], "cellular_component": [ { "name": "transcription factor TFIIIC complex", "id": "GO:0000127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000127", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" } ], "biological_process": [ { "name": "5S class rRNA transcription by RNA polymerase III", "id": "GO:0042791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042791", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase III promoter", "id": "GO:0006384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006384", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" }, { "name": "RNA polymerase III general transcription initiation factor activity", "id": "GO:0000995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000995", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Thr1196", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1196, "start_aa": "Thr", "end_pos": 1196, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1196", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K284", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K284" } ] } ] }, { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Asn665", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSEEGLLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "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": "Q8K284-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ser1063", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ] } ] }, { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "1854", "end_pos": "1854", "site_lbl": "Ser1854", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ] } ] }, { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "1890", "end_pos": "1890", "site_lbl": "Ser1890", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" }, { "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": "Q8K284", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K284" } ] } ] }, { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Ser667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K284", "url": "https://www.uniprot.org/uniprotkb/Q8K284" } ] } ] }, { "uniprot_canonical_ac": "Q8K284-1", "start_pos": "1304", "end_pos": "1304", "site_lbl": "Asp1304", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "7", "chr_pos": "125256731", "evidence": [ { "id": "rs3388929734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929734" } ] } ] } ], "record_id": "Q8K284-1" }, { "uniprot_canonical_ac": "Q9DBY1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 612, "chemical_mass": 67296.0, "gene_names": "Syvn1;1200010C09Rik;D530017H19Rik;Hrd1;Kiaa1810;Syvn1", "protein_name": "E3 ubiquitin-protein ligase synoviolin", "disease": [ { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 } ], "biological_process": [ { "name": "immature B cell differentiation", "id": "GO:0002327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002327", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "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": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "retrograde protein transport, ER to cytosol", "id": "GO:0030970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030970", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "negative regulation of T-helper 1 type immune response", "id": "GO:0002826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002826", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "Derlin-1 retrotranslocation complex", "id": "GO:0036513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036513", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "endoplasmic reticulum quality control compartment", "id": "GO:0044322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044322", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "Hrd1p ubiquitin ligase complex", "id": "GO:0000836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000836", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "Hrd1p ubiquitin ligase ERAD-L complex", "id": "GO:0000839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000839", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBY1-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Thr280", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 280, "start_aa": "Thr", "end_pos": 280, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr280", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DBY1-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Thr560", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 560, "start_aa": "Thr", "end_pos": 560, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr560", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DBY1-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Ser608", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY1", "url": "https://www.uniprot.org/uniprotkb/Q9DBY1" } ] } ] } ], "record_id": "Q9DBY1-1" }, { "uniprot_canonical_ac": "Q91V09-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 485, "chemical_mass": 53664.0, "gene_names": "Wdr13;1700060B08Rik;5730411P10Rik;DXHXS7467e;Wdr13;mMg21", "protein_name": "WD repeat-containing protein 13", "disease": [], "biological_process": [ { "name": "negative regulation of type B pancreatic cell proliferation", "id": "GO:1904691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904691", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" } ], "molecular_function": [ { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91V09-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Thr139", "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": 139, "start_aa": "Thr", "end_pos": 139, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr139", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q91V09", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91V09" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q91V09-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "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": 140, "start_aa": "Ser", "end_pos": 140, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser140", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q91V09", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91V09" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q91V09", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q91V09" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q91V09-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ] } ] }, { "uniprot_canonical_ac": "Q91V09-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ] } ] }, { "uniprot_canonical_ac": "Q91V09-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V09", "url": "https://www.uniprot.org/uniprotkb/Q91V09" } ] } ] } ], "record_id": "Q91V09-1" }, { "uniprot_canonical_ac": "O35598-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 749, "chemical_mass": 83968.0, "gene_names": "Adam10;1700031C13Rik;Adam10;Kuz;MADM;Madm;kuzbanian;kuz", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060258", "name": "reticulate acropigmentation of Kitamura", "description": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.", "url": "https://disease-ontology.org/term/DOID:0060258", "evidence": [ { "id": "0060258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060258" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0110050", "name": "Alzheimer's disease 18", "description": "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0110050", "evidence": [ { "id": "0110050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110050" } ], "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:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "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 }, { "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: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "tetraspanin-enriched microdomain", "id": "GO:0097197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097197", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "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": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "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": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "constitutive protein ectodomain proteolysis", "id": "GO:0051089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051089", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "amyloid precursor protein catabolic process", "id": "GO:0042987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042987", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "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": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "amyloid-beta formation", "id": "GO:0034205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034205", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "regulation of vasculature development", "id": "GO:1901342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901342", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "epidermal growth factor receptor ligand maturation", "id": "GO:0038004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038004", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "signaling receptor ligand precursor processing", "id": "GO:0140448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140448", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "protein catabolic process at postsynapse", "id": "GO:0140249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140249", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "metallodipeptidase activity", "id": "GO:0070573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070573", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" }, { "name": "metalloendopeptidase activity involved in amyloid precursor protein catabolic process", "id": "GO:1902945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902945", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35598-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Asn268", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 268, "start_aa": "Asn", "end_pos": 268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn268", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISFMVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 268, "start_aa": "Asn", "end_pos": 268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn268", "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" } ] }, { "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": 268, "start_aa": "Asn", "end_pos": 268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn268", "evidence": [ { "id": "O35598", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35598#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asn279", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INTTSDEKDPTNPFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "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" } ] }, { "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": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "O35598", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35598#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Asn440", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 440, "start_aa": "Asn", "end_pos": 440, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn440", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISQVLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 440, "start_aa": "Asn", "end_pos": 440, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn440", "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" } ] }, { "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": 440, "start_aa": "Asn", "end_pos": 440, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn440", "evidence": [ { "id": "O35598", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35598#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Asn552", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 552, "start_aa": "Asn", "end_pos": 552, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2257", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ] }, { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PNFTDCNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 552, "start_aa": "Asn", "end_pos": 552, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "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" } ] }, { "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": 552, "start_aa": "Asn", "end_pos": 552, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "evidence": [ { "id": "O35598", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35598#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Thr720", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35598" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Glu385", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" }, { "database": "PubMed", "id": "29325091", "url": "https://glygen.org/publication/PubMed/29325091" } ] } ] }, { "uniprot_canonical_ac": "O35598-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Gln736", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "No loss of binding to AP2A1 and AP2A2.", "evidence": [ { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprotkb/O35598" }, { "database": "PubMed", "id": "23676497", "url": "https://glygen.org/publication/PubMed/23676497" } ] } ] } ], "record_id": "O35598-1" }, { "uniprot_canonical_ac": "Q8C006-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 501, "chemical_mass": 57345.0, "gene_names": "Trim35;0710005M05Rik;A430106H13Rik;HLS5;Hls5;Kiaa1098;Mair;NC8;Trim35;mKIAA1098", "protein_name": "E3 ubiquitin-protein ligase TRIM35", "disease": [], "biological_process": [ { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C006-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C006", "url": "https://www.uniprot.org/uniprotkb/Q8C006" } ] } ] } ], "record_id": "Q8C006-1" }, { "uniprot_canonical_ac": "Q8C0V1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 768, "chemical_mass": 86835.0, "gene_names": "Terb1;4930532D21Rik;Ccdc79;Terb1", "protein_name": "Telomere repeats-binding bouquet formation protein 1", "disease": [ { "disease_id": "DOID:0112355", "name": "spermatogenic failure 60", "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1.", "url": "https://disease-ontology.org/term/DOID:0112355", "evidence": [ { "id": "0112355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112355" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" } ], "biological_process": [ { "name": "meiotic attachment of telomere to nuclear envelope", "id": "GO:0070197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070197", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" }, { "name": "double-strand break repair involved in meiotic recombination", "id": "GO:1990918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990918", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" }, { "name": "meiotic telomere clustering", "id": "GO:0045141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045141", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0V1-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Thr648", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" }, { "database": "PubMed", "id": "26548954", "url": "https://glygen.org/publication/PubMed/26548954" }, { "database": "PubMed", "id": "24413433", "url": "https://glygen.org/publication/PubMed/24413433" }, { "database": "iPTMnet", "id": "Q8C0V1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0V1" }, { "database": "PubMed", "id": "29083414", "url": "https://glygen.org/publication/PubMed/29083414" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Telomere-attachment defects.", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" }, { "database": "PubMed", "id": "26548954", "url": "https://glygen.org/publication/PubMed/26548954" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Mimics phosphorylation state; impairs interaction with TERF1.", "evidence": [ { "database": "UniProtKB", "id": "Q8C0V1", "url": "https://www.uniprot.org/uniprotkb/Q8C0V1" }, { "database": "PubMed", "id": "24413433", "url": "https://glygen.org/publication/PubMed/24413433" } ] } ] } ], "record_id": "Q8C0V1-1" }, { "uniprot_canonical_ac": "P51830-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1353, "chemical_mass": 150954.0, "gene_names": "Adcy9;AC9;ACtp10;Adcy9;D16Wsu65e;mKIAA0520", "protein_name": "Adenylate cyclase type 9", "disease": [ { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51830-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "P51830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51830#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Thr814", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 814, "start_aa": "Thr", "end_pos": 814, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr814", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Asn955", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 955, "start_aa": "Asn", "end_pos": 955, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn955", "evidence": [ { "id": "P51830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51830#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "964", "end_pos": "964", "site_lbl": "Asn964", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPCNSSVLQDGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 964, "start_aa": "Asn", "end_pos": 964, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn964", "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" } ] }, { "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": 964, "start_aa": "Asn", "end_pos": 964, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn964", "evidence": [ { "id": "P51830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51830#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Ser1257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "1259", "end_pos": "1259", "site_lbl": "Ser1259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "1295", "end_pos": "1295", "site_lbl": "Ser1295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Ser1307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "1332", "end_pos": "1332", "site_lbl": "Ser1332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "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": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Ser610", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Ser613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "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": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Ser688", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Ser691", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] }, { "uniprot_canonical_ac": "P51830-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51830", "url": "https://www.uniprot.org/uniprotkb/P51830" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51830" } ] } ] } ], "record_id": "P51830-1" }, { "uniprot_canonical_ac": "O88573-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1216, "chemical_mass": 131558.0, "gene_names": "Aff1;Mllt2h;Mllt2", "protein_name": "AF4/FMR2 family member 1", "disease": [ { "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 } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "super elongation complex", "id": "GO:0032783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032783", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "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": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "DNA-templated transcription elongation", "id": "GO:0006354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006354", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88573-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Thr653", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 653, "start_aa": "Thr", "end_pos": 653, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr653", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Thr667", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 667, "start_aa": "Thr", "end_pos": 667, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr667", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88573" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88573" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88573" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88573" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Ser760", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88573", "url": "https://www.uniprot.org/uniprotkb/O88573" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88573" } ] } ] }, { "uniprot_canonical_ac": "O88573-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Ser1024", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "5", "chr_pos": "103994182", "evidence": [ { "id": "rs5527269235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527269235" } ] } ] } ], "record_id": "O88573-1" }, { "uniprot_canonical_ac": "P59016-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 617, "chemical_mass": 70526.0, "gene_names": "Vps33b;Vps33b", "protein_name": "Vacuolar protein sorting-associated protein 33B", "disease": [ { "disease_id": "DOID:0050763", "name": "ARC syndrome", "description": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0050763", "evidence": [ { "id": "0050763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050763" } ], "weight": 0.0 }, { "disease_id": "DOID:0070221", "name": "progressive familial intrahepatic cholestasis", "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.", "url": "https://disease-ontology.org/term/DOID:0070221", "evidence": [ { "id": "0070221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070221" } ], "weight": 0.0 }, { "disease_id": "DOID:0080954", "name": "arthrogryposis multiplex congenita", "description": "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.", "url": "https://disease-ontology.org/term/DOID:0080954", "evidence": [ { "id": "0080954", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080954" } ], "weight": 0.0 }, { "disease_id": "DOID:0111353", "name": "arthrogryposis, renal dysfunction, and cholestasis 1", "description": "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111353", "evidence": [ { "id": "0111353", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111353" } ], "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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "HOPS complex", "id": "GO:0030897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030897", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "vesicle tethering complex", "id": "GO:0099023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099023", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "CORVET complex", "id": "GO:0033263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033263", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" } ], "biological_process": [ { "name": "platelet alpha granule organization", "id": "GO:0070889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070889", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "melanosome localization", "id": "GO:0032400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032400", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "regulation of platelet aggregation", "id": "GO:0090330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090330", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "peptidyl-lysine hydroxylation", "id": "GO:0017185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017185", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P59016", "url": "https://www.uniprot.org/uniprotkb/P59016" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59016-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Asn54", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IANVSILK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 54, "start_aa": "Asn", "end_pos": 54, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn54", "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" } ] } ] } ], "record_id": "P59016-1" }, { "uniprot_canonical_ac": "Q7M6U3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1450, "chemical_mass": 162541.0, "gene_names": "Tex14;Tex14", "protein_name": "Inactive serine/threonine-protein kinase TEX14", "disease": [ { "disease_id": "DOID:0070181", "name": "spermatogenic failure 23", "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23.", "url": "https://disease-ontology.org/term/DOID:0070181", "evidence": [ { "id": "0070181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070181" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intercellular bridge organization", "id": "GO:0043063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043063", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "mitotic sister chromatid separation", "id": "GO:0051306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051306", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "negative regulation of cytokinesis", "id": "GO:0032466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032466", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1060", "end_pos": "1060", "site_lbl": "Ser1060", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1221", "end_pos": "1221", "site_lbl": "Ser1221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Ser1357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1358", "end_pos": "1358", "site_lbl": "Ser1358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1412", "end_pos": "1412", "site_lbl": "Ser1412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "1449", "end_pos": "1449", "site_lbl": "Ser1449", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ser175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "iPTMnet", "id": "Q7M6U3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M6U3" }, { "database": "PubMed", "id": "22405274", "url": "https://glygen.org/publication/PubMed/22405274" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced phosphorylation by PLK1 and abolishes depletion from kinetochores and subsequent degradation by the APC/C complex.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "22405274", "url": "https://glygen.org/publication/PubMed/22405274" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimicks phosphorylation state; inducing early depletion from kinetochores and subsequent degradation by the APC/C complex.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "22405274", "url": "https://glygen.org/publication/PubMed/22405274" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Mimicks phosphorylation state; inducing early depletion from kinetochores and subsequent degradation by the APC/C complex.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "22405274", "url": "https://glygen.org/publication/PubMed/22405274" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Ser662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Gly791", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Does not affect interaction with CEP55.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "20176808", "url": "https://glygen.org/publication/PubMed/20176808" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Pro792", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes interaction with CEP55.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "20176808", "url": "https://glygen.org/publication/PubMed/20176808" } ] } ] }, { "uniprot_canonical_ac": "Q7M6U3-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Tyr797", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with CEP55.", "evidence": [ { "database": "UniProtKB", "id": "Q7M6U3", "url": "https://www.uniprot.org/uniprotkb/Q7M6U3" }, { "database": "PubMed", "id": "20176808", "url": "https://glygen.org/publication/PubMed/20176808" } ] } ] } ], "record_id": "Q7M6U3-1" }, { "uniprot_canonical_ac": "P50544-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 656, "chemical_mass": 70875.0, "gene_names": "Acadvl;Acadvl;Vlcad;vlcad", "protein_name": "Very long-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080155", "name": "very long chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.", "url": "https://disease-ontology.org/term/DOID:0080155", "evidence": [ { "id": "0080155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080155" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "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 } ], "biological_process": [ { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "negative regulation of fatty acid biosynthetic process", "id": "GO:0045717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045717", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "negative regulation of fatty acid oxidation", "id": "GO:0046322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046322", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" } ], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0004466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004466", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "very-long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0017099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017099", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50544-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Asn366", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVDHATNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 366, "start_aa": "Asn", "end_pos": 366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn366", "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": "P50544-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ] } ] }, { "uniprot_canonical_ac": "P50544-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50544", "url": "https://www.uniprot.org/uniprotkb/P50544" } ] } ] }, { "uniprot_canonical_ac": "P50544-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Arg342", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "11", "chr_pos": "69903328", "evidence": [ { "id": "rs3548689183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548689183" } ] } ] }, { "uniprot_canonical_ac": "P50544-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ala620", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "11", "chr_pos": "69901235", "evidence": [ { "id": "rs3389143421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389143421" } ] } ] } ], "record_id": "P50544-1" }, { "uniprot_canonical_ac": "P12657-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 460, "chemical_mass": 51379.0, "gene_names": "Chrm1;Chrm-1;Chrm1;M1R;M1", "protein_name": "Muscarinic acetylcholine receptor M1", "disease": [ { "disease_id": "DOID:0050214", "name": "Lambert-Eaton myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.", "url": "https://disease-ontology.org/term/DOID:0050214", "evidence": [ { "id": "0050214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050214" } ], "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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "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": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007213", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "positive regulation of monoatomic ion transport", "id": "GO:0043270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043270", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "saliva secretion", "id": "GO:0046541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046541", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane potential", "id": "GO:0060078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060078", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled acetylcholine receptor activity", "id": "GO:0016907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016907", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12657-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 12, "start_aa": "Asn", "end_pos": 12, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn12", "evidence": [ { "id": "P12657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12657#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "evidence": [ { "id": "P12657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12657#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Thr230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P12657", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12657" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Thr455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ] } ] }, { "uniprot_canonical_ac": "P12657-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Ser457", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12657", "url": "https://www.uniprot.org/uniprotkb/P12657" } ] } ] } ], "record_id": "P12657-1" }, { "uniprot_canonical_ac": "P28474-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 374, "chemical_mass": 39548.0, "gene_names": "Adh5;Adh-2;Adh-5;Adh2;Adh3;Adh5;GSNOR", "protein_name": "Alcohol dehydrogenase class-3", "disease": [ { "disease_id": "DOID:0080952", "name": "AMED syndrome", "description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.", "url": "https://disease-ontology.org/term/DOID:0080952", "evidence": [ { "id": "0080952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080952" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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 } ], "biological_process": [ { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "respiratory system process", "id": "GO:0003016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003016", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylation", "id": "GO:0018119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018119", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "formaldehyde catabolic process", "id": "GO:0046294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046294", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "response to nitrosative stress", "id": "GO:0051409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051409", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "response to redox state", "id": "GO:0051775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051775", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "fatty acid omega-oxidation", "id": "GO:0010430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010430", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" } ], "molecular_function": [ { "name": "alcohol dehydrogenase (NAD+) activity", "id": "GO:0004022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004022", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "formaldehyde dehydrogenase (NAD+) activity", "id": "GO:0018467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018467", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity", "id": "GO:0051903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051903", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "S-nitrosoglutathione reductase (NADH) activity", "id": "GO:0080007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080007", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NADP+) activity", "id": "GO:0106321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106321", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NAD+) activity", "id": "GO:0106322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106322", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P28474-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" }, { "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": "P28474", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28474" } ] } ] }, { "uniprot_canonical_ac": "P28474-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ] } ] }, { "uniprot_canonical_ac": "P28474-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28474", "url": "https://www.uniprot.org/uniprotkb/P28474" } ] } ] } ], "record_id": "P28474-1" }, { "uniprot_canonical_ac": "P21981-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 686, "chemical_mass": 77061.0, "gene_names": "Tgm2;G[a]h;TG2;TGase2;Tgm2;tTGas;tTG", "protein_name": "Protein-glutamine gamma-glutamyltransferase 2", "disease": [ { "disease_id": "DOID:0050524", "name": "maturity-onset diabetes of the young", "description": "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.", "url": "https://disease-ontology.org/term/DOID:0050524", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine", "id": "GO:0018153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018153", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum calcium ion concentration", "id": "GO:0032471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032471", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial calcium ion concentration", "id": "GO:0051561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051561", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "salivary gland cavitation", "id": "GO:0060662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060662", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "cellular response to cocaine", "id": "GO:0071314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071314", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "regulation of apoptotic cell clearance", "id": "GO:2000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000425", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "protein deamination", "id": "GO:0018277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018277", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "dopamine secretion", "id": "GO:0014046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014046", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "cellular response to serotonin", "id": "GO:1904015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904015", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "protein-glutamine gamma-glutamyltransferase activity", "id": "GO:0003810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003810", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "protein-glutamine glutaminase activity", "id": "GO:0050568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050568", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "histone serotonyltransferase activity", "id": "GO:0120295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120295", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "histone dopaminyltransferase activity", "id": "GO:0120297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120297", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "peptide noradrenalinyltransferase activity", "id": "GO:0120298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120298", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "peptide histaminyltransferase activity", "id": "GO:0120299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120299", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P21981", "url": "https://www.uniprot.org/uniprotkb/P21981" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P21981-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Thr360", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P21981-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P21981", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21981" }, { "database": "PubMed", "id": "22142843", "url": "https://glygen.org/publication/PubMed/22142843" } ] } ] }, { "uniprot_canonical_ac": "P21981-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P21981", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21981" }, { "database": "PubMed", "id": "22759359", "url": "https://glygen.org/publication/PubMed/22759359" } ] } ] }, { "uniprot_canonical_ac": "P21981-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asp210", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCS->NCS).", "chr_id": "2", "chr_pos": "157974402", "evidence": [ { "id": "rs3388604993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388604993" } ] } ] } ], "record_id": "P21981-1" }, { "uniprot_canonical_ac": "Q91YX0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 663, "chemical_mass": 74378.0, "gene_names": "Themis2;ICB-1;Icb1;Themis2", "protein_name": "Protein THEMIS2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "pmid": "" }, { "name": "regulation of B cell activation", "id": "GO:0050864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050864", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YX0-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Thr596", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ] } ] }, { "uniprot_canonical_ac": "Q91YX0-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Tyr660", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" }, { "database": "PubMed", "id": "20644716", "url": "https://glygen.org/publication/PubMed/20644716" }, { "database": "iPTMnet", "id": "Q91YX0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YX0" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation. Loss of LYN-binding. Slight decrease in GRB2-binding. No effect on VAV-binding. Partial loss of enhancement of LPS-induced TNF production.", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" }, { "database": "PubMed", "id": "20644716", "url": "https://glygen.org/publication/PubMed/20644716" } ] } ] }, { "uniprot_canonical_ac": "Q91YX0-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Pro552", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Drastic decrease in GRB2-binding, but no effect on VAV-binding; when associated with A-555. Partial loss of enhancement of LPS-induced TNF production; when associated with A-555.", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ] } ] }, { "uniprot_canonical_ac": "Q91YX0-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Pro555", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Drastic decrease in GRB2-binding, but no effect on VAV-binding; when associated with A-552. Partial loss of enhancement of LPS-induced TNF production; when associated with A-552.", "evidence": [ { "database": "UniProtKB", "id": "Q91YX0", "url": "https://www.uniprot.org/uniprotkb/Q91YX0" } ] } ] } ], "record_id": "Q91YX0-1" }, { "uniprot_canonical_ac": "Q80UF7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 732, "chemical_mass": 79230.0, "gene_names": "Ticam1;TICAM-1;TRIF;Ticam1;Trif", "protein_name": "TIR domain-containing adapter molecule 1", "disease": [ { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "ripoptosome", "id": "GO:0097342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097342", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "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": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "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": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "TRIF-dependent toll-like receptor signaling pathway", "id": "GO:0035666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035666", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "toll-like receptor 3 signaling pathway", "id": "GO:0034138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034138", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "MyD88-independent toll-like receptor signaling pathway", "id": "GO:0002756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002756", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell activation", "id": "GO:0032816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032816", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "macrophage activation involved in immune response", "id": "GO:0002281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002281", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" }, { "name": "positive regulation of myeloid dendritic cell cytokine production", "id": "GO:0002735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002735", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Thr175", "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": 175, "start_aa": "Thr", "end_pos": 175, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr175", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q80UF7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80UF7" }, { "id": "Q80UF7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80UF7" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Thr603", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 603, "start_aa": "Thr", "end_pos": 603, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr603", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ser209", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TNS->NNS).", "chr_id": "17", "chr_pos": "56578507", "evidence": [ { "id": "rs50978986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50978986" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Asp449", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "17", "chr_pos": "56577749", "evidence": [ { "id": "rs49420035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49420035" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Lys228", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by TRIM38.", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" }, { "database": "PubMed", "id": "26392463", "url": "https://glygen.org/publication/PubMed/26392463" } ] } ] }, { "uniprot_canonical_ac": "Q80UF7-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Lys321", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ubiquitination by TRIM38.", "evidence": [ { "database": "UniProtKB", "id": "Q80UF7", "url": "https://www.uniprot.org/uniprotkb/Q80UF7" }, { "database": "PubMed", "id": "26392463", "url": "https://glygen.org/publication/PubMed/26392463" } ] } ] } ], "record_id": "Q80UF7-1" }, { "uniprot_canonical_ac": "O88342-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 606, "chemical_mass": 66407.0, "gene_names": "Wdr1;Aip1;D5Wsu185e;Wdr1;rede", "protein_name": "WD repeat-containing protein 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" } ], "biological_process": [ { "name": "apical junction assembly", "id": "GO:0043297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043297", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "establishment of planar polarity of follicular epithelium", "id": "GO:0042247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042247", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "regulation of actin filament depolymerization", "id": "GO:0030834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030834", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "neutrophil mediated immunity", "id": "GO:0002446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002446", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane repolarization", "id": "GO:0060307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060307", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "maintenance of epithelial cell apical/basal polarity", "id": "GO:0045199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045199", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "regulation of oligodendrocyte differentiation", "id": "GO:0048713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048713", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "neutrophil migration", "id": "GO:1990266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990266", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "actin filament fragmentation", "id": "GO:0030043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030043", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "positive regulation of actin filament depolymerization", "id": "GO:0030836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030836", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88342-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Asn374", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G78196ML", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MTVNESEQLVSCSMDDTVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 374, "start_aa": "Asn", "end_pos": 374, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn374", "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": "O88342-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Thr465", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 465, "start_aa": "Thr", "end_pos": 465, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr465", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88342-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Tyr238", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88342", "url": "https://www.uniprot.org/uniprotkb/O88342" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "O88342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88342" } ] } ] }, { "uniprot_canonical_ac": "O88342-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asp77", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "5", "chr_pos": "38692675", "evidence": [ { "id": "rs3388744905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744905" } ] } ] } ], "record_id": "O88342-1" }, { "uniprot_canonical_ac": "Q8R090-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 521, "chemical_mass": 56033.0, "gene_names": "Slc18a1;4832416I10Rik;Slc18a1;Vat1;Vmat1", "protein_name": "Chromaffin granule amine transporter", "disease": [ { "disease_id": "DOID:14175", "name": "von Hippel-Lindau disease", "description": "", "url": "https://disease-ontology.org/term/DOID:14175", "evidence": [ { "id": "14175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14175" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "serotonin:sodium:chloride symporter activity", "id": "GO:0005335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005335", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "monoamine:proton antiporter activity", "id": "GO:0015311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015311", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" } ], "cellular_component": [ { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of dopamine secretion", "id": "GO:0033603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033603", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "negative regulation of serotonin uptake", "id": "GO:0051612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051612", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "aminergic neurotransmitter loading into synaptic vesicle", "id": "GO:0015842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015842", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" }, { "name": "norepinephrine uptake", "id": "GO:0051620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051620", "evidence": [ { "database": "UniProtKB", "id": "Q8R090", "url": "https://www.uniprot.org/uniprotkb/Q8R090" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R090-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "Q8R090", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R090#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R090-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "Q8R090", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R090#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R090-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q8R090", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R090#ptm_processing" } ] } ] } ], "record_id": "Q8R090-1" }, { "uniprot_canonical_ac": "Q9Z1L4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 224, "chemical_mass": 25575.0, "gene_names": "Rs1;Rs1h;Rs1;Xlrs1;tmgc1", "protein_name": "Retinoschisin", "disease": [ { "disease_id": "DOID:0060763", "name": "X-linked juvenile retinoschisis 1", "description": "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:0060763", "evidence": [ { "id": "0060763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060763" } ], "weight": 0.0 }, { "disease_id": "DOID:8465", "name": "retinoschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:8465", "evidence": [ { "id": "8465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8465" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "neuron to neuron synapse", "id": "GO:0098984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098984", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1L4-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Tyr89", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Decreases phosphatidylserine binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" }, { "database": "PubMed", "id": "17325137", "url": "https://glygen.org/publication/PubMed/17325137" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1L4-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Trp92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Decreases phosphatidylserine binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1L4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1L4" }, { "database": "PubMed", "id": "17325137", "url": "https://glygen.org/publication/PubMed/17325137" } ] } ] } ], "record_id": "Q9Z1L4-1" }, { "uniprot_canonical_ac": "Q8CC88-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1905, "chemical_mass": 213421.0, "gene_names": "Vwa8;1300010F03Rik;4932416F07Rik;Kiaa0564;Vwa8;mKIAA0564", "protein_name": "von Willebrand factor A domain-containing protein 8", "disease": [ { "disease_id": "DOID:0061110", "name": "retinitis pigmentosa 97", "description": "A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14.", "url": "https://disease-ontology.org/term/DOID:0061110", "evidence": [ { "id": "0061110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061110" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprotkb/Q8CC88" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CC88-1", "start_pos": "1169", "end_pos": "1169", "site_lbl": "Thr1169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1169, "start_aa": "Thr", "end_pos": 1169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1169", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CC88-1", "start_pos": "1407", "end_pos": "1407", "site_lbl": "Asn1407", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G03238UC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPSVTSMTMYTGKRTNATPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1407, "start_aa": "Asn", "end_pos": 1407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1407", "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": "Q8CC88-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Asn854", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "APTNVTCILK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 854, "start_aa": "Asn", "end_pos": 854, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn854", "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": "Q8CC88-1", "start_pos": "722", "end_pos": "722", "site_lbl": "Lys722", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYK->NYT).", "chr_id": "14", "chr_pos": "79256151", "evidence": [ { "id": "rs3405313529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405313529" } ] } ] } ], "record_id": "Q8CC88-1" }, { "uniprot_canonical_ac": "Q8K4P0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1330, "chemical_mass": 145267.0, "gene_names": "Wdr33;1110001N06Rik;2310011G05Rik;2810021O11Rik;8430413N20Rik;WDC146;Wdc146;Wdr33", "protein_name": "pre-mRNA 3' end processing protein WDR33", "disease": [ { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA 3'-end processing", "id": "GO:0031124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031124", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K4P0-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Ser1204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ] } ] }, { "uniprot_canonical_ac": "Q8K4P0-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4P0", "url": "https://www.uniprot.org/uniprotkb/Q8K4P0" } ] } ] } ], "record_id": "Q8K4P0-1" }, { "uniprot_canonical_ac": "Q8R105-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 38453.0, "gene_names": "Vps37c;5730409F24Rik;Vps37c", "protein_name": "Vacuolar protein sorting-associated protein 37C", "disease": [], "biological_process": [ { "name": "multivesicular body assembly", "id": "GO:0036258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036258", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "viral budding via host ESCRT complex", "id": "GO:0039702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039702", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "protein targeting to vacuole", "id": "GO:0006623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006623", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" }, { "name": "ESCRT I complex", "id": "GO:0000813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000813", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R105-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Thr", "end_pos": 185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr185", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R105-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Thr217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Thr", "end_pos": 217, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr217", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R105-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Thr311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R105-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Thr337", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 337, "start_aa": "Thr", "end_pos": 337, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr337", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R105-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Asn46", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EMALATNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "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": "Q8R105-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R105", "url": "https://www.uniprot.org/uniprotkb/Q8R105" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R105" } ] } ] } ], "record_id": "Q8R105-1" }, { "uniprot_canonical_ac": "Q7TQ40-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 622, "chemical_mass": 64542.0, "gene_names": "Zic5;1700049L20Rik;Opr;Zic5", "protein_name": "Zinc finger protein ZIC 5", "disease": [ { "disease_id": "DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.", "url": "https://disease-ontology.org/term/DOID:4621", "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "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": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" } ], "biological_process": [ { "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": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQ40-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Ser495", "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": 495, "start_aa": "Ser", "end_pos": 495, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser495", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q7TQ40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQ40" }, { "id": "Q7TQ40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQ40" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "14", "chr_pos": "122697130", "evidence": [ { "id": "rs3389365649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389365649" } ] } ] }, { "uniprot_canonical_ac": "Q7TQ40-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQ40" } ] } ] }, { "uniprot_canonical_ac": "Q7TQ40-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQ40" } ] } ] }, { "uniprot_canonical_ac": "Q7TQ40-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ser559", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ40", "url": "https://www.uniprot.org/uniprotkb/Q7TQ40" } ] } ] } ], "record_id": "Q7TQ40-1" }, { "uniprot_canonical_ac": "Q6P1E1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1072, "chemical_mass": 115851.0, "gene_names": "Zmiz1;E330020C23;Gm10397;I920194n01;Rai17;Zimp10;Zmiz1", "protein_name": "Zinc finger MIZ domain-containing protein 1", "disease": [ { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "SUMO ligase activity", "id": "GO:0061665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061665", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" } ], "biological_process": [ { "name": "vitellogenesis", "id": "GO:0007296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007296", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "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": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "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": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "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": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "androgen receptor signaling pathway", "id": "GO:0030521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030521", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "pyramidal neuron migration to cerebral cortex", "id": "GO:0021852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021852", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "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": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q6P1E1", "url": "https://www.uniprot.org/uniprotkb/Q6P1E1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P1E1-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Thr329", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 329, "start_aa": "Thr", "end_pos": 329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr329", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P1E1-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Thr524", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 524, "start_aa": "Thr", "end_pos": 524, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr524", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q6P1E1-1" }, { "uniprot_canonical_ac": "Q8C0C0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 836, "chemical_mass": 92259.0, "gene_names": "Zhx2;Afr-1;Afr1;Raf;Zhx2;mKIAA0854", "protein_name": "Zinc fingers and homeoboxes protein 2", "disease": [], "biological_process": [ { "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": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "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": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "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": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0C0-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Thr150", "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": 150, "start_aa": "Thr", "end_pos": 150, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8C0C0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C0C0" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8C0C0-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "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": 265, "start_aa": "Thr", "end_pos": 265, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr265", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8C0C0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C0C0" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8C0C0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C0C0" } ] } ] }, { "uniprot_canonical_ac": "Q8C0C0-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0C0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0C0" } ] } ] }, { "uniprot_canonical_ac": "Q8C0C0-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Ser826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0C0", "url": "https://www.uniprot.org/uniprotkb/Q8C0C0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0C0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0C0" } ] } ] }, { "uniprot_canonical_ac": "Q8C0C0-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Tyr122", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YDS->NDS).", "chr_id": "15", "chr_pos": "57684996", "evidence": [ { "id": "rs3389312552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312552" } ] } ] } ], "record_id": "Q8C0C0-1" }, { "uniprot_canonical_ac": "P12961-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 23866.0, "gene_names": "Scg5;7B2;Scg5;Sgne-1;Sgne1", "protein_name": "Neuroendocrine protein 7B2", "disease": [ { "disease_id": "DOID:3946", "name": "pituitary-dependent Cushing's disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3946", "evidence": [ { "id": "3946", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3946" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "peptide hormone processing", "id": "GO:0016486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016486", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" }, { "name": "regulation of hormone secretion", "id": "GO:0046883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046883", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12961-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P12961", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12961" } ] } ] }, { "uniprot_canonical_ac": "P12961-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P12961", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12961" } ] } ] }, { "uniprot_canonical_ac": "P12961-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Arg177", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on proteolytic processing. Abolishes proteolytic processing; when associated with G-178.", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" }, { "database": "PubMed", "id": "8034690", "url": "https://glygen.org/publication/PubMed/8034690" } ] } ] }, { "uniprot_canonical_ac": "P12961-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Arg178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes proteolytic processing; when associated with A-177.", "evidence": [ { "database": "UniProtKB", "id": "P12961", "url": "https://www.uniprot.org/uniprotkb/P12961" }, { "database": "PubMed", "id": "8034690", "url": "https://glygen.org/publication/PubMed/8034690" } ] } ] } ], "record_id": "P12961-1" }, { "uniprot_canonical_ac": "Q8BYL4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 472, "chemical_mass": 52597.0, "gene_names": "Yars2;2210023C10Rik;Yars2;tyrRS", "protein_name": "Tyrosine--tRNA ligase, mitochondrial", "disease": [ { "disease_id": "DOID:0111186", "name": "myopathy, lactic acidosis, and sideroblastic anemia 2", "description": "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.", "url": "https://disease-ontology.org/term/DOID:0111186", "evidence": [ { "id": "0111186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111186" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitochondrial tyrosyl-tRNA aminoacylation", "id": "GO:0070184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070184", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "tRNA aminoacylation", "id": "GO:0043039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043039", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "tyrosyl-tRNA aminoacylation", "id": "GO:0006437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006437", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "L-tyrosine binding", "id": "GO:0072545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072545", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "tyrosine-tRNA ligase activity", "id": "GO:0004831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004831", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8BYL4", "url": "https://www.uniprot.org/uniprotkb/Q8BYL4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BYL4-1" }, { "uniprot_canonical_ac": "Q9CQ44-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQ44", "url": "https://www.uniprot.org/uniprotkb/Q9CQ44" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 12464.0, "gene_names": "Tmem218;1810021J13Rik;Tmem218", "protein_name": "Transmembrane protein 218", "disease": [ { "disease_id": "DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.", "url": "https://disease-ontology.org/term/DOID:0050576", "evidence": [ { "id": "0050576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050576" } ], "weight": 0.0 }, { "disease_id": "DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", "url": "https://disease-ontology.org/term/DOID:0050777", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ44", "url": "https://www.uniprot.org/uniprotkb/Q9CQ44" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ44", "url": "https://www.uniprot.org/uniprotkb/Q9CQ44" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQ44-1" }, { "uniprot_canonical_ac": "Q9JKD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 530, "chemical_mass": 57852.0, "gene_names": "Tbx21;TBT1;Tbet;Tblym;Tbx21", "protein_name": "T-box transcription factor TBX21", "disease": [ { "disease_id": "DOID:0061058", "name": "immunodeficiency 88", "description": "A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0061058", "evidence": [ { "id": "0061058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061058" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "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:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "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: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:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell differentiation", "id": "GO:2000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000320", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "T-helper 1 cell lineage commitment", "id": "GO:0002296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002296", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "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": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell cytokine production", "id": "GO:2000552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000552", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "lymphocyte migration", "id": "GO:0072676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072676", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell cytokine production", "id": "GO:2000556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000556", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell lineage commitment", "id": "GO:2000329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000329", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Thr415", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 415, "start_aa": "Thr", "end_pos": 415, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr415", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "96989948", "evidence": [ { "id": "rs3389193268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389193268" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Tyr117", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No loss in its ability to induce IFN-gamma.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Tyr219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Significant loss of ABL1-mediated phosphorylation and loss of transcriptional activator activity; when associated with F-225 and F-304.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss in its ability to induce IFN-gamma. Significant reduction in its ability to induce IFN-gamma and reduced ability to promote addition of permissive chromatin-remodeling mark H3K4Me2 to the IFNG promoter region; when associated with A-52 and A-76.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Tyr265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of interaction with RUNX1.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "21151104", "url": "https://glygen.org/publication/PubMed/21151104" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Significant loss of ABL1-mediated phosphorylation and loss of transcriptional activator activity; when associated with F-219 and F-304.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Thr302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of phosphorylation and its ability to interact with NFATC2. Loss of its ability to suppress IL-2 and Th2 cytokine production. No loss of DNA-binding and no loss its ability to activate IFN-gamma transcription.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Tyr304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of interaction with RUNX1 and loss of its ability to inhibit RUNX1 transcriptional activity and suppress TH17 lineage development. Significant loss of ABL1-mediated phosphorylation and loss of transcriptional activator activity; when associated with F-219 and F-225.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "21690296", "url": "https://glygen.org/publication/PubMed/21690296" }, { "database": "PubMed", "id": "21151104", "url": "https://glygen.org/publication/PubMed/21151104" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Ser498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "29133416", "url": "https://glygen.org/publication/PubMed/29133416" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "29133416", "url": "https://glygen.org/publication/PubMed/29133416" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of interaction with RUNX1. No loss in its ability to induce IFN-gamma.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "PubMed", "id": "21151104", "url": "https://glygen.org/publication/PubMed/21151104" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Tyr525", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" }, { "database": "PubMed", "id": "15662016", "url": "https://glygen.org/publication/PubMed/15662016" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of interaction with RUNX1. Loss of interaction with ITK and GATA3.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "15662016", "url": "https://glygen.org/publication/PubMed/15662016" }, { "database": "PubMed", "id": "21151104", "url": "https://glygen.org/publication/PubMed/21151104" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss in its ability to induce IFN-gamma. Significant reduction in its ability to induce IFN-gamma and reduced ability to promote addition of permissive chromatin-remodeling mark H3K4Me2 to the IFNG promoter region; when associated with A-76 and A-224.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Thr55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss in its ability to induce IFN-gamma.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Tyr76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" }, { "database": "iPTMnet", "id": "Q9JKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKD8" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No loss in its ability to induce IFN-gamma. Significant reduction in its ability to induce IFN-gamma and reduced ability to promote addition of permissive chromatin-remodeling mark H3K4Me2 to the IFNG promoter region; when associated with A-52 and A-224.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "28424242", "url": "https://glygen.org/publication/PubMed/28424242" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Lys208", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on DNA-binding or its nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Thr310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of phospshorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Lys313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Significant loss of ubiquitination. Loss of phosphorylation at T-302 causing loss of its ability to interact with NFATC2. Loss its ability to activate IFN-gamma transcription due to loss of DNA-binding activity. Loss of its ability to suppress IL-2 and Th2 cytokine production. Increased protein stability. Localization seen in both the nucleus and cytoplasm. No loss of interaction with GATA3 and RELA.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Lys321", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on DNA-binding or its nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "23616576", "url": "https://glygen.org/publication/PubMed/23616576" } ] } ] }, { "uniprot_canonical_ac": "Q9JKD8-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Tyr437", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of interaction with ITK and GATA3.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD8", "url": "https://www.uniprot.org/uniprotkb/Q9JKD8" }, { "database": "PubMed", "id": "15662016", "url": "https://glygen.org/publication/PubMed/15662016" } ] } ] } ], "record_id": "Q9JKD8-1" }, { "uniprot_canonical_ac": "Q5F285-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5F285", "url": "https://www.uniprot.org/uniprotkb/Q5F285" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 11656.0, "gene_names": "Tmem256;1810027O10Rik;3110009M16Rik;Tmem256", "protein_name": "Transmembrane protein 256", "disease": [], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5F285", "url": "https://www.uniprot.org/uniprotkb/Q5F285" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5F285", "url": "https://www.uniprot.org/uniprotkb/Q5F285" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5F285-1" }, { "uniprot_canonical_ac": "P52196-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 297, "chemical_mass": 33466.0, "gene_names": "Tst;Tst;rhodanese", "protein_name": "Thiosulfate sulfurtransferase", "disease": [], "molecular_function": [ { "name": "sulfurtransferase activity", "id": "GO:0016783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016783", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "5S rRNA binding", "id": "GO:0008097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008097", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "thiosulfate-cyanide sulfurtransferase activity", "id": "GO:0004792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004792", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA transport", "id": "GO:0051029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051029", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "rRNA import into mitochondrion", "id": "GO:0035928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035928", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P52196-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 35, "start_aa": "Ser", "end_pos": 35, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser35", "evidence": [ { "id": "P52196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P52196#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P52196-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52196", "url": "https://www.uniprot.org/uniprotkb/P52196" } ] } ] }, { "uniprot_canonical_ac": "P52196-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Tyr262", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLC->NLC).", "chr_id": "15", "chr_pos": "78284042", "evidence": [ { "id": "rs3406179627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406179627" } ] } ] } ], "record_id": "P52196-1" }, { "uniprot_canonical_ac": "Q62441-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 773, "chemical_mass": 83787.0, "gene_names": "Tle4;5730411M05Rik;Bce-1;Bce1;ESTM13;ESTM14;Grg4;Tle4;grg-4", "protein_name": "Transducin-like enhancer protein 4", "disease": [], "biological_process": [ { "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": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "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": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" }, { "name": "beta-catenin-TCF complex", "id": "GO:1990907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990907", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62441-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "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": 292, "start_aa": "Ser", "end_pos": 292, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser292", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62441", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "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": 295, "start_aa": "Ser", "end_pos": 295, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser295", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "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": 299, "start_aa": "Ser", "end_pos": 299, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser299", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Thr302", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 302, "start_aa": "Thr", "end_pos": 302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr302", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ser305", "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": 305, "start_aa": "Ser", "end_pos": 305, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser305", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "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": 330, "start_aa": "Thr", "end_pos": 330, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "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": 334, "start_aa": "Thr", "end_pos": 334, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr334", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62441", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62441" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 334, "start_aa": "Thr", "end_pos": 334, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr334", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "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": 340, "start_aa": "Thr", "end_pos": 340, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr340", "evidence": [ { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q62441", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q62441" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 340, "start_aa": "Thr", "end_pos": 340, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr340", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Thr372", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 372, "start_aa": "Thr", "end_pos": 372, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr372", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Asn438", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VPAIPPNLTGIPGGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 438, "start_aa": "Asn", "end_pos": 438, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn438", "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": "Q62441-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Thr318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62441", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62441", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Thr325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62441", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Thr327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] }, { "uniprot_canonical_ac": "Q62441-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62441", "url": "https://www.uniprot.org/uniprotkb/Q62441" } ] } ] } ], "record_id": "Q62441-1" }, { "uniprot_canonical_ac": "Q8K2L8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 797, "chemical_mass": 87694.0, "gene_names": "Trappc12;CGI-87;D930014A20Rik;Trappc12;Ttc15", "protein_name": "Trafficking protein particle complex subunit 12", "disease": [], "biological_process": [ { "name": "metaphase chromosome alignment", "id": "GO:0051310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051310", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "positive regulation of protein localization to kinetochore", "id": "GO:1905342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905342", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "COPII vesicle coating", "id": "GO:0048208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048208", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "regulation of kinetochore assembly", "id": "GO:0090234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090234", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "vesicle tethering", "id": "GO:0099022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099022", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Asn126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVVDTLSNGSETDGDDTPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "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": "Q8K2L8-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Thr213", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 213, "start_aa": "Thr", "end_pos": 213, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr213", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Asn399", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G69521XL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENLTMPGLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 399, "start_aa": "Asn", "end_pos": 399, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn399", "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": "Q8K2L8-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" }, { "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": "Q8K2L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" }, { "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": "Q8K2L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" }, { "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": "Q8K2L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" }, { "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": "Q8K2L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2L8", "url": "https://www.uniprot.org/uniprotkb/Q8K2L8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2L8" } ] } ] }, { "uniprot_canonical_ac": "Q8K2L8-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Arg456", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWR->NWS).", "chr_id": "12", "chr_pos": "28772458", "evidence": [ { "id": "rs3389203036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389203036" } ] } ] } ], "record_id": "Q8K2L8-1" }, { "uniprot_canonical_ac": "Q99J99-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 297, "chemical_mass": 33097.0, "gene_names": "Mpst;3MST;Mpst;Mst", "protein_name": "3-mercaptopyruvate sulfurtransferase", "disease": [ { "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 } ], "biological_process": [ { "name": "tRNA wobble position uridine thiolation", "id": "GO:0002143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002143", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "transsulfuration", "id": "GO:0019346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019346", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "hydrogen sulfide biosynthetic process", "id": "GO:0070814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070814", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-mercaptopyruvate sulfurtransferase activity", "id": "GO:0016784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016784", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "thiosulfate-cyanide sulfurtransferase activity", "id": "GO:0004792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004792", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "sulfurtransferase activity", "id": "GO:0016783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016783", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J99-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" } ] } ] }, { "uniprot_canonical_ac": "Q99J99-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Arg188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes hydrogen sulfide production. Slightly increased basal levels of bound persulfide.", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" }, { "database": "PubMed", "id": "18855522", "url": "https://glygen.org/publication/PubMed/18855522" } ] } ] }, { "uniprot_canonical_ac": "Q99J99-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Arg197", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Reduces hydrogen sulfide production by 50%. No change in basal levels of bound persulfide.", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" }, { "database": "PubMed", "id": "18855522", "url": "https://glygen.org/publication/PubMed/18855522" } ] } ] }, { "uniprot_canonical_ac": "Q99J99-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Cys248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of redox potential. Abolishes bound persulfide and hydrogen sulfide production.", "evidence": [ { "database": "UniProtKB", "id": "Q99J99", "url": "https://www.uniprot.org/uniprotkb/Q99J99" }, { "database": "PubMed", "id": "18855522", "url": "https://glygen.org/publication/PubMed/18855522" } ] } ] } ], "record_id": "Q99J99-1" }, { "uniprot_canonical_ac": "Q80X56-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 500, "chemical_mass": 57312.0, "gene_names": "Trim69;4921519C19Rik;Rnf36;Trif;Trim69;Trimless", "protein_name": "E3 ubiquitin-protein ligase TRIM69", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" }, { "name": "centrosome separation", "id": "GO:0051299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051299", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80X56-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80X56", "url": "https://www.uniprot.org/uniprotkb/Q80X56" } ] } ] } ], "record_id": "Q80X56-1" }, { "uniprot_canonical_ac": "Q8BFW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 522, "chemical_mass": 58458.0, "gene_names": "Trim65;4732463G12Rik;Trim65", "protein_name": "E3 ubiquitin-protein ligase TRIM65", "disease": [], "biological_process": [ { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "positive regulation of protein oligomerization", "id": "GO:0032461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032461", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BFW4-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 84, "start_aa": "Thr", "end_pos": 84, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BFW4-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BFW4", "url": "https://www.uniprot.org/uniprotkb/Q8BFW4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BFW4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BFW4" } ] } ] } ], "record_id": "Q8BFW4-1" }, { "uniprot_canonical_ac": "Q99PJ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 61602.0, "gene_names": "Trim8;GERP;Gerp;Rnf27;Trim8", "protein_name": "E3 ubiquitin-protein ligase TRIM8", "disease": [], "biological_process": [ { "name": "negative regulation of viral transcription", "id": "GO:0032897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032897", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase kinase kinase binding", "id": "GO:0031435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031435", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q99PJ2", "url": "https://www.uniprot.org/uniprotkb/Q99PJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99PJ2-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Thr509", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 509, "start_aa": "Thr", "end_pos": 509, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr509", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99PJ2-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Gly482", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHG->NHS).", "chr_id": "19", "chr_pos": "46503893", "evidence": [ { "id": "rs255994748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255994748" } ] } ] } ], "record_id": "Q99PJ2-1" }, { "uniprot_canonical_ac": "P35561-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 428, "chemical_mass": 48389.0, "gene_names": "Kcnj2;IRK1;Irk1;Kcnf1;Kcnj2;Kir2.1", "protein_name": "Inward rectifier potassium channel 2", "disease": [ { "disease_id": "DOID:0050434", "name": "Andersen-Tawil syndrome", "description": "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.", "url": "https://disease-ontology.org/term/DOID:0050434", "evidence": [ { "id": "0050434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050434" } ], "weight": 0.0 }, { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { "disease_id": "DOID:0050793", "name": "short QT syndrome", "description": "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.", "url": "https://disease-ontology.org/term/DOID:0050793", "evidence": [ { "id": "0050793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050793" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060484", "name": "EAST syndrome", "description": "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0060484", "evidence": [ { "id": "0060484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060484" } ], "weight": 0.0 }, { "disease_id": "DOID:1029", "name": "familial periodic paralysis", "description": "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.", "url": "https://disease-ontology.org/term/DOID:1029", "evidence": [ { "id": "1029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1029" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane repolarization during action potential", "id": "GO:0086011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086011", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "regulation of skeletal muscle contraction via regulation of action potential", "id": "GO:0014861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014861", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "magnesium ion transport", "id": "GO:0015693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015693", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "membrane repolarization during cardiac muscle cell action potential", "id": "GO:0086013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086013", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential involved in contraction", "id": "GO:0086002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086002", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "relaxation of skeletal muscle", "id": "GO:0090076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090076", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential", "id": "GO:0086001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086001", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" } ], "molecular_function": [ { "name": "voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization", "id": "GO:0086008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086008", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" }, { "name": "inward rectifier potassium channel activity", "id": "GO:0005242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005242", "evidence": [ { "database": "UniProtKB", "id": "P35561", "url": "https://www.uniprot.org/uniprotkb/P35561" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P35561-1" }, { "uniprot_canonical_ac": "Q9CQ20-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 182, "chemical_mass": 20356.0, "gene_names": "Mid1ip1;3110038L01Rik;Mid1ip1;Mig12;S14R", "protein_name": "Mid1-interacting protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "positive regulation of fatty acid biosynthetic process", "id": "GO:0045723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045723", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "regulation of lipid biosynthetic process", "id": "GO:0046890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046890", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "positive regulation of ligase activity", "id": "GO:0051351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051351", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQ20-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQ20", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQ20" } ] } ] }, { "uniprot_canonical_ac": "Q9CQ20-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" }, { "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": "Q9CQ20", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQ20" } ] } ] }, { "uniprot_canonical_ac": "Q9CQ20-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ20", "url": "https://www.uniprot.org/uniprotkb/Q9CQ20" } ] } ] } ], "record_id": "Q9CQ20-1" }, { "uniprot_canonical_ac": "Q924X6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 996, "chemical_mass": 109818.0, "gene_names": "Lrp8;4932703M08Rik;ApoER2;Apoer2;Lr8b;Lrp8", "protein_name": "Low-density lipoprotein receptor-related protein 8", "disease": [ { "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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "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": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "reelin-mediated signaling pathway", "id": "GO:0038026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038026", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "ammon gyrus development", "id": "GO:0021541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021541", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" } ], "molecular_function": [ { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor activity", "id": "GO:0030229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030229", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" }, { "name": "reelin receptor activity", "id": "GO:0038025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038025", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Asn170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DCEGGADEAGCPTLCAPHEFQCSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 170, "start_aa": "Asn", "end_pos": 170, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn170", "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" } ] }, { "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": 170, "start_aa": "Asn", "end_pos": 170, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn170", "evidence": [ { "id": "Q924X6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924X6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Asn551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 551, "start_aa": "Asn", "end_pos": 551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn551", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2487", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2487" } ] }, { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HIYWTDSGNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 551, "start_aa": "Asn", "end_pos": 551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn551", "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" } ] }, { "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": 551, "start_aa": "Asn", "end_pos": 551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn551", "evidence": [ { "id": "Q924X6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924X6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Asn805", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 805, "start_aa": "Asn", "end_pos": 805, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn805", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2487", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2487" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "APGTTIHDPTYQNHSTETPSQTAAAPHSVNVPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 805, "start_aa": "Asn", "end_pos": 805, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn805", "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" } ] }, { "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": 805, "start_aa": "Asn", "end_pos": 805, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn805", "evidence": [ { "id": "Q924X6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924X6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Thr833", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 833, "start_aa": "Thr", "end_pos": 833, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr833", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Asn840", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "evidence": [ { "id": "Q924X6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924X6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asp107", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "4", "chr_pos": "107712803", "evidence": [ { "id": "rs213514492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213514492" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Glu102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Same affinity for RAP. Same affinity for Reelin.", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" }, { "database": "PubMed", "id": "12899622", "url": "https://glygen.org/publication/PubMed/12899622" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Glu145", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Same affinity for RAP. Lower affinity for Reelin.", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" }, { "database": "PubMed", "id": "12899622", "url": "https://glygen.org/publication/PubMed/12899622" } ] } ] }, { "uniprot_canonical_ac": "Q924X6-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asp61", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Lower affinity for RAP. Abolishes binding to Reelin.", "evidence": [ { "database": "UniProtKB", "id": "Q924X6", "url": "https://www.uniprot.org/uniprotkb/Q924X6" }, { "database": "PubMed", "id": "12899622", "url": "https://glygen.org/publication/PubMed/12899622" } ] } ] } ], "record_id": "Q924X6-1" }, { "uniprot_canonical_ac": "Q9JLN9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2549, "chemical_mass": 288789.0, "gene_names": "Mtor;2610315D21Rik;FRAP2;FRAP;Frap1;Frap;Mtor;RAFT1;RAPT1;flat", "protein_name": "Serine/threonine-protein kinase mTOR", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "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: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8411", "name": "kidney angiomyolipoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8411", "evidence": [ { "id": "8411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8411" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "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": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "voluntary musculoskeletal movement", "id": "GO:0050882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050882", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of locomotor rhythm", "id": "GO:1904059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904059", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cardiac cell development", "id": "GO:0055006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055006", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of response to food", "id": "GO:0032095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032095", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of eating behavior", "id": "GO:1904000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904000", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of membrane permeability", "id": "GO:0090559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090559", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "T-helper 1 cell lineage commitment", "id": "GO:0002296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002296", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of carbohydrate metabolic process", "id": "GO:0006109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006109", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "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": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "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": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "maternal process involved in female pregnancy", "id": "GO:0060135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060135", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070885", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of glycogen biosynthetic process", "id": "GO:0005979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005979", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000059", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of brown fat cell differentiation", "id": "GO:0090335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090335", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901838", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of fatty acid beta-oxidation", "id": "GO:0031998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031998", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of neuron maturation", "id": "GO:0014042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014042", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of lysosome organization", "id": "GO:1905672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905672", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to leucine starvation", "id": "GO:1990253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990253", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of muscle atrophy", "id": "GO:0014736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014736", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of carbohydrate utilization", "id": "GO:0043610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043610", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to L-leucine", "id": "GO:0071233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071233", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of wound healing, spreading of epidermal cells", "id": "GO:1903691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903691", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of cholangiocyte proliferation", "id": "GO:1904056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904056", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of cholangiocyte apoptotic process", "id": "GO:1904193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904193", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of granulosa cell proliferation", "id": "GO:1904197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904197", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle hypertrophy", "id": "GO:1904206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904206", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of iodide transmembrane transport", "id": "GO:1904213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904213", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell apoptotic process", "id": "GO:1904037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904037", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of lysosome organization", "id": "GO:1905671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905671", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "'de novo' pyrimidine nucleobase biosynthetic process", "id": "GO:0006207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006207", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "heart valve morphogenesis", "id": "GO:0003179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003179", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "regulation of translation at synapse, modulating synaptic transmission", "id": "GO:0099547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099547", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "negative regulation of TORC2 signaling", "id": "GO:1903940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903940", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of pentose-phosphate shunt", "id": "GO:1905857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905857", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "positive regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process", "id": "GO:0062027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062027", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" } ], "cellular_component": [ { "name": "serine/threonine protein kinase complex", "id": "GO:1902554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902554", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TORC1 complex", "id": "GO:0031931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031931", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TORC2 complex", "id": "GO:0031932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031932", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase III type 1 promoter sequence-specific DNA binding", "id": "GO:0001002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001002", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "RNA polymerase III type 2 promoter sequence-specific DNA binding", "id": "GO:0001003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001003", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "inositol hexakisphosphate binding", "id": "GO:0000822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000822", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "TFIIIC-class transcription factor complex binding", "id": "GO:0001156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001156", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "RNA polymerase III type 3 promoter sequence-specific DNA binding", "id": "GO:0001006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001006", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GGILAIASLIGVEGGNSTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "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": "Q9JLN9-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Thr1409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1409, "start_aa": "Thr", "end_pos": 1409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1409", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "1861", "end_pos": "1861", "site_lbl": "Thr1861", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1861, "start_aa": "Thr", "end_pos": 1861, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1861", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Thr1162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "1261", "end_pos": "1261", "site_lbl": "Ser1261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "PubMed", "id": "19487463", "url": "https://glygen.org/publication/PubMed/19487463" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2159", "end_pos": "2159", "site_lbl": "Ser2159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" }, { "database": "PubMed", "id": "34245780", "url": "https://glygen.org/publication/PubMed/34245780" }, { "database": "PubMed", "id": "29150432", "url": "https://glygen.org/publication/PubMed/29150432" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Knockin macrophages display reduced mTORC1 activity. Knockin mice show decreased mTORC2 activity and ability to phosphorylate and activate AKT1.", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "PubMed", "id": "29150432", "url": "https://glygen.org/publication/PubMed/29150432" }, { "database": "PubMed", "id": "34245780", "url": "https://glygen.org/publication/PubMed/34245780" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2164", "end_pos": "2164", "site_lbl": "Thr2164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2173", "end_pos": "2173", "site_lbl": "Thr2173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2446", "end_pos": "2446", "site_lbl": "Thr2446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" }, { "database": "PubMed", "id": "26314207", "url": "https://glygen.org/publication/PubMed/26314207" }, { "database": "PubMed", "id": "28638048", "url": "https://glygen.org/publication/PubMed/28638048" }, { "database": "PubMed", "id": "29854093", "url": "https://glygen.org/publication/PubMed/29854093" }, { "database": "PubMed", "id": "31998287", "url": "https://glygen.org/publication/PubMed/31998287" }, { "database": "PubMed", "id": "32207633", "url": "https://glygen.org/publication/PubMed/32207633" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2448", "end_pos": "2448", "site_lbl": "Ser2448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "PRO", "id": "Q9JLN9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9JLN9" }, { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" }, { "database": "PubMed", "id": "10567225", "url": "https://glygen.org/publication/PubMed/10567225" }, { "database": "PubMed", "id": "16086373", "url": "https://glygen.org/publication/PubMed/16086373" }, { "database": "PubMed", "id": "17978888", "url": "https://glygen.org/publication/PubMed/17978888" }, { "database": "PubMed", "id": "18767117", "url": "https://glygen.org/publication/PubMed/18767117" }, { "database": "PubMed", "id": "19291319", "url": "https://glygen.org/publication/PubMed/19291319" }, { "database": "PubMed", "id": "21927580", "url": "https://glygen.org/publication/PubMed/21927580" }, { "database": "PubMed", "id": "21949739", "url": "https://glygen.org/publication/PubMed/21949739" }, { "database": "PubMed", "id": "22359505", "url": "https://glygen.org/publication/PubMed/22359505" }, { "database": "PubMed", "id": "23071621", "url": "https://glygen.org/publication/PubMed/23071621" }, { "database": "PubMed", "id": "23342114", "url": "https://glygen.org/publication/PubMed/23342114" }, { "database": "PubMed", "id": "23409704", "url": "https://glygen.org/publication/PubMed/23409704" }, { "database": "PubMed", "id": "23440873", "url": "https://glygen.org/publication/PubMed/23440873" }, { "database": "PubMed", "id": "24062605", "url": "https://glygen.org/publication/PubMed/24062605" }, { "database": "PubMed", "id": "24280377", "url": "https://glygen.org/publication/PubMed/24280377" }, { "database": "PubMed", "id": "24391749", "url": "https://glygen.org/publication/PubMed/24391749" }, { "database": "PubMed", "id": "24647338", "url": "https://glygen.org/publication/PubMed/24647338" }, { "database": "PubMed", "id": "24682776", "url": "https://glygen.org/publication/PubMed/24682776" }, { "database": "PubMed", "id": "24809512", "url": "https://glygen.org/publication/PubMed/24809512" }, { "database": "PubMed", "id": "24967341", "url": "https://glygen.org/publication/PubMed/24967341" }, { "database": "PubMed", "id": "25280966", "url": "https://glygen.org/publication/PubMed/25280966" }, { "database": "PubMed", "id": "25439029", "url": "https://glygen.org/publication/PubMed/25439029" }, { "database": "PubMed", "id": "25716553", "url": "https://glygen.org/publication/PubMed/25716553" }, { "database": "PubMed", "id": "25991723", "url": "https://glygen.org/publication/PubMed/25991723" }, { "database": "PubMed", "id": "26222260", "url": "https://glygen.org/publication/PubMed/26222260" }, { "database": "PubMed", "id": "26267903", "url": "https://glygen.org/publication/PubMed/26267903" }, { "database": "PubMed", "id": "26299806", "url": "https://glygen.org/publication/PubMed/26299806" }, { "database": "PubMed", "id": "26312014", "url": "https://glygen.org/publication/PubMed/26312014" }, { "database": "PubMed", "id": "26597054", "url": "https://glygen.org/publication/PubMed/26597054" }, { "database": "PubMed", "id": "26728896", "url": "https://glygen.org/publication/PubMed/26728896" }, { "database": "PubMed", "id": "26745759", "url": "https://glygen.org/publication/PubMed/26745759" }, { "database": "PubMed", "id": "26858121", "url": "https://glygen.org/publication/PubMed/26858121" }, { "database": "PubMed", "id": "27257474", "url": "https://glygen.org/publication/PubMed/27257474" }, { "database": "PubMed", "id": "27599409", "url": "https://glygen.org/publication/PubMed/27599409" }, { "database": "PubMed", "id": "27781091", "url": "https://glygen.org/publication/PubMed/27781091" }, { "database": "PubMed", "id": "27930667", "url": "https://glygen.org/publication/PubMed/27930667" }, { "database": "PubMed", "id": "28151473", "url": "https://glygen.org/publication/PubMed/28151473" }, { "database": "PubMed", "id": "28333151", "url": "https://glygen.org/publication/PubMed/28333151" }, { "database": "PubMed", "id": "28364027", "url": "https://glygen.org/publication/PubMed/28364027" }, { "database": "PubMed", "id": "28464882", "url": "https://glygen.org/publication/PubMed/28464882" }, { "database": "PubMed", "id": "28467426", "url": "https://glygen.org/publication/PubMed/28467426" }, { "database": "PubMed", "id": "28638048", "url": "https://glygen.org/publication/PubMed/28638048" }, { "database": "PubMed", "id": "28718972", "url": "https://glygen.org/publication/PubMed/28718972" }, { "database": "PubMed", "id": "28810557", "url": "https://glygen.org/publication/PubMed/28810557" }, { "database": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" }, { "database": "PubMed", "id": "28980850", "url": "https://glygen.org/publication/PubMed/28980850" }, { "database": "PubMed", "id": "29554968", "url": "https://glygen.org/publication/PubMed/29554968" }, { "database": "PubMed", "id": "29574227", "url": "https://glygen.org/publication/PubMed/29574227" }, { "database": "PubMed", "id": "29623927", "url": "https://glygen.org/publication/PubMed/29623927" }, { "database": "PubMed", "id": "29720580", "url": "https://glygen.org/publication/PubMed/29720580" }, { "database": "PubMed", "id": "29723221", "url": "https://glygen.org/publication/PubMed/29723221" }, { "database": "PubMed", "id": "29734780", "url": "https://glygen.org/publication/PubMed/29734780" }, { "database": "PubMed", "id": "29854093", "url": "https://glygen.org/publication/PubMed/29854093" }, { "database": "PubMed", "id": "30014636", "url": "https://glygen.org/publication/PubMed/30014636" }, { "database": "PubMed", "id": "30409162", "url": "https://glygen.org/publication/PubMed/30409162" }, { "database": "PubMed", "id": "30410062", "url": "https://glygen.org/publication/PubMed/30410062" }, { "database": "PubMed", "id": "30410750", "url": "https://glygen.org/publication/PubMed/30410750" }, { "database": "PubMed", "id": "30569110", "url": "https://glygen.org/publication/PubMed/30569110" }, { "database": "PubMed", "id": "30622053", "url": "https://glygen.org/publication/PubMed/30622053" }, { "database": "PubMed", "id": "30696333", "url": "https://glygen.org/publication/PubMed/30696333" }, { "database": "PubMed", "id": "30787203", "url": "https://glygen.org/publication/PubMed/30787203" }, { "database": "PubMed", "id": "30876754", "url": "https://glygen.org/publication/PubMed/30876754" }, { "database": "PubMed", "id": "30961637", "url": "https://glygen.org/publication/PubMed/30961637" }, { "database": "PubMed", "id": "30973211", "url": "https://glygen.org/publication/PubMed/30973211" }, { "database": "PubMed", "id": "31138988", "url": "https://glygen.org/publication/PubMed/31138988" }, { "database": "PubMed", "id": "31159888", "url": "https://glygen.org/publication/PubMed/31159888" }, { "database": "PubMed", "id": "31207499", "url": "https://glygen.org/publication/PubMed/31207499" }, { "database": "PubMed", "id": "31519159", "url": "https://glygen.org/publication/PubMed/31519159" }, { "database": "PubMed", "id": "31726709", "url": "https://glygen.org/publication/PubMed/31726709" }, { "database": "PubMed", "id": "31998287", "url": "https://glygen.org/publication/PubMed/31998287" }, { "database": "PubMed", "id": "32107468", "url": "https://glygen.org/publication/PubMed/32107468" }, { "database": "PubMed", "id": "32207633", "url": "https://glygen.org/publication/PubMed/32207633" }, { "database": "PubMed", "id": "32231246", "url": "https://glygen.org/publication/PubMed/32231246" }, { "database": "PubMed", "id": "32316601", "url": "https://glygen.org/publication/PubMed/32316601" }, { "database": "PubMed", "id": "32399718", "url": "https://glygen.org/publication/PubMed/32399718" }, { "database": "PubMed", "id": "32498424", "url": "https://glygen.org/publication/PubMed/32498424" }, { "database": "PubMed", "id": "32716920", "url": "https://glygen.org/publication/PubMed/32716920" }, { "database": "PubMed", "id": "32751882", "url": "https://glygen.org/publication/PubMed/32751882" }, { "database": "PubMed", "id": "33071755", "url": "https://glygen.org/publication/PubMed/33071755" }, { "database": "PubMed", "id": "33184378", "url": "https://glygen.org/publication/PubMed/33184378" }, { "database": "PubMed", "id": "33637094", "url": "https://glygen.org/publication/PubMed/33637094" }, { "database": "PubMed", "id": "33658993", "url": "https://glygen.org/publication/PubMed/33658993" }, { "database": "PubMed", "id": "33741019", "url": "https://glygen.org/publication/PubMed/33741019" }, { "database": "PubMed", "id": "33918604", "url": "https://glygen.org/publication/PubMed/33918604" }, { "database": "PubMed", "id": "34217376", "url": "https://glygen.org/publication/PubMed/34217376" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" }, { "database": "PubMed", "id": "24187137", "url": "https://glygen.org/publication/PubMed/24187137" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2478", "end_pos": "2478", "site_lbl": "Ser2478", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "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": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2481", "end_pos": "2481", "site_lbl": "Ser2481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9JLN9-1", "kinase_gene_name": "Mtor", "evidence": [ { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" }, { "database": "PubMed", "id": "20022946", "url": "https://glygen.org/publication/PubMed/20022946" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "IntAct", "id": "Q9JLN9", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9JLN9*" }, { "database": "iPTMnet", "id": "Q9JLN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLN9" }, { "database": "PubMed", "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808" }, { "database": "PubMed", "id": "17978888", "url": "https://glygen.org/publication/PubMed/17978888" }, { "database": "PubMed", "id": "23440873", "url": "https://glygen.org/publication/PubMed/23440873" }, { "database": "PubMed", "id": "24647338", "url": "https://glygen.org/publication/PubMed/24647338" }, { "database": "PubMed", "id": "25991723", "url": "https://glygen.org/publication/PubMed/25991723" }, { "database": "PubMed", "id": "26299806", "url": "https://glygen.org/publication/PubMed/26299806" }, { "database": "PubMed", "id": "26314207", "url": "https://glygen.org/publication/PubMed/26314207" }, { "database": "PubMed", "id": "26795633", "url": "https://glygen.org/publication/PubMed/26795633" }, { "database": "PubMed", "id": "27781091", "url": "https://glygen.org/publication/PubMed/27781091" }, { "database": "PubMed", "id": "28638048", "url": "https://glygen.org/publication/PubMed/28638048" }, { "database": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" }, { "database": "PubMed", "id": "29554968", "url": "https://glygen.org/publication/PubMed/29554968" }, { "database": "PubMed", "id": "29720580", "url": "https://glygen.org/publication/PubMed/29720580" }, { "database": "PubMed", "id": "29734780", "url": "https://glygen.org/publication/PubMed/29734780" }, { "database": "PubMed", "id": "29854093", "url": "https://glygen.org/publication/PubMed/29854093" }, { "database": "PubMed", "id": "29858083", "url": "https://glygen.org/publication/PubMed/29858083" }, { "database": "PubMed", "id": "30410750", "url": "https://glygen.org/publication/PubMed/30410750" }, { "database": "PubMed", "id": "30622053", "url": "https://glygen.org/publication/PubMed/30622053" }, { "database": "PubMed", "id": "31207499", "url": "https://glygen.org/publication/PubMed/31207499" }, { "database": "PubMed", "id": "31213901", "url": "https://glygen.org/publication/PubMed/31213901" }, { "database": "PubMed", "id": "31373126", "url": "https://glygen.org/publication/PubMed/31373126" }, { "database": "PubMed", "id": "31519159", "url": "https://glygen.org/publication/PubMed/31519159" }, { "database": "PubMed", "id": "31726709", "url": "https://glygen.org/publication/PubMed/31726709" }, { "database": "PubMed", "id": "31998287", "url": "https://glygen.org/publication/PubMed/31998287" }, { "database": "PubMed", "id": "32207633", "url": "https://glygen.org/publication/PubMed/32207633" }, { "database": "PubMed", "id": "32716920", "url": "https://glygen.org/publication/PubMed/32716920" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ser567", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "1656", "end_pos": "1656", "site_lbl": "Tyr1656", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YAS->NAS).", "chr_id": "4", "chr_pos": "148615032", "evidence": [ { "id": "rs3388727147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388727147" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "925", "end_pos": "925", "site_lbl": "Asp925", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "4", "chr_pos": "148555152", "evidence": [ { "id": "rs3388730616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730616" } ] } ] }, { "uniprot_canonical_ac": "Q9JLN9-1", "start_pos": "2035", "end_pos": "2035", "site_lbl": "Ser2035", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Abolishes interaction with the FKBP1A-rapamycin complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JLN9", "url": "https://www.uniprot.org/uniprotkb/Q9JLN9" }, { "database": "PubMed", "id": "7809080", "url": "https://glygen.org/publication/PubMed/7809080" } ] } ] } ], "record_id": "Q9JLN9-1" }, { "uniprot_canonical_ac": "P22893-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 319, "chemical_mass": 33613.0, "gene_names": "Zfp36;Gos24;Nup475;TIS11D;TISII;Tis11a;Tis11;Ttp;Zfp-36;Zfp36", "protein_name": "mRNA decay activator protein ZFP36", "disease": [ { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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 } ], "biological_process": [ { "name": "negative regulation of viral transcription", "id": "GO:0032897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032897", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "RNA destabilization", "id": "GO:0050779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050779", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "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": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-independent decay", "id": "GO:0031086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031086", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "regulation of keratinocyte apoptotic process", "id": "GO:1902172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902172", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of intracellular mRNA localization", "id": "GO:1904582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904582", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of deadenylation-independent decapping of nuclear-transcribed mRNA", "id": "GO:1901835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901835", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of polynucleotide adenylyltransferase activity", "id": "GO:1904246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904246", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "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": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "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": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by inhibition of translation", "id": "GO:0035278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035278", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cellular response to granulocyte macrophage colony-stimulating factor stimulus", "id": "GO:0097011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097011", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "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": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "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": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of miRNA-mediated gene silencing", "id": "GO:2000637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000637", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "positive regulation of mRNA catabolic process", "id": "GO:0061014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061014", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of erythrocyte differentiation", "id": "GO:0045647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045647", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "regulation of keratinocyte proliferation", "id": "GO:0010837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010837", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:0000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000288", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "negative regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905869", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA regulatory element binding translation repressor activity", "id": "GO:0000900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000900", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "RNA polymerase binding", "id": "GO:0070063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070063", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "protein-RNA sequence-specific adaptor activity", "id": "GO:0160134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160134", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P22893-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "PubMed", "id": "23468959", "url": "https://glygen.org/publication/PubMed/23468959" }, { "database": "PubMed", "id": "26002976", "url": "https://glygen.org/publication/PubMed/26002976" }, { "database": "PubMed", "id": "15014438", "url": "https://glygen.org/publication/PubMed/15014438" }, { "database": "PubMed", "id": "20595389", "url": "https://glygen.org/publication/PubMed/20595389" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces both interaction with 14-3-3 proteins and YWHAB-induced cytoplasmic localization. Impairs phosphorylation by MAPKAPK2, decreases its stability and cytoplasmic localization, increases interaction with PPP2CA, inhibits binding to 14-3-3 proteins, but does not impair binding to ARE-containing transcripts, recruitment of mRNA decay factors and ZFP36-mediated deadenylation and decay of ARE-containing transcripts; when associated with A-52.", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "15014438", "url": "https://glygen.org/publication/PubMed/15014438" }, { "database": "PubMed", "id": "20595389", "url": "https://glygen.org/publication/PubMed/20595389" }, { "database": "PubMed", "id": "21078877", "url": "https://glygen.org/publication/PubMed/21078877" }, { "database": "PubMed", "id": "11886850", "url": "https://glygen.org/publication/PubMed/11886850" }, { "database": "PubMed", "id": "17170118", "url": "https://glygen.org/publication/PubMed/17170118" }, { "database": "PubMed", "id": "16508014", "url": "https://glygen.org/publication/PubMed/16508014" }, { "database": "PubMed", "id": "16508015", "url": "https://glygen.org/publication/PubMed/16508015" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P63085-1", "kinase_gene_name": "Mapk1", "evidence": [ { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" }, { "database": "PubMed", "id": "7768935", "url": "https://glygen.org/publication/PubMed/7768935" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" }, { "database": "PubMed", "id": "7768935", "url": "https://glygen.org/publication/PubMed/7768935" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" }, { "database": "PubMed", "id": "34090459", "url": "https://glygen.org/publication/PubMed/34090459" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "PubMed", "id": "23468959", "url": "https://glygen.org/publication/PubMed/23468959" }, { "database": "PubMed", "id": "26002976", "url": "https://glygen.org/publication/PubMed/26002976" }, { "database": "PubMed", "id": "15014438", "url": "https://glygen.org/publication/PubMed/15014438" }, { "database": "PubMed", "id": "20595389", "url": "https://glygen.org/publication/PubMed/20595389" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs phosphorylation by MAPKAPK2, decreases its stability and cytoplasmic localization, increases interaction with PPP2CA, inhibits binding to 14-3-3 proteins, but does not impair binding to ARE-containing transcripts, recruitment of mRNA decay factors and ZFP36-mediated deadenylation and decay of ARE-containing transcripts; when associated with A-178.", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "15014438", "url": "https://glygen.org/publication/PubMed/15014438" }, { "database": "PubMed", "id": "20595389", "url": "https://glygen.org/publication/PubMed/20595389" }, { "database": "PubMed", "id": "21078877", "url": "https://glygen.org/publication/PubMed/21078877" }, { "database": "PubMed", "id": "17170118", "url": "https://glygen.org/publication/PubMed/17170118" }, { "database": "PubMed", "id": "16508014", "url": "https://glygen.org/publication/PubMed/16508014" }, { "database": "PubMed", "id": "16508015", "url": "https://glygen.org/publication/PubMed/16508015" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "14688255", "url": "https://glygen.org/publication/PubMed/14688255" }, { "database": "iPTMnet", "id": "P22893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22893" } ] } ] }, { "uniprot_canonical_ac": "P22893-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Pro303", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Stimulates interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "P22893", "url": "https://www.uniprot.org/uniprotkb/P22893" }, { "database": "PubMed", "id": "20221403", "url": "https://glygen.org/publication/PubMed/20221403" } ] } ] } ], "record_id": "P22893-1" }, { "uniprot_canonical_ac": "P70280-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 220, "chemical_mass": 24967.0, "gene_names": "Vamp7;Sybl1;TI-VAMP;VAMP-7;Vamp7", "protein_name": "Vesicle-associated membrane protein 7", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "pseudopodium", "id": "GO:0031143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031143", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "neutrophil degranulation", "id": "GO:0043312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043312", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "triglyceride transport", "id": "GO:0034197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034197", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "calcium-ion regulated exocytosis", "id": "GO:0017156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017156", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "positive regulation of histamine secretion by mast cell", "id": "GO:1903595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903595", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "regulation of protein targeting to vacuolar membrane", "id": "GO:1900483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900483", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "vesicle fusion with Golgi apparatus", "id": "GO:0048280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048280", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "eosinophil degranulation", "id": "GO:0043308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043308", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "natural killer cell degranulation", "id": "GO:0043320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043320", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" } ], "molecular_function": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70280-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" } ] } ] }, { "uniprot_canonical_ac": "P70280-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70280", "url": "https://www.uniprot.org/uniprotkb/P70280" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P70280", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70280" } ] } ] } ], "record_id": "P70280-1" }, { "uniprot_canonical_ac": "Q8K3E5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1047, "chemical_mass": 119650.0, "gene_names": "Ahi1", "protein_name": "Jouberin", "disease": [ { "disease_id": "DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", "url": "https://disease-ontology.org/term/DOID:0050777", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0110998", "name": "Joubert syndrome 3", "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.", "url": "https://disease-ontology.org/term/DOID:0110998", "evidence": [ { "id": "0110998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110998" } ], "weight": 0.0 }, { "disease_id": "DOID:0110999", "name": "Joubert syndrome 4", "description": "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.", "url": "https://disease-ontology.org/term/DOID:0110999", "evidence": [ { "id": "0110999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110999" } ], "weight": 0.0 }, { "disease_id": "DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).", "url": "https://disease-ontology.org/term/DOID:12712", "evidence": [ { "id": "12712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12712" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "photoreceptor distal connecting cilium", "id": "GO:0120206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120206", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "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": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cell junction assembly", "id": "GO:0034329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034329", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "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": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "retinal rod cell development", "id": "GO:0046548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046548", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "vesicle targeting", "id": "GO:0006903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006903", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "retinal cone cell development", "id": "GO:0046549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046549", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3E5-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asn310", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36921VW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNSEVQNQECGFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 310, "start_aa": "Asn", "end_pos": 310, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn310", "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": "Q8K3E5-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Ser853", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ] } ] }, { "uniprot_canonical_ac": "Q8K3E5-1", "start_pos": "974", "end_pos": "974", "site_lbl": "Ser974", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3E5", "url": "https://www.uniprot.org/uniprotkb/Q8K3E5" } ] } ] }, { "uniprot_canonical_ac": "Q8K3E5-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Asp232", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "10", "chr_pos": "20839784", "evidence": [ { "id": "rs3389033861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389033861" } ] } ] }, { "uniprot_canonical_ac": "Q8K3E5-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asp27", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "10", "chr_pos": "20835747", "evidence": [ { "id": "rs3389094026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389094026" } ] } ] } ], "record_id": "Q8K3E5-1" }, { "uniprot_canonical_ac": "P46656-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 20123.0, "gene_names": "Fdx1;Fdx1", "protein_name": "Adrenodoxin, mitochondrial", "disease": [ { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "mitochondrial crista", "id": "GO:0030061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030061", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" } ], "biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "positive regulation of oxidoreductase activity", "id": "GO:0051353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051353", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "hormone biosynthetic process", "id": "GO:0042446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042446", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "regulation of NADP metabolic process", "id": "GO:1902031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902031", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "P450-containing electron transport chain", "id": "GO:0140647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140647", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46656-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ser181", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" } ] } ] }, { "uniprot_canonical_ac": "P46656-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46656", "url": "https://www.uniprot.org/uniprotkb/P46656" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46656", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46656" } ] } ] } ], "record_id": "P46656-1" }, { "uniprot_canonical_ac": "Q8CCJ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 672, "chemical_mass": 69933.0, "gene_names": "Amer2;2600011E07Rik;Amer2;Fam123a", "protein_name": "APC membrane recruitment protein 2", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] }, { "uniprot_canonical_ac": "Q8CCJ4-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCJ4", "url": "https://www.uniprot.org/uniprotkb/Q8CCJ4" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q8CCJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCJ4" } ] } ] } ], "record_id": "Q8CCJ4-1" }, { "uniprot_canonical_ac": "P18654-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 740, "chemical_mass": 83694.0, "gene_names": "Rps6ka3;MAPKAPK-1b;MPK-9;Mapkapk1b;Rps6ka-rs1;Rps6ka3;Rsk2;S6K-alpha3;p90RSK3;pp90RSK2", "protein_name": "Ribosomal protein S6 kinase alpha-3", "disease": [ { "disease_id": "DOID:0112019", "name": "non-syndromic X-linked intellectual disability 19", "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.", "url": "https://disease-ontology.org/term/DOID:0112019", "evidence": [ { "id": "0112019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112019" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:3783", "name": "Coffin-Lowry syndrome", "description": "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:3783", "evidence": [ { "id": "3783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3783" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ribosomal protein S6 kinase activity", "id": "GO:0004711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004711", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "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": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18654-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" }, { "database": "PubMed", "id": "26083344", "url": "https://glygen.org/publication/PubMed/26083344" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Loss of phosphorylation and activation by PDPK1.", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Thr365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P18654-1", "kinase_gene_name": "Rps6ka3", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" }, { "database": "PubMed", "id": "27732676", "url": "https://glygen.org/publication/PubMed/27732676" }, { "database": "PubMed", "id": "17906627", "url": "https://glygen.org/publication/PubMed/17906627" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation by PDPK1; loss of activation by PDPK1 and EGF.", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "10856237", "url": "https://glygen.org/publication/PubMed/10856237" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Loss of interaction with PDPK1 and phosphorylation at S-227.", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "10856237", "url": "https://glygen.org/publication/PubMed/10856237" }, { "database": "PubMed", "id": "10480933", "url": "https://glygen.org/publication/PubMed/10480933" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Tyr529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" }, { "database": "PubMed", "id": "25337589", "url": "https://glygen.org/publication/PubMed/25337589" }, { "database": "PubMed", "id": "17785202", "url": "https://glygen.org/publication/PubMed/17785202" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Attenuates activation by MAPK1/ERK1 and MAPK3/ERK2.", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "17785202", "url": "https://glygen.org/publication/PubMed/17785202" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Ser556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Thr577", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" }, { "database": "PubMed", "id": "26083344", "url": "https://glygen.org/publication/PubMed/26083344" } ] } ] }, { "uniprot_canonical_ac": "P18654-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Ser715", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18654", "url": "https://www.uniprot.org/uniprotkb/P18654" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P18654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18654" } ] } ] } ], "record_id": "P18654-1" }, { "uniprot_canonical_ac": "O54967-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1055, "chemical_mass": 116975.0, "gene_names": "Tnk2;Ack-1;Ack1;Ack;Cdgip;Pyk1;Tnk2", "protein_name": "Activated CDC42 kinase 1", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "WW domain binding", "id": "GO:0050699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050699", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "Grb2-EGFR complex", "id": "GO:0070436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070436", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "cytoophidium", "id": "GO:0097268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097268", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54967-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Thr104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Thr596", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 596, "start_aa": "Thr", "end_pos": 596, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr596", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Thr745", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 745, "start_aa": "Thr", "end_pos": 745, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr745", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Thr829", "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": 829, "start_aa": "Thr", "end_pos": 829, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr829", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O54967", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54967" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O54967", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54967" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Thr832", "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": 832, "start_aa": "Thr", "end_pos": 832, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr832", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O54967", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54967" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O54967", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54967" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Thr833", "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": 833, "start_aa": "Thr", "end_pos": 833, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr833", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O54967", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54967" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O54967", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54967" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Ser835", "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": 835, "start_aa": "Ser", "end_pos": 835, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser835", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O54967", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Thr914", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 914, "start_aa": "Thr", "end_pos": 914, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr914", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Thr113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54967", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Tyr284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "iPTMnet", "id": "O54967", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54967" }, { "database": "PubMed", "id": "21309750", "url": "https://glygen.org/publication/PubMed/21309750" }, { "database": "PubMed", "id": "29386546", "url": "https://glygen.org/publication/PubMed/29386546" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Tyr533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "21169560", "url": "https://glygen.org/publication/PubMed/21169560" }, { "database": "iPTMnet", "id": "O54967", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Tyr842", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Tyr874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Tyr887", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "896", "end_pos": "896", "site_lbl": "Ser896", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Lys158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "16777958", "url": "https://glygen.org/publication/PubMed/16777958" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Trp424", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "K", "comment": "Increase in autophosphorylation activity.", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "16777958", "url": "https://glygen.org/publication/PubMed/16777958" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "464", "end_pos": "464", "site_lbl": "His464", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Loss of CDC42-binding and impairment of autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "16777958", "url": "https://glygen.org/publication/PubMed/16777958" } ] } ] }, { "uniprot_canonical_ac": "O54967-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Tyr650", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with NEDD4 and drastic reduction in its ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O54967", "url": "https://www.uniprot.org/uniprotkb/O54967" }, { "database": "PubMed", "id": "17182860", "url": "https://glygen.org/publication/PubMed/17182860" } ] } ] } ], "record_id": "O54967-1" }, { "uniprot_canonical_ac": "P62484-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 446, "chemical_mass": 49387.0, "gene_names": "Abi2;8430425M24Rik;Abi2;AblBP3;ArgBP1;C130078H13", "protein_name": "Abl interactor 2", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "actin-based cell projection", "id": "GO:0098858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098858", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" } ], "biological_process": [ { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "positive regulation of protein tyrosine kinase activity", "id": "GO:0061098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061098", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "positive regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:2000601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000601", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "zonula adherens assembly", "id": "GO:0045186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045186", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "lens fiber cell morphogenesis", "id": "GO:0070309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070309", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "cell projection morphogenesis", "id": "GO:0048858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048858", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62484-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Thr294", "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": 294, "start_aa": "Thr", "end_pos": 294, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr294", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P62484", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P62484" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P62484", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P62484" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62484", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62484" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "60492811", "evidence": [ { "id": "rs3388473231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388473231" } ] } ] }, { "uniprot_canonical_ac": "P62484-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "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": 297, "start_aa": "Thr", "end_pos": 297, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr297", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P62484", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P62484" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P62484", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P62484" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P62484-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ] } ] }, { "uniprot_canonical_ac": "P62484-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" } ] } ] }, { "uniprot_canonical_ac": "P62484-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62484", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62484" } ] } ] }, { "uniprot_canonical_ac": "P62484-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62484", "url": "https://www.uniprot.org/uniprotkb/P62484" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62484", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62484" } ] } ] } ], "record_id": "P62484-1" }, { "uniprot_canonical_ac": "Q8C8B0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 36931.0, "gene_names": "Alx1;Alx1;C130005I02;Cart1", "protein_name": "ALX homeobox protein 1", "disease": [ { "disease_id": "DOID:0081047", "name": "frontonasal dysplasia 3", "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0081047", "evidence": [ { "id": "0081047", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081047" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "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": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "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": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "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": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "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": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C8B0-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ] } ] }, { "uniprot_canonical_ac": "Q8C8B0-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ] } ] }, { "uniprot_canonical_ac": "Q8C8B0-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" } ] } ] }, { "uniprot_canonical_ac": "Q8C8B0-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Lys131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of acetylation. Decreased binding affinity to EP300. Loss of EP300-mediated transcriptional coactivation.", "evidence": [ { "database": "UniProtKB", "id": "Q8C8B0", "url": "https://www.uniprot.org/uniprotkb/Q8C8B0" }, { "database": "PubMed", "id": "12929931", "url": "https://glygen.org/publication/PubMed/12929931" } ] } ] } ], "record_id": "Q8C8B0-1" }, { "uniprot_canonical_ac": "Q80TS3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1537, "chemical_mass": 171080.0, "gene_names": "Adgrl3;5430402I23Rik;Adgrl3;CIRL-3;D130075K09Rik;Gm1379;Kiaa0768;LEC3;Lec3;Lphn3;mKIAA0768", "protein_name": "Adhesion G protein-coupled receptor L3", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "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": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" } ], "biological_process": [ { "name": "excitatory synapse assembly", "id": "GO:1904861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904861", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "locomotion involved in locomotory behavior", "id": "GO:0031987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031987", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "maintenance of postsynaptic specialization structure", "id": "GO:0098880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098880", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "Rho-activating G protein-coupled receptor signaling pathway", "id": "GO:0160221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160221", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" }, { "name": "cell adhesion mediator activity", "id": "GO:0098631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098631", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Asn1000", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1000, "start_aa": "Asn", "end_pos": 1000, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1000", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1166", "end_pos": "1166", "site_lbl": "Asn1166", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1166, "start_aa": "Asn", "end_pos": 1166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1166", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1536", "end_pos": "1536", "site_lbl": "Ser1536", "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": 1536, "start_aa": "Ser", "end_pos": 1536, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1536", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q80TS3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80TS3" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5FTT&bu=0&command=select+.G:161;+center+selection;+zoom+selection" }, "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" }, { "id": "25728924", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25728924" }, { "id": "5AFB", "database": "PDB", "url": "https://www.rcsb.org/sequence/5AFB" }, { "id": "5FTT", "database": "PDB", "url": "https://www.rcsb.org/structure/5FTT" }, { "id": "5FTT", "database": "PDB", "url": "https://www.rcsb.org/structure/5FTT" }, { "id": "5FTT|G|161", "database": "", "url": "" }, { "id": "5FTT|C|161", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Asn532", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 532, "start_aa": "Asn", "end_pos": 532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn532", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Asn617", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 617, "start_aa": "Asn", "end_pos": 617, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn617", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Asn676", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 676, "start_aa": "Asn", "end_pos": 676, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn676", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 676, "start_aa": "Asn", "end_pos": 676, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn676", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G59924QI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLTPGGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 676, "start_aa": "Asn", "end_pos": 676, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn676", "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": "Q80TS3-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Asn827", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G37412TK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VAFVLYNNLGPYLSTENASMKLGTEAMSTNHSVIVNSPVITAAINK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "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" } ] }, { "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": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Asn840", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G59924QI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LGTEAMSTNHSVIVNSPVITAAINK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "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" } ] }, { "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": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Asn885", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 885, "start_aa": "Asn", "end_pos": 885, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn885", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "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": 885, "start_aa": "Asn", "end_pos": 885, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn885", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Asn911", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2419", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ] }, { "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": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "Q80TS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TS3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1254", "end_pos": "1254", "site_lbl": "Ser1254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TS3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TS3" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1522", "end_pos": "1522", "site_lbl": "Ser1522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TS3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TS3" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Thr1535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q80TS3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q80TS3" }, { "database": "iPTMnet", "id": "Q80TS3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TS3" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "221", "end_pos": "221", "site_lbl": "His221", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HQS->NQS).", "chr_id": "5", "chr_pos": "81659893", "evidence": [ { "id": "rs3388753117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753117" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1019", "end_pos": "1019", "site_lbl": "Phe1019", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1023", "end_pos": "1023", "site_lbl": "Phe1023", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1041", "end_pos": "1041", "site_lbl": "Phe1041", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1081", "end_pos": "1081", "site_lbl": "Trp1081", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "F", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1090", "end_pos": "1090", "site_lbl": "Trp1090", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1092", "end_pos": "1092", "site_lbl": "Phe1092", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Gly1155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "G", "sequence_mut": "F", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "G", "sequence_mut": "I", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "G", "sequence_mut": "P", "comment": "Decreased but not abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "G", "sequence_mut": "T", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1158", "end_pos": "1158", "site_lbl": "Trp1158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Leu1162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1176", "end_pos": "1176", "site_lbl": "Phe1176", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "1180", "end_pos": "1180", "site_lbl": "Asn1180", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Pro244", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "N", "comment": "Strongly reduces FLRT2 binding; when associated with T-246.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Arg246", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Strongly reduces FLRT2 binding; when associated with N-244.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Strongly reduces FLRT2 binding; when associated with T-269.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Strongly reduces FLRT2 binding; when associated with N-267.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Arg292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Abolishes interaction with FLRT2; when associated with T-294.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Arg294", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Abolishes interaction with FLRT2; when associated with N-292.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Tyr323", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes FLRT3 binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "26235031", "url": "https://glygen.org/publication/PubMed/26235031" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Arg324", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Abolishes interaction with FLRT2; when associated with T-326.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Gly326", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "T", "comment": "Abolishes interaction with FLRT2; when associated with N-324.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "25728924", "url": "https://glygen.org/publication/PubMed/25728924" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Asp332", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduces FLRT3 binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "26235031", "url": "https://glygen.org/publication/PubMed/26235031" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Arg376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "In 4A mutant; abolished binding to FLRT proteins; when associated with 317-A--A-321.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "30792275", "url": "https://glygen.org/publication/PubMed/30792275" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Thr923", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolished autocatalytic processing, leading to impaired G protein-coupled activity.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36244455", "url": "https://glygen.org/publication/PubMed/36244455" }, { "database": "PubMed", "id": "30792275", "url": "https://glygen.org/publication/PubMed/30792275" } ] }, { "sequence_org": "T", "sequence_mut": "G", "comment": "Abolished autocatalytic processing, leading to impaired G protein-coupled activity.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36244455", "url": "https://glygen.org/publication/PubMed/36244455" }, { "database": "PubMed", "id": "30792275", "url": "https://glygen.org/publication/PubMed/30792275" } ] }, { "sequence_org": "T", "sequence_mut": "Y", "comment": "Does not affect G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "925", "end_pos": "925", "site_lbl": "Phe925", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolished autocatalytic processing, leading to abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36244455", "url": "https://glygen.org/publication/PubMed/36244455" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "F", "sequence_mut": "G", "comment": "Abolished autocatalytic processing, leading to abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36244455", "url": "https://glygen.org/publication/PubMed/36244455" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Ala926", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Does not affect G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "927", "end_pos": "927", "site_lbl": "Val927", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Does not affect G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] }, { "sequence_org": "V", "sequence_mut": "T", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Leu928", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Met929", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Abolished G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "930", "end_pos": "930", "site_lbl": "Ala930", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "", "comment": "Does not affect G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "931", "end_pos": "931", "site_lbl": "His931", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Does not affect G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "945", "end_pos": "945", "site_lbl": "Leu945", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "946", "end_pos": "946", "site_lbl": "Asp946", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "953", "end_pos": "953", "site_lbl": "Ile953", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] }, { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Phe995", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q80TS3", "url": "https://www.uniprot.org/uniprotkb/Q80TS3" }, { "database": "PubMed", "id": "36309016", "url": "https://glygen.org/publication/PubMed/36309016" } ] } ] } ], "record_id": "Q80TS3-1" }, { "uniprot_canonical_ac": "Q8BXK8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 857, "chemical_mass": 94411.0, "gene_names": "Agap1;Agap1;Centg2;Ggap1;Kiaa1099;mKIAA1099", "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "postsynaptic endosome", "id": "GO:0098845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098845", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic structure", "id": "GO:0099159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099159", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Thr285", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 285, "start_aa": "Thr", "end_pos": 285, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr285", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Asn847", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92406TI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNSRNNSSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 847, "start_aa": "Asn", "end_pos": 847, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn847", "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": "Q8BXK8-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Ser663", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BXK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BXK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Thr836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK8", "url": "https://www.uniprot.org/uniprotkb/Q8BXK8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BXK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BXK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Ala805", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "1", "chr_pos": "89816455", "evidence": [ { "id": "rs3388490095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490095" } ] } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Ser843", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "1", "chr_pos": "89816570", "evidence": [ { "id": "rs30344677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30344677" } ] } ] } ], "record_id": "Q8BXK8-1" }, { "uniprot_canonical_ac": "Q9D842-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 499, "chemical_mass": 54968.0, "gene_names": "Aplf;2010301N04Rik;Aplf", "protein_name": "Aprataxin and PNK-like factor", "disease": [], "biological_process": [ { "name": "regulation of epithelial to mesenchymal transition", "id": "GO:0010717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010717", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "regulation of isotype switching", "id": "GO:0045191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045191", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" } ], "molecular_function": [ { "name": "poly-ADP-D-ribose binding", "id": "GO:0072572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072572", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0003906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003906", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "ADP-D-ribose modification-dependent protein binding", "id": "GO:0160002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160002", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "histone chaperone activity", "id": "GO:0140713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140713", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D842-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" } ] } ] }, { "uniprot_canonical_ac": "Q9D842-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D842", "url": "https://www.uniprot.org/uniprotkb/Q9D842" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D842" } ] } ] } ], "record_id": "Q9D842-1" }, { "uniprot_canonical_ac": "Q8VHG2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1126, "chemical_mass": 120915.0, "gene_names": "Amot;Amot;CAG-2;D0Kist1;Kiaa1071;Sii6", "protein_name": "Angiomotin", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "establishment of cell polarity involved in ameboidal cell migration", "id": "GO:0003365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003365", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "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": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic actin cytoskeleton", "id": "GO:1905274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905274", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" } ], "molecular_function": [ { "name": "angiostatin binding", "id": "GO:0043532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043532", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "1041", "end_pos": "1041", "site_lbl": "Thr1041", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1041, "start_aa": "Thr", "end_pos": 1041, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1041", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "1043", "end_pos": "1043", "site_lbl": "Thr1043", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1043, "start_aa": "Thr", "end_pos": 1043, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1043", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Thr1059", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1059, "start_aa": "Thr", "end_pos": 1059, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1059", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "1061", "end_pos": "1061", "site_lbl": "Thr1061", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1061, "start_aa": "Thr", "end_pos": 1061, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1061", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "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": 183, "start_aa": "Ser", "end_pos": 183, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser183", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "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": 196, "start_aa": "Thr", "end_pos": 196, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr196", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "X", "chr_pos": "144263200", "evidence": [ { "id": "rs3389586759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389586759" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "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": 201, "start_aa": "Ser", "end_pos": 201, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser201", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "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": 214, "start_aa": "Ser", "end_pos": 214, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser214", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Thr275", "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": 275, "start_aa": "Thr", "end_pos": 275, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr275", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Asn31", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YGNPSENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "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": "Q8VHG2-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Thr377", "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": 377, "start_aa": "Thr", "end_pos": 377, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr377", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "X", "chr_pos": "144263200", "evidence": [ { "id": "rs3389586759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389586759" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Asn695", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49755GI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DTTVISHSPNTSYDTALEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 695, "start_aa": "Asn", "end_pos": 695, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn695", "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": "Q8VHG2-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "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": 697, "start_aa": "Ser", "end_pos": 697, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser697", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "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": 753, "start_aa": "Ser", "end_pos": 753, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser753", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Thr755", "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": 755, "start_aa": "Thr", "end_pos": 755, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr755", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Ser818", "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": 818, "start_aa": "Ser", "end_pos": 818, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser818", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHG2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHG2" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8VHG2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHG2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "819", "end_pos": "819", "site_lbl": "Thr819", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 819, "start_aa": "Thr", "end_pos": 819, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr819", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Thr915", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 915, "start_aa": "Thr", "end_pos": 915, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr915", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "986", "end_pos": "986", "site_lbl": "Thr986", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 986, "start_aa": "Thr", "end_pos": 986, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr986", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8VHG2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHG2" }, { "database": "PubMed", "id": "23791731", "url": "https://glygen.org/publication/PubMed/23791731" } ] } ] }, { "uniprot_canonical_ac": "Q8VHG2-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHG2", "url": "https://www.uniprot.org/uniprotkb/Q8VHG2" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8VHG2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHG2" } ] } ] } ], "record_id": "Q8VHG2-1" }, { "uniprot_canonical_ac": "Q8CBW3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 52288.0, "gene_names": "Abi1;Abi1;E3B1;NAP1;Ssh3bp1;abi-1", "protein_name": "Abl interactor 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "actin-based cell projection", "id": "GO:0098858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098858", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "protein tyrosine kinase activator activity", "id": "GO:0030296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030296", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein tyrosine kinase activity", "id": "GO:0061098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061098", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "lamellipodium morphogenesis", "id": "GO:0072673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072673", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "cell projection morphogenesis", "id": "GO:0048858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048858", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" }, { "name": "postsynapse to nucleus signaling pathway", "id": "GO:0099527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099527", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HNSTTSSTSSGGYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "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": "Q8CBW3-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Thr367", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 367, "start_aa": "Thr", "end_pos": 367, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr367", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Thr178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8CBW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Tyr213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8CBW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CBW3" }, { "database": "PubMed", "id": "26428302", "url": "https://glygen.org/publication/PubMed/26428302" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Thr215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CBW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Tyr428", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8CBW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Thr480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Tyr53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW3", "url": "https://www.uniprot.org/uniprotkb/Q8CBW3" } ] } ] }, { "uniprot_canonical_ac": "Q8CBW3-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ala363", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "2", "chr_pos": "22836771", "evidence": [ { "id": "rs1131851106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131851106" } ] } ] } ], "record_id": "Q8CBW3-1" }, { "uniprot_canonical_ac": "Q80XL6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 779, "chemical_mass": 87366.0, "gene_names": "Acad11;5730439E10Rik;Acad11", "protein_name": "Acyl-CoA dehydrogenase family member 11", "disease": [], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0004466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004466", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "medium-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0070991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070991", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "very-long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0017099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017099", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "carboxylic acid catabolic process", "id": "GO:0046395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046395", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XL6-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q80XL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XL6" } ] } ] }, { "uniprot_canonical_ac": "Q80XL6-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Tyr323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XL6", "url": "https://www.uniprot.org/uniprotkb/Q80XL6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q80XL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XL6" } ] } ] } ], "record_id": "Q80XL6-1" }, { "uniprot_canonical_ac": "Q61315-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2845, "chemical_mass": 311089.0, "gene_names": "Apc", "protein_name": "Adenomatous polyposis coli protein", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { "id": "0050424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050424" } ], "weight": 0.0 }, { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0080409", "name": "familial adenomatous polyposis 1", "description": "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.", "url": "https://disease-ontology.org/term/DOID:0080409", "evidence": [ { "id": "0080409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080409" } ], "weight": 0.0 }, { "disease_id": "DOID:0111349", "name": "hereditary desmoid disease", "description": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.", "url": "https://disease-ontology.org/term/DOID:0111349", "evidence": [ { "id": "0111349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111349" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3025", "name": "acinar cell carcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.", "url": "https://disease-ontology.org/term/DOID:3025", "evidence": [ { "id": "3025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3025" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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: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:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "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: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cell projection membrane", "id": "GO:0031253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031253", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "Scrib-APC-beta-catenin complex", "id": "GO:0034750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034750", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060770", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "axis specification", "id": "GO:0009798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009798", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "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": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "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": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of microtubule-based process", "id": "GO:0032886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032886", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of attachment of spindle microtubules to kinetochore", "id": "GO:0051988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051988", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of protein localization to centrosome", "id": "GO:1904781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904781", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell proliferation", "id": "GO:0060044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060044", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of odontogenesis", "id": "GO:0042483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042483", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "metaphase/anaphase transition of mitotic cell cycle", "id": "GO:0007091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007091", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of cell cycle G1/S phase transition", "id": "GO:1902807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902807", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "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": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of glutamate metabolic process", "id": "GO:2000211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000211", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "nitrogen cycle metabolic process", "id": "GO:0071941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071941", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "negative regulation of multicellular organismal process", "id": "GO:0051241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051241", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "gamma-catenin binding", "id": "GO:0045295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045295", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Asn1160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PTNYSIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1160, "start_aa": "Asn", "end_pos": 1160, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1160", "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": "Q61315-1", "start_pos": "2308", "end_pos": "2308", "site_lbl": "Thr2308", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2308, "start_aa": "Thr", "end_pos": 2308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2308", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2349", "end_pos": "2349", "site_lbl": "Ser2349", "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": 2349, "start_aa": "Ser", "end_pos": 2349, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2349", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61315", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61315" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "18", "chr_pos": "34450252", "evidence": [ { "id": "rs241180580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241180580" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2377", "end_pos": "2377", "site_lbl": "Asn2377", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QLSQQNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2377, "start_aa": "Asn", "end_pos": 2377, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2377", "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": "Q61315-1", "start_pos": "2387", "end_pos": "2387", "site_lbl": "Asn2387", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NASSIPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2387, "start_aa": "Asn", "end_pos": 2387, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2387", "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": "Q61315-1", "start_pos": "2765", "end_pos": "2765", "site_lbl": "Ser2765", "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": 2765, "start_aa": "Ser", "end_pos": 2765, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2765", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61315", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2843", "end_pos": "2843", "site_lbl": "Thr2843", "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": 2843, "start_aa": "Thr", "end_pos": 2843, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2843", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61315", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Asn816", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01025ER", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SDNFNTGNMTVLSPYLNTTVLPSSSSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 816, "start_aa": "Asn", "end_pos": 816, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn816", "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": "Q61315-1", "start_pos": "865", "end_pos": "865", "site_lbl": "Thr865", "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": 865, "start_aa": "Thr", "end_pos": 865, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr865", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61315", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Thr879", "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": 879, "start_aa": "Thr", "end_pos": 879, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr879", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61315", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61315" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Thr881", "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": 881, "start_aa": "Thr", "end_pos": 881, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr881", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61315", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61315" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q61315", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61315" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1036", "end_pos": "1036", "site_lbl": "Ser1036", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1040", "end_pos": "1040", "site_lbl": "Ser1040", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1359", "end_pos": "1359", "site_lbl": "Ser1359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Ser1370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Ser1384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1391", "end_pos": "1391", "site_lbl": "Ser1391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1394", "end_pos": "1394", "site_lbl": "Ser1394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Thr1437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1565", "end_pos": "1565", "site_lbl": "Ser1565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1772", "end_pos": "1772", "site_lbl": "Ser1772", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1859", "end_pos": "1859", "site_lbl": "Ser1859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1861", "end_pos": "1861", "site_lbl": "Ser1861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1862", "end_pos": "1862", "site_lbl": "Ser1862", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1969", "end_pos": "1969", "site_lbl": "Ser1969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "1971", "end_pos": "1971", "site_lbl": "Ser1971", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2087", "end_pos": "2087", "site_lbl": "Ser2087", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2092", "end_pos": "2092", "site_lbl": "Ser2092", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2125", "end_pos": "2125", "site_lbl": "Ser2125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2129", "end_pos": "2129", "site_lbl": "Ser2129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2130", "end_pos": "2130", "site_lbl": "Ser2130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2132", "end_pos": "2132", "site_lbl": "Ser2132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2151", "end_pos": "2151", "site_lbl": "Thr2151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2260", "end_pos": "2260", "site_lbl": "Ser2260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2270", "end_pos": "2270", "site_lbl": "Ser2270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2283", "end_pos": "2283", "site_lbl": "Ser2283", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2473", "end_pos": "2473", "site_lbl": "Ser2473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2535", "end_pos": "2535", "site_lbl": "Ser2535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2569", "end_pos": "2569", "site_lbl": "Ser2569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2671", "end_pos": "2671", "site_lbl": "Ser2671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2674", "end_pos": "2674", "site_lbl": "Ser2674", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2679", "end_pos": "2679", "site_lbl": "Thr2679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2713", "end_pos": "2713", "site_lbl": "Ser2713", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2726", "end_pos": "2726", "site_lbl": "Ser2726", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "2791", "end_pos": "2791", "site_lbl": "Ser2791", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Ser778", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Ser906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] }, { "uniprot_canonical_ac": "Q61315-1", "start_pos": "985", "end_pos": "985", "site_lbl": "Ser985", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61315", "url": "https://www.uniprot.org/uniprotkb/Q61315" } ] } ] } ], "record_id": "Q61315-1" }, { "uniprot_canonical_ac": "Q61824-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 903, "chemical_mass": 98504.0, "gene_names": "Adam12;5830403F22Rik;Adam12;Mltna", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 12", "disease": [ { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61824-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Asn112", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Asn147", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLIMFENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "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" } ] }, { "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": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asn157", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asn182", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 182, "start_aa": "Asn", "end_pos": 182, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn182", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asn450", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Asn649", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CQNISVFGVHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 649, "start_aa": "Asn", "end_pos": 649, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn649", "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" } ] }, { "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": 649, "start_aa": "Asn", "end_pos": 649, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn649", "evidence": [ { "id": "Q61824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61824#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Tyr901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61824", "url": "https://www.uniprot.org/uniprotkb/Q61824" }, { "database": "iPTMnet", "id": "Q61824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61824" }, { "database": "PubMed", "id": "11127814", "url": "https://glygen.org/publication/PubMed/11127814" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHT->NHM).", "chr_id": "7", "chr_pos": "133614007", "evidence": [ { "id": "rs33336379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33336379" } ] } ] }, { "uniprot_canonical_ac": "Q61824-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Ser392", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SCS->NCS).", "chr_id": "7", "chr_pos": "133511658", "evidence": [ { "id": "rs3388937169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937169" } ] } ] } ], "record_id": "Q61824-1" }, { "uniprot_canonical_ac": "P46662-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 596, "chemical_mass": 69776.0, "gene_names": "Nf2;Nf-2;Nf2;merlin", "protein_name": "Merlin", "disease": [ { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "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:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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:4586", "name": "familial meningioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4586", "evidence": [ { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" } ], "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:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "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 } ], "biological_process": [ { "name": "positive regulation of protein localization to early endosome", "id": "GO:1902966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902966", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of hippo signaling", "id": "GO:0035330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035330", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "negative regulation of cell growth involved in contact inhibition", "id": "GO:0060243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060243", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "Schwann cell proliferation", "id": "GO:0014010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014010", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of gliogenesis", "id": "GO:0014013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014013", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of neural precursor cell proliferation", "id": "GO:2000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000177", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "regulation of protein localization to nucleus", "id": "GO:1900180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900180", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "actin-based cell projection", "id": "GO:0098858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098858", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46662-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P46662", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46662" }, { "database": "PubMed", "id": "33414453", "url": "https://glygen.org/publication/PubMed/33414453" } ] } ] }, { "uniprot_canonical_ac": "P46662-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" } ] } ] }, { "uniprot_canonical_ac": "P46662-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46662", "url": "https://www.uniprot.org/uniprotkb/P46662" }, { "database": "iPTMnet", "id": "P46662", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46662" }, { "database": "PubMed", "id": "21085651", "url": "https://glygen.org/publication/PubMed/21085651" }, { "database": "PubMed", "id": "32422606", "url": "https://glygen.org/publication/PubMed/32422606" }, { "database": "PubMed", "id": "33414453", "url": "https://glygen.org/publication/PubMed/33414453" } ] } ] } ], "record_id": "P46662-1" }, { "uniprot_canonical_ac": "Q8CGM1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1561, "chemical_mass": 169863.0, "gene_names": "Adgrb2;Adgrb2;Bai2", "protein_name": "Adhesion G protein-coupled receptor B2", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" }, { "name": "calcineurin-NFAT signaling cascade", "id": "GO:0033173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033173", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "1423", "end_pos": "1423", "site_lbl": "Thr1423", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1423, "start_aa": "Thr", "end_pos": 1423, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1423", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asn182", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FVEVLLINNNNSSQFTCGVLCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 182, "start_aa": "Asn", "end_pos": 182, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn182", "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" } ] }, { "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": 182, "start_aa": "Asn", "end_pos": 182, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn182", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asn183", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->YSS).", "chr_id": "4", "chr_pos": "129886408", "evidence": [ { "id": "rs3388712414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388712414" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 257, "start_aa": "Ser", "end_pos": 257, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser257", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Asn347", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LCSMAACPVEGQWLEWGPWGPCSSSCANGTQQRSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "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" } ] }, { "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": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Asn551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CPPNASGSASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 551, "start_aa": "Asn", "end_pos": 551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn551", "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" } ] }, { "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": 551, "start_aa": "Asn", "end_pos": 551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn551", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Asn636", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RTYYSGDLLFSVDILRNVTDTFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "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" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "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": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Thr767", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 767, "start_aa": "Thr", "end_pos": 767, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr767", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Asn861", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 861, "start_aa": "Asn", "end_pos": 861, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn861", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2108", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2108" } ] }, { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLPLDHYLVNFTCLRPGPEEATAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "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" } ] }, { "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": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "Q8CGM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "1345", "end_pos": "1345", "site_lbl": "Tyr1345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGM1", "url": "https://www.uniprot.org/uniprotkb/Q8CGM1" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8CGM1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGM1" } ] } ] }, { "uniprot_canonical_ac": "Q8CGM1-1", "start_pos": "1288", "end_pos": "1288", "site_lbl": "Ser1288", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "4", "chr_pos": "129912574", "evidence": [ { "id": "rs3394888452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394888452" } ] } ] } ], "record_id": "Q8CGM1-1" }, { "uniprot_canonical_ac": "Q3V1L4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 560, "chemical_mass": 64809.0, "gene_names": "Nt5c2;2010002I23Rik;CnII;Gm9751;Gmp;Nt5b;Nt5c2;Pnt5;cN-II", "protein_name": "Cytosolic purine 5'-nucleotidase", "disease": [ { "disease_id": "DOID:0110797", "name": "hereditary spastic paraplegia 45", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0110797", "evidence": [ { "id": "0110797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110797" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of defense response to virus by host", "id": "GO:0050689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050689", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "dGMP metabolic process", "id": "GO:0046054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046054", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "GMP metabolic process", "id": "GO:0046037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046037", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "IMP metabolic process", "id": "GO:0046040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046040", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "allantoin metabolic process", "id": "GO:0000255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000255", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "IMP catabolic process", "id": "GO:0006204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006204", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "dGMP catabolic process", "id": "GO:0046055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046055", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "5'-nucleotidase activity", "id": "GO:0008253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008253", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "nucleoside phosphotransferase activity", "id": "GO:0050146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050146", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "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": 193, "start_aa": "Ser", "end_pos": 193, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser193", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q3V1L4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V1L4" } ] } ] }, { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ] } ] }, { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ] } ] }, { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" } ] } ] }, { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V1L4", "url": "https://www.uniprot.org/uniprotkb/Q3V1L4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3V1L4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3V1L4" } ] } ] }, { "uniprot_canonical_ac": "Q3V1L4-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Phe141", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKF->NKC).", "chr_id": "19", "chr_pos": "46887301", "evidence": [ { "id": "rs3389511483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511483" } ] } ] } ], "record_id": "Q3V1L4-1" }, { "uniprot_canonical_ac": "O88566-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 840, "chemical_mass": 92906.0, "gene_names": "Axin2;Axi1;Axil;Axin2;Conductin", "protein_name": "Axin-2", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { "id": "0050424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050424" } ], "weight": 0.0 }, { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050912", "name": "colon adenoma", "description": "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050912", "evidence": [ { "id": "0050912", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050912" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "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:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "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:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "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": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "regulation of Wnt signaling pathway", "id": "GO:0030111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030111", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "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": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "intramembranous ossification", "id": "GO:0001957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001957", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "chondrocyte differentiation involved in endochondral bone morphogenesis", "id": "GO:0003413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003413", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "regulation of mismatch repair", "id": "GO:0032423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032423", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "maintenance of DNA repeat elements", "id": "GO:0043570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043570", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "regulation of chondrocyte development", "id": "GO:0061181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061181", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "regulation of centromeric sister chromatid cohesion", "id": "GO:0070602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070602", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O88566", "url": "https://www.uniprot.org/uniprotkb/O88566" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88566-1" }, { "uniprot_canonical_ac": "P97346-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 435, "chemical_mass": 48344.0, "gene_names": "Nxn;Gn25;Nxn;l11Jus13", "protein_name": "Nucleoredoxin", "disease": [ { "disease_id": "DOID:0060974", "name": "autosomal recessive Robinow syndrome 2", "description": "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0060974", "evidence": [ { "id": "0060974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060974" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "thioredoxin-disulfide reductase (NADPH) activity", "id": "GO:0004791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004791", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "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": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97346-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Cys205", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of function and interaction with DVL1; when associated with S-208.", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" }, { "database": "PubMed", "id": "16604061", "url": "https://glygen.org/publication/PubMed/16604061" } ] } ] }, { "uniprot_canonical_ac": "P97346-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Cys208", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of function and interaction with DVL1; when associated with S-205.", "evidence": [ { "database": "UniProtKB", "id": "P97346", "url": "https://www.uniprot.org/uniprotkb/P97346" }, { "database": "PubMed", "id": "16604061", "url": "https://glygen.org/publication/PubMed/16604061" } ] } ] } ], "record_id": "P97346-1" }, { "uniprot_canonical_ac": "Q8VC56-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 488, "chemical_mass": 55517.0, "gene_names": "Rnf8;3830404E21Rik;AIP37;Rnf8;laXp180", "protein_name": "E3 ubiquitin-protein ligase RNF8", "disease": [], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VC56-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC56", "url": "https://www.uniprot.org/uniprotkb/Q8VC56" } ] } ] } ], "record_id": "Q8VC56-1" }, { "uniprot_canonical_ac": "Q8JZN5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 625, "chemical_mass": 68722.0, "gene_names": "Acad9;2600017P15Rik;4732402K02;Acad9;C630012L17Rik;NPD002", "protein_name": "Complex I assembly factor ACAD9, mitochondrial", "disease": [ { "disease_id": "DOID:0112072", "name": "nuclear type mitochondrial complex I deficiency 20", "description": "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.", "url": "https://disease-ontology.org/term/DOID:0112072", "evidence": [ { "id": "0112072", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112072" } ], "weight": 0.0 } ], "biological_process": [ { "name": "carboxylic acid catabolic process", "id": "GO:0046395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046395", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "medium-chain fatty acid metabolic process", "id": "GO:0051791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051791", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" } ], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0004466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004466", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "medium-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0070991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070991", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "very-long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0017099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017099", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" }, { "name": "mitochondrial complex I intermediate assembly complex", "id": "GO:0160295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160295", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZN5-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Asn463", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SGNVTTVMETIGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 463, "start_aa": "Asn", "end_pos": 463, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn463", "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": "Q8JZN5-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZN5", "url": "https://www.uniprot.org/uniprotkb/Q8JZN5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZN5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZN5" } ] } ] }, { "uniprot_canonical_ac": "Q8JZN5-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Thr465", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "3", "chr_pos": "36142660", "evidence": [ { "id": "rs3388626900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388626900" } ] } ] } ], "record_id": "Q8JZN5-1" }, { "uniprot_canonical_ac": "Q8JZZ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1487, "chemical_mass": 166577.0, "gene_names": "Adgrl2;Kiaa0786;Lphn2", "protein_name": "Adhesion G protein-coupled receptor L2", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "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": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" } ], "biological_process": [ { "name": "excitatory synapse assembly", "id": "GO:1904861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904861", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "1186", "end_pos": "1186", "site_lbl": "Asn1186", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G87123QX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KQSESSFISGDINSTSTLNQGLTSHGPR", "relation": "attached", "comment": "reported site N1145 is on non-canonical isoform A0A0G2JDE3-1 which maps to canonical isoform site Q8JZZ7-1:1186", "icn3d_view": {}, "start_pos": 1186, "start_aa": "Asn", "end_pos": 1186, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1186", "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": "Q8JZZ7-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Asn524", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49955PK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPDLSNCTSHWVNQLAQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 524, "start_aa": "Asn", "end_pos": 524, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn524", "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" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPDLSNCTSHWVNQLAQK", "relation": "attached", "comment": "reported site N520 is on non-canonical isoform A0A0G2JDE3-1 which maps to canonical isoform site Q8JZZ7-1:524", "icn3d_view": {}, "start_pos": 524, "start_aa": "Asn", "end_pos": 524, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn524", "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" } ] }, { "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": 524, "start_aa": "Asn", "end_pos": 524, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn524", "evidence": [ { "id": "Q8JZZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Asn735", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLGQFLSTENATIK", "relation": "attached", "comment": "reported site N718 is on non-canonical isoform A0A0G2JDE3-1 which maps to canonical isoform site Q8JZZ7-1:735", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "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" } ] }, { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLGQFLSTENATIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "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" } ] }, { "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": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "Q8JZZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Asn748", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSTIAVNSPVISVSINK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 748, "start_aa": "Asn", "end_pos": 748, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn748", "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" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSTIAVNSPVISVSINK", "relation": "attached", "comment": "reported site N731 is on non-canonical isoform A0A0G2JDE3-1 which maps to canonical isoform site Q8JZZ7-1:748", "icn3d_view": {}, "start_pos": 748, "start_aa": "Asn", "end_pos": 748, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn748", "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": "Q8JZZ7-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Asn817", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2418" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2418" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2418" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2418" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->YKT).", "chr_id": "3", "chr_pos": "148543274", "evidence": [ { "id": "rs3393587122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393587122" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "Q8JZZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Ser1402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8JZZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZZ7" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Ser1437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZZ7" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "1458", "end_pos": "1458", "site_lbl": "Ser1458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZZ7", "url": "https://www.uniprot.org/uniprotkb/Q8JZZ7" }, { "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": "Q8JZZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZZ7" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": "1188", "end_pos": "1188", "site_lbl": "Thr1188", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSI).", "chr_id": "3", "chr_pos": "148528608", "evidence": [ { "id": "rs3388666970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666970" } ] } ] } ], "record_id": "Q8JZZ7-1" }, { "uniprot_canonical_ac": "Q8JZR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 683, "chemical_mass": 76206.0, "gene_names": "Acsl5;1700030F05Rik;ACS2;ACS5;Acsl5;Facl5", "protein_name": "Long-chain-fatty-acid--CoA ligase 5", "disease": [ { "disease_id": "DOID:0060774", "name": "congenital diarrhea", "description": "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.", "url": "https://disease-ontology.org/term/DOID:0060774", "evidence": [ { "id": "0060774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060774" } ], "weight": 0.0 } ], "biological_process": [ { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA biosynthetic process", "id": "GO:0035338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035338", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001236", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "positive regulation of long-chain fatty acid import across plasma membrane", "id": "GO:0010747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010747", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "arachidonate-CoA ligase activity", "id": "GO:0047676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047676", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "oleoyl-CoA ligase activity", "id": "GO:0090434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090434", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8JZR0", "url": "https://www.uniprot.org/uniprotkb/Q8JZR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZR0-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Thr14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Thr", "end_pos": 14, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr14", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8JZR0-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Thr350", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 350, "start_aa": "Thr", "end_pos": 350, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr350", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8JZR0-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Pro143", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "19", "chr_pos": "55266609", "evidence": [ { "id": "rs3389542584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542584" } ] } ] } ], "record_id": "Q8JZR0-1" }, { "uniprot_canonical_ac": "G5E8Q8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1348, "chemical_mass": 149387.0, "gene_names": "Adgrf5;8430401C09Rik;9330185D23;Adgrf5;Gpr116;mKIAA0758", "protein_name": "Adhesion G protein-coupled receptor F5", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "negative regulation of macrophage activation", "id": "GO:0043031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043031", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "positive regulation of phospholipid biosynthetic process", "id": "GO:0071073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071073", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNIGFQEDLKNTSSALYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "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": "G5E8Q8-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asn254", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ANEQVIQNLNHTYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "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": "G5E8Q8-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Asn270", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MDYNSFQGTPSNETK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "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" } ] }, { "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": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Asn286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "17", "chr_pos": "43739384", "evidence": [ { "id": "rs3389413137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413137" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Asn326", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YSIHTTVINNISLITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 326, "start_aa": "Asn", "end_pos": 326, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn326", "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": "G5E8Q8-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Asn337", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 337, "start_aa": "Asn", "end_pos": 337, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn337", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Asn396", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNCCSENIANWSSIEWK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 396, "start_aa": "Asn", "end_pos": 396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn396", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NWS->KWS).", "chr_id": "17", "chr_pos": "43741552", "evidence": [ { "id": "rs3389422744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422744" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Asn470", "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": "NIAVTFTSVANLTITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 470, "start_aa": "Asn", "end_pos": 470, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn470", "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" } ] }, { "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": 470, "start_aa": "Asn", "end_pos": 470, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn470", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Asn538", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 538, "start_aa": "Asn", "end_pos": 538, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn538", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Asn648", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DIAVFCHFTNAANSSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 648, "start_aa": "Asn", "end_pos": 648, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn648", "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": "G5E8Q8-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Asn665", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENVTCQDPIIGIGDPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "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" } ] }, { "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": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "evidence": [ { "id": "G5E8Q8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "819", "end_pos": "819", "site_lbl": "Asn819", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLQQQSNQSSQFLHSVER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 819, "start_aa": "Asn", "end_pos": 819, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn819", "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": "G5E8Q8-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2110", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2110" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2110", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2110" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AHLNNLSFPIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "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": "G5E8Q8-1", "start_pos": "1302", "end_pos": "1302", "site_lbl": "Thr1302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8Q8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8Q8" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Ser1309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8Q8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8Q8" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Ser818", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Lys531", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "17", "chr_pos": "43751029", "evidence": [ { "id": "rs227892671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227892671" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "17", "chr_pos": "43733495", "evidence": [ { "id": "rs3389376597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389376597" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Ser1000", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on protein expression; no effect on location at the plasma membrane; no effect on inositol monophosphate conversion; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1001", "end_pos": "1001", "site_lbl": "Pro1001", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on protein expression; no effect on location at the plasma membrane; no effect on inositol monophosphate conversion; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1002", "end_pos": "1002", "site_lbl": "Asp1002", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; Decreased inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Ser1003", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Pro1004", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Decreased basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1158", "end_pos": "1158", "site_lbl": "Tyr1158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Unresponsive to exogenous ligand-mediated activation; no effect on location at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Exogenous ligand-mediated activation similar to wild-type, albeit with lower potency; no effect on location at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Arg1160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Unresponsive to exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Unresponsive to exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1165", "end_pos": "1165", "site_lbl": "Trp1165", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of, or strong reduction, in exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "W", "sequence_mut": "F", "comment": "Loss of, or strong reduction, in exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "W", "sequence_mut": "V", "comment": "Loss of, or strong reduction, in exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "W", "sequence_mut": "Y", "comment": "Loss of, or strong reduction, in exogenous ligand-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1166", "end_pos": "1166", "site_lbl": "Leu1166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Unresponsive to exogenous ligand-mediated activation; no effect on location at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Unresponsive to exogenous ligand-mediated activation; no effect on location at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Thr1240", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Unresponsive to exogenous ligand-mediated activation; no effect on location at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Exogenous ligand-mediated activation maintained, although with decreased efficacy compared to wild-type.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "991", "end_pos": "991", "site_lbl": "His991", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of autocatalytic cleavage; exhibits higher levels of saturated phosphatidylcholine in the bronchoalveolar lavage fluid, when tested in 8 week-old transgenic mice, a phenotype similar to that of knockout animals, suggesting loss of function in vivo; does not affect localization at the plasma membrane; does not affect the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "993", "end_pos": "993", "site_lbl": "Thr993", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on protein expression; no effect on location at the plasma membrane; no effect on inositol monophosphate conversion; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "994", "end_pos": "994", "site_lbl": "Ser994", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on protein expression; no effect on location at the plasma membrane; no effect on inositol monophosphate conversion; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Phe995", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Complete inhibition of basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "996", "end_pos": "996", "site_lbl": "Ser996", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on protein expression; no effect on location at the plasma membrane; no effect on inositol monophosphate conversion; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "997", "end_pos": "997", "site_lbl": "Ile997", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Decreased basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "998", "end_pos": "998", "site_lbl": "Leu998", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Complete inhibition of basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] }, { "uniprot_canonical_ac": "G5E8Q8-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Met999", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Complete inhibition of basal inositol monophosphate formation, when tested in transfected HEK293 cells; no effect on protein expression; no effect on location at the plasma membrane; no effect on the response to exogenously added agonistic peptide.", "evidence": [ { "database": "UniProtKB", "id": "G5E8Q8", "url": "https://www.uniprot.org/uniprotkb/G5E8Q8" }, { "database": "PubMed", "id": "36073784", "url": "https://glygen.org/publication/PubMed/36073784" } ] } ] } ], "record_id": "G5E8Q8-1" }, { "uniprot_canonical_ac": "Q08509-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 821, "chemical_mass": 91737.0, "gene_names": "Eps8;Eps8", "protein_name": "Epidermal growth factor receptor kinase substrate 8", "disease": [ { "disease_id": "DOID:0110463", "name": "autosomal recessive nonsyndromic deafness 102", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0110463", "evidence": [ { "id": "0110463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110463" } ], "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": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "NMDA selective glutamate receptor complex", "id": "GO:0017146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017146", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "stereocilium tip", "id": "GO:0032426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032426", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin filament length", "id": "GO:0030832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030832", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "actin polymerization-dependent cell motility", "id": "GO:0070358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070358", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "exit from mitosis", "id": "GO:0010458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010458", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08509-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Thr628", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 628, "start_aa": "Thr", "end_pos": 628, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr628", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "137467374", "evidence": [ { "id": "rs250853381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250853381" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not detach from actin following BDNF treatment; when associated with A-624.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Mimicks phosphorylation state; promotes detachment from actin in absence of BDNF treatment; when associated with E-624.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Asn652", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VPANVTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 652, "start_aa": "Asn", "end_pos": 652, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn652", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->DVT).", "chr_id": "6", "chr_pos": "137467302", "evidence": [ { "id": "rs16811271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16811271" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Asn719", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G57489SP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KFHVPRQNVPVINITYDSSPEEVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 719, "start_aa": "Asn", "end_pos": 719, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn719", "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": "Q08509-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Asn787", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AALEDSNGSSELQEIMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 787, "start_aa": "Asn", "end_pos": 787, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn787", "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": "Q08509-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Asn7", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGHMSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 7, "start_aa": "Asn", "end_pos": 7, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn7", "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": "Q08509-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Thr317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Tyr497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" }, { "database": "PubMed", "id": "28214294", "url": "https://glygen.org/publication/PubMed/28214294" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Tyr524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" }, { "database": "PubMed", "id": "28214294", "url": "https://glygen.org/publication/PubMed/28214294" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Tyr534", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" }, { "database": "PubMed", "id": "28214294", "url": "https://glygen.org/publication/PubMed/28214294" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Ser624", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not detach from actin following BDNF treatment; when associated with A-628.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Mimicks phosphorylation state; promotes detachment from actin in absence of BDNF treatment; when associated with E-628.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "19564905", "url": "https://glygen.org/publication/PubMed/19564905" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Ser658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Ser661", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Ser810", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ser814", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q08509", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08509" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Val689", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Abolishes barbed-end actin-binding without affecting actin bundling activity.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "20532239", "url": "https://glygen.org/publication/PubMed/20532239" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Leu693", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Abolishes barbed-end actin-binding without affecting actin bundling activity.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "20532239", "url": "https://glygen.org/publication/PubMed/20532239" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Arg706", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs both actin capping and bundling activities.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "20532239", "url": "https://glygen.org/publication/PubMed/20532239" } ] } ] }, { "uniprot_canonical_ac": "Q08509-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Phe708", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impairs both actin capping and bundling activities.", "evidence": [ { "database": "UniProtKB", "id": "Q08509", "url": "https://www.uniprot.org/uniprotkb/Q08509" }, { "database": "PubMed", "id": "20532239", "url": "https://glygen.org/publication/PubMed/20532239" } ] } ] } ], "record_id": "Q08509-1" }, { "uniprot_canonical_ac": "Q5XG73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 508, "chemical_mass": 56614.0, "gene_names": "Acbd5;1300014E15Rik;Acbd5", "protein_name": "Acyl-CoA-binding domain-containing protein 5", "disease": [ { "disease_id": "DOID:0080946", "name": "retinal dystrophy with leukodystrophy", "description": "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.", "url": "https://disease-ontology.org/term/DOID:0080946", "evidence": [ { "id": "0080946", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080946" } ], "weight": 0.0 }, { "disease_id": "DOID:906", "name": "peroxisomal disease", "description": "An inherited metabolic disorder that involves peroxisome malfunction.", "url": "https://disease-ontology.org/term/DOID:906", "evidence": [ { "id": "906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:906" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" }, { "name": "pexophagy", "id": "GO:0000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000425", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asn61", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGSFQPTNEMMLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 61, "start_aa": "Asn", "end_pos": 61, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn61", "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": "Q5XG73-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" }, { "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": "Q5XG73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" }, { "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": "Q5XG73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" }, { "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": "Q5XG73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" }, { "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": "Q5XG73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q5XG73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ser303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ] } ] }, { "uniprot_canonical_ac": "Q5XG73-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XG73", "url": "https://www.uniprot.org/uniprotkb/Q5XG73" } ] } ] } ], "record_id": "Q5XG73-1" }, { "uniprot_canonical_ac": "Q9JIF0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 371, "chemical_mass": 42436.0, "gene_names": "Prmt1;6720434D09Rik;Hrmt1l2;Mrmt1;Prmt1", "protein_name": "Protein arginine N-methyltransferase 1", "disease": [ { "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:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of double-strand break repair via homologous recombination", "id": "GO:2000042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000042", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "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": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "regulation of megakaryocyte differentiation", "id": "GO:0045652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045652", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of megakaryocyte differentiation", "id": "GO:0045653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045653", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation, to asymmetrical-dimethyl arginine", "id": "GO:0019919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019919", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "regulation of BMP signaling pathway", "id": "GO:0030510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030510", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "peptidyl-arginine omega-N-methylation", "id": "GO:0035247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035247", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "methylosome", "id": "GO:0034709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "N-methyltransferase activity", "id": "GO:0008170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008170", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein methyltransferase activity", "id": "GO:0008276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008276", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "methyl-CpG binding", "id": "GO:0008327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008327", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein-arginine N-methyltransferase activity", "id": "GO:0016274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016274", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein-arginine omega-N asymmetric methyltransferase activity", "id": "GO:0035242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035242", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "histone H4R3 methyltransferase activity", "id": "GO:0044020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044020", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase p38 binding", "id": "GO:0048273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048273", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "protein-arginine omega-N monomethyltransferase activity", "id": "GO:0035241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035241", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "snoRNP binding", "id": "GO:0030519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030519", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "S-adenosyl-L-methionine binding", "id": "GO:1904047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904047", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" }, { "name": "GATOR1 complex binding", "id": "GO:0106080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106080", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Lys145", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased stability of the protein caused by impaired ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Glu162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Inhibits methionine-stimulated mTORC1 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "38006878", "url": "https://glygen.org/publication/PubMed/38006878" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Lys212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased stability of the protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ile227", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Slightly reduced degradation, probably caused by reduced ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Lys228", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimicks residue acetylation; impaired interaction with FBXL17, leading to decreased ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased interaction with FBXL17, leading to increased ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ile232", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Slightly reduced degradation, probably caused by reduced ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Lys233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimicks residue acetylation; increased interaction with FBXL17, leading to increased ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired interaction with FBXL17, leading to decreased ubiquitination by the SCF(FBXL17) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Lys356", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased stability of the protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "28883095", "url": "https://glygen.org/publication/PubMed/28883095" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF0-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Gly98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Inhibits methionine-stimulated mTORC1signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF0", "url": "https://www.uniprot.org/uniprotkb/Q9JIF0" }, { "database": "PubMed", "id": "38006878", "url": "https://glygen.org/publication/PubMed/38006878" } ] } ] } ], "record_id": "Q9JIF0-1" }, { "uniprot_canonical_ac": "Q8BZI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 768, "chemical_mass": 86638.0, "gene_names": "Afap1l1;Afap1l1", "protein_name": "Actin filament-associated protein 1-like 1", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q8BZI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Tyr557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Ser747", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ] } ] }, { "uniprot_canonical_ac": "Q8BZI0-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZI0", "url": "https://www.uniprot.org/uniprotkb/Q8BZI0" } ] } ] } ], "record_id": "Q8BZI0-1" }, { "uniprot_canonical_ac": "Q08501-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 608, "chemical_mass": 68241.0, "gene_names": "Prlr;PRLR;Pr-1;Pr-3;Prlr-rs1;Prlr", "protein_name": "Prolactin receptor", "disease": [ { "disease_id": "DOID:0050547", "name": "familial medullary thyroid carcinoma", "description": "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.", "url": "https://disease-ontology.org/term/DOID:0050547", "evidence": [ { "id": "0050547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050547" } ], "weight": 0.0 }, { "disease_id": "DOID:12700", "name": "hyperprolactinemia", "description": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.", "url": "https://disease-ontology.org/term/DOID:12700", "evidence": [ { "id": "12700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12700" } ], "weight": 0.0 } ], "biological_process": [ { "name": "activation of transmembrane receptor protein tyrosine kinase activity", "id": "GO:0007171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007171", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "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": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "mammary gland epithelial cell differentiation", "id": "GO:0060644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060644", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "prostate gland growth", "id": "GO:0060736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060736", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "cellular response to granulocyte macrophage colony-stimulating factor stimulus", "id": "GO:0097011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097011", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "positive regulation of protein autophosphorylation", "id": "GO:0031954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031954", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "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": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "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": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "activation of Janus kinase activity", "id": "GO:0042976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042976", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" }, { "name": "prolactin receptor activity", "id": "GO:0004925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004925", "evidence": [ { "database": "UniProtKB", "id": "Q08501", "url": "https://www.uniprot.org/uniprotkb/Q08501" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08501-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asn127", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "Q08501", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08501#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08501-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Thr388", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 388, "start_aa": "Thr", "end_pos": 388, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr388", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q08501-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Asn54", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 54, "start_aa": "Asn", "end_pos": 54, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn54", "evidence": [ { "id": "Q08501", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08501#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08501-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "Q08501", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08501#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08501-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Pro386", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "15", "chr_pos": "10328682", "evidence": [ { "id": "rs219509266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219509266" } ] } ] }, { "uniprot_canonical_ac": "Q08501-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "15", "chr_pos": "10329265", "evidence": [ { "id": "rs49619480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49619480" } ] } ] } ], "record_id": "Q08501-1" }, { "uniprot_canonical_ac": "P48193-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 858, "chemical_mass": 95911.0, "gene_names": "Epb41;4.1R;D4Ertd442e;Elp-1;Elp1;Epb4.1;Epb41;Kiaa4056;mKIAA4056", "protein_name": "Protein 4.1", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:2373", "name": "hereditary elliptocytosis", "description": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.", "url": "https://disease-ontology.org/term/DOID:2373", "evidence": [ { "id": "2373", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2373" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "1-phosphatidylinositol binding", "id": "GO:0005545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005545", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell cortex", "id": "GO:1904778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904778", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "regulation of intestinal absorption", "id": "GO:1904478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904478", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48193-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Thr618", "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": 618, "start_aa": "Thr", "end_pos": 618, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr618", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P48193", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48193" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Thr621", "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": 621, "start_aa": "Thr", "end_pos": 621, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr621", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P48193", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48193" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Thr754", "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": 754, "start_aa": "Thr", "end_pos": 754, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr754", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P48193", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48193" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Tyr223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Thr379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "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": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Ser556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Thr62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Tyr654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Ser658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Ser668", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48193", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ser703", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Thr730", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Thr853", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] }, { "uniprot_canonical_ac": "P48193-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48193", "url": "https://www.uniprot.org/uniprotkb/P48193" } ] } ] } ], "record_id": "P48193-1" }, { "uniprot_canonical_ac": "E9Q394-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2776, "chemical_mass": 303976.0, "gene_names": "Akap13;1700026G02Rik;5730522G15Rik;5830460E08Rik;AKAP-13;AKAP-Lbc;Akap13;BRX;Brx;Ht31;LBC;PROTO-LBC;PROTO-LB", "protein_name": "A-kinase anchor protein 13", "disease": [], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "MAP-kinase scaffold activity", "id": "GO:0005078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005078", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "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": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "adrenergic receptor signaling pathway", "id": "GO:0071875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071875", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "regulation of sarcomere organization", "id": "GO:0060297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060297", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "regulation of nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:2000322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000322", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2093", "end_pos": "2093", "site_lbl": "Ser2093", "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": 2093, "start_aa": "Ser", "end_pos": 2093, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2093", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "E9Q394", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Thr656", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 656, "start_aa": "Thr", "end_pos": 656, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr656", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1455", "end_pos": "1455", "site_lbl": "Ser1455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Ser1473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1507", "end_pos": "1507", "site_lbl": "Ser1507", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1532", "end_pos": "1532", "site_lbl": "Ser1532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1569", "end_pos": "1569", "site_lbl": "Ser1569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1608", "end_pos": "1608", "site_lbl": "Ser1608", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1611", "end_pos": "1611", "site_lbl": "Ser1611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1613", "end_pos": "1613", "site_lbl": "Ser1613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Ser1839", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "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": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1858", "end_pos": "1858", "site_lbl": "Ser1858", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1892", "end_pos": "1892", "site_lbl": "Ser1892", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1893", "end_pos": "1893", "site_lbl": "Thr1893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1895", "end_pos": "1895", "site_lbl": "Ser1895", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "1908", "end_pos": "1908", "site_lbl": "Ser1908", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2308", "end_pos": "2308", "site_lbl": "Ser2308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2361", "end_pos": "2361", "site_lbl": "Ser2361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2431", "end_pos": "2431", "site_lbl": "Thr2431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2527", "end_pos": "2527", "site_lbl": "Ser2527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2530", "end_pos": "2530", "site_lbl": "Ser2530", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2673", "end_pos": "2673", "site_lbl": "Ser2673", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2692", "end_pos": "2692", "site_lbl": "Ser2692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "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": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Ser784", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Thr809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Thr941", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q394", "url": "https://www.uniprot.org/uniprotkb/E9Q394" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q394" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2167", "end_pos": "2167", "site_lbl": "Ile2167", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IYT->NYT).", "chr_id": "7", "chr_pos": "75380225", "evidence": [ { "id": "rs3388896813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896813" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2240", "end_pos": "2240", "site_lbl": "Lys2240", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "7", "chr_pos": "75386042", "evidence": [ { "id": "rs3388918982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918982" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "2359", "end_pos": "2359", "site_lbl": "Asp2359", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCS->NCS).", "chr_id": "7", "chr_pos": "75389212", "evidence": [ { "id": "rs3507871725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507871725" } ] } ] }, { "uniprot_canonical_ac": "E9Q394-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "7", "chr_pos": "75258912", "evidence": [ { "id": "rs5528096195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528096195" } ] } ] } ], "record_id": "E9Q394-1" }, { "uniprot_canonical_ac": "Q9D1F4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 257, "chemical_mass": 27483.0, "gene_names": "Akt1s1;1110012J22Rik;Akt1s1;Lobel;Lobe;PRAS40;Pras", "protein_name": "Proline-rich AKT1 substrate 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "TORC1 complex", "id": "GO:0031931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031931", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" } ], "biological_process": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Thr166", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 166, "start_aa": "Thr", "end_pos": 166, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr166", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "44503398", "evidence": [ { "id": "rs243516165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243516165" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Ser117", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "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": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "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": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "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": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "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": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" }, { "database": "PubMed", "id": "29176673", "url": "https://glygen.org/publication/PubMed/29176673" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] }, { "uniprot_canonical_ac": "Q9D1F4-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1F4", "url": "https://www.uniprot.org/uniprotkb/Q9D1F4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1F4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1F4" } ] } ] } ], "record_id": "Q9D1F4-1" }, { "uniprot_canonical_ac": "Q9QXG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 701, "chemical_mass": 78862.0, "gene_names": "Acss2;1110017C11Rik;ACAS;ACS;Acas1;Acas2;AceCS1;Acecs1;Acs1;Acss2;aceCS", "protein_name": "Acetyl-coenzyme A synthetase, cytoplasmic", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "acetate-CoA ligase activity", "id": "GO:0003987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003987", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "propionate-CoA ligase activity", "id": "GO:0050218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050218", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "acetyl-CoA biosynthetic process", "id": "GO:0006085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006085", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "acetate biosynthetic process", "id": "GO:0019413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019413", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "propionate biosynthetic process", "id": "GO:0019542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019542", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXG4-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Ser263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" }, { "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": "Q9QXG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXG4" }, { "database": "PubMed", "id": "27180971", "url": "https://glygen.org/publication/PubMed/27180971" } ] } ] }, { "uniprot_canonical_ac": "Q9QXG4-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXG4" } ] } ] }, { "uniprot_canonical_ac": "Q9QXG4-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" }, { "database": "iPTMnet", "id": "Q9QXG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXG4" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q9QXG4-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXG4" } ] } ] }, { "uniprot_canonical_ac": "Q9QXG4-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXG4", "url": "https://www.uniprot.org/uniprotkb/Q9QXG4" } ] } ] } ], "record_id": "Q9QXG4-1" }, { "uniprot_canonical_ac": "Q3UGP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 55465.0, "gene_names": "Alg10b;Alg10;Alg10b;Alg10;Deaf1;Gm917;nse5", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase", "disease": [ { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050563", "evidence": [ { "id": "0050563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ], "weight": 0.0 }, { "disease_id": "DOID:0110645", "name": "long QT syndrome 2", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.", "url": "https://disease-ontology.org/term/DOID:0110645", "evidence": [ { "id": "0110645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110645" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity", "id": "GO:0106073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106073", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" } ], "biological_process": [ { "name": "dolichol-linked oligosaccharide biosynthetic process", "id": "GO:0006488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006488", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Phe159", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111634", "evidence": [ { "id": "rs3389376783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389376783" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Cys181", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111699", "evidence": [ { "id": "rs3389398377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389398377" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ile211", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111789", "evidence": [ { "id": "rs31942355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31942355" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Leu221", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111818", "evidence": [ { "id": "rs259077695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259077695" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ala222", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111822", "evidence": [ { "id": "rs3389334325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389334325" } ] }, { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111821", "evidence": [ { "id": "rs212677016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212677016" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111827", "evidence": [ { "id": "rs235336999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235336999" } ] }, { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111828", "evidence": [ { "id": "rs248491657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248491657" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Val240", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111875", "evidence": [ { "id": "rs31942357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31942357" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Thr255", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111921", "evidence": [ { "id": "rs3389362886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362886" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Leu260", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90111935", "evidence": [ { "id": "rs261979923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261979923" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ala2", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90108645", "evidence": [ { "id": "rs3406467814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406467814" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Val330", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112145", "evidence": [ { "id": "rs222111883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222111883" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Leu336", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112164", "evidence": [ { "id": "rs3389382241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382241" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Val338", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112169", "evidence": [ { "id": "rs31943147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31943147" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Tyr355", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112220", "evidence": [ { "id": "rs3406780470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406780470" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Phe357", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112228", "evidence": [ { "id": "rs3406511148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406511148" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112227", "evidence": [ { "id": "rs3389383214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383214" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112227", "evidence": [ { "id": "rs3389383214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383214" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Tyr358", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112229", "evidence": [ { "id": "rs3406137023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406137023" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ile394", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112337", "evidence": [ { "id": "rs31943149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31943149" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Leu414", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112397", "evidence": [ { "id": "rs3389389251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389251" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Met473", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "90112574", "evidence": [ { "id": "rs3389382302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382302" } ] } ] }, { "uniprot_canonical_ac": "Q3UGP8-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Leu389", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Significant hearing impairment, associated with loss or degeneration of cochlear outer hair cells.", "evidence": [ { "database": "UniProtKB", "id": "Q3UGP8", "url": "https://www.uniprot.org/uniprotkb/Q3UGP8" }, { "database": "PubMed", "id": "24303013", "url": "https://glygen.org/publication/PubMed/24303013" } ] } ] } ], "record_id": "Q3UGP8-1" }, { "uniprot_canonical_ac": "P70180-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 536, "chemical_mass": 59808.0, "gene_names": "Npr3;ANP-C;ANPR-C;EF-2;NPR-C;Npr3;lgj;stri", "protein_name": "Atrial natriuretic peptide receptor 3", "disease": [ { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "cGMP biosynthetic process", "id": "GO:0006182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006182", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase activity", "id": "GO:0007194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007194", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "osteoclast proliferation", "id": "GO:0002158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002158", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "regulation of osteoblast proliferation", "id": "GO:0033688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033688", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "positive regulation of pancreatic juice secretion", "id": "GO:0090187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090187", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "positive regulation of relaxation of smooth muscle", "id": "GO:1901082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901082", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "chloride ion binding", "id": "GO:0031404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031404", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "G protein-coupled peptide receptor activity", "id": "GO:0008528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008528", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "natriuretic peptide receptor activity", "id": "GO:0016941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016941", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" }, { "name": "receptor decoy activity", "id": "GO:0140319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140319", "evidence": [ { "database": "UniProtKB", "id": "P70180", "url": "https://www.uniprot.org/uniprotkb/P70180" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70180-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Asn288", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HGMTSGDYAFFNIELFNSSSYGDGSWRR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 288, "start_aa": "Asn", "end_pos": 288, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn288", "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" } ] }, { "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": 288, "start_aa": "Asn", "end_pos": 288, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn288", "evidence": [ { "id": "P70180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70180#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70180-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asn389", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IIQQTWNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 389, "start_aa": "Asn", "end_pos": 389, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn389", "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" } ] }, { "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": 389, "start_aa": "Asn", "end_pos": 389, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn389", "evidence": [ { "id": "P70180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70180#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70180-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "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": "SVEGNGTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "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" } ] }, { "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": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "evidence": [ { "id": "P70180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70180#ptm_processing" } ] } ] } ], "record_id": "P70180-1" }, { "uniprot_canonical_ac": "Q6P9J9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 911, "chemical_mass": 106255.0, "gene_names": "Ano6;2900059G15Rik;Ano6;F730003B03Rik;Tmem16f", "protein_name": "Anoctamin-6", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0111052", "name": "Scott syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111052", "evidence": [ { "id": "0111052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111052" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium-activated cation channel activity", "id": "GO:0005227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity", "id": "GO:0005244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of potassium ion export across plasma membrane", "id": "GO:1903766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903766", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "dendritic cell chemotaxis", "id": "GO:0002407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002407", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "activation of blood coagulation via clotting cascade", "id": "GO:0002543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002543", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "plasma membrane phospholipid scrambling", "id": "GO:0017121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017121", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "bleb assembly", "id": "GO:0032060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032060", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of monoatomic ion transmembrane transport", "id": "GO:0034767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034767", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "purinergic nucleotide receptor signaling pathway", "id": "GO:0035590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035590", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "bone mineralization involved in bone maturation", "id": "GO:0035630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035630", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "negative regulation of cell volume", "id": "GO:0045794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045794", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium activated phosphatidylserine scrambling", "id": "GO:0061589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061589", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium activated phosphatidylcholine scrambling", "id": "GO:0061590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061590", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium activated galactosylceramide scrambling", "id": "GO:0061591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061591", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "phosphatidylserine exposure on blood platelet", "id": "GO:0097045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097045", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane potential", "id": "GO:0060078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060078", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" }, { "name": "calcium activated phospholipid scrambling", "id": "GO:0061588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061588", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Asn330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Asn362", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNITCESSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8SUN&bu=0&command=select+.B:362;+center+selection;+zoom+selection" }, "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" }, { "id": "8SUN", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUN" }, { "id": "8SUN", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUN" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8TAG", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAG" }, { "id": "8TAG", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAG" }, { "id": "8TAI", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAI" }, { "id": "8TAI", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAI" }, { "id": "8TAL", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAL" }, { "id": "8TAL", "database": "PDB", "url": "https://www.rcsb.org/structure/8TAL" }, { "id": "8SUN|B|362", "database": "", "url": "" }, { "id": "8SUN|A|362", "database": "", "url": "" }, { "id": "8SUR|A|362", "database": "", "url": "" }, { "id": "8TAG|B|362", "database": "", "url": "" }, { "id": "8TAG|A|362", "database": "", "url": "" }, { "id": "8TAI|A|362", "database": "", "url": "" }, { "id": "8TAL|A|362", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Asn494", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPNGTDPIQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "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" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Asn778", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8SUR&bu=0&command=select+.A:778;+center+selection;+zoom+selection" }, "start_pos": 778, "start_aa": "Asn", "end_pos": 778, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn778", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8SUR|A|778", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Asn785", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8SUR&bu=0&command=select+.A:785;+center+selection;+zoom+selection" }, "start_pos": 785, "start_aa": "Asn", "end_pos": 785, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn785", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8SUR", "database": "PDB", "url": "https://www.rcsb.org/structure/8SUR" }, { "id": "8SUR|A|785", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "803", "end_pos": "803", "site_lbl": "Asn803", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENPYIGLGNYTLCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 803, "start_aa": "Asn", "end_pos": 803, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn803", "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" } ] }, { "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": 803, "start_aa": "Asn", "end_pos": 803, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn803", "evidence": [ { "id": "Q6P9J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ile260", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISC->NSC).", "chr_id": "15", "chr_pos": "95813862", "evidence": [ { "id": "rs243857213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243857213" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Lys370", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asp409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Increased speed of phospholipid scrambling.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "D", "sequence_mut": "G", "comment": "Reduced channel activity and sensitivity to Ca(2+).", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "23021219", "url": "https://glygen.org/publication/PubMed/23021219" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Arg478", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased lipid scramblase and ion channel activity. Requires lower calcium levels for activation of ion channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Phe518", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Increased speed of phospholipid scrambling. Constitutive scramblase activity at basal cytosolic calcium levels; when associated with A-563 and A-612.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "F", "sequence_mut": "E", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "F", "sequence_mut": "K", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "F", "sequence_mut": "L", "comment": "Decreased lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "F", "sequence_mut": "Q", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "F", "sequence_mut": "W", "comment": "Slightly increased lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ile521", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Does not induce a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] }, { "sequence_org": "I", "sequence_mut": "E", "comment": "Induces a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] }, { "sequence_org": "I", "sequence_mut": "K", "comment": "Induces a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Met522", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Induces a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Thr526", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Induces a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gln559", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Moderately decreased sensitivity to activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Slower channel activation. Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "23021219", "url": "https://glygen.org/publication/PubMed/23021219" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Tyr563", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Increased speed of phospholipid scrambling. Requires lower calcium levels for activation of scramblase and ion channel activity. Constitutive scramblase activity at basal cytosolic calcium levels; when associated with A-518 and A-612.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "Y", "sequence_mut": "K", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "Y", "sequence_mut": "Q", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "No effect on lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] }, { "sequence_org": "Y", "sequence_mut": "W", "comment": "Loss of lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ile611", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Induces a constitutive phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ile612", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Increased speed of phospholipid scrambling. Constitutive scramblase activity at basal cytosolic calcium levels; when associated with A-518 and A-563.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "I", "sequence_mut": "E", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "I", "sequence_mut": "K", "comment": "Constitutive phospholipid scramblase activity at basal cytosolic calcium levels.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] }, { "sequence_org": "I", "sequence_mut": "W", "comment": "Decreased lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Gly615", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Requires lower calcium levels for activation of scramblase and ion channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Gln623", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "F", "comment": "No effect on lipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Glu624", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Expected to disrupt calcium binding. Loss of scramblase and ion channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Glu667", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Requires much higher calcium levels for the activation of scramblase and ion channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "23021219", "url": "https://glygen.org/publication/PubMed/23021219" }, { "database": "PubMed", "id": "30785399", "url": "https://glygen.org/publication/PubMed/30785399" } ] } ] }, { "uniprot_canonical_ac": "Q6P9J9-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Asp703", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "R", "comment": "Expected to disrupt calcium binding. Loss of scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P9J9", "url": "https://www.uniprot.org/uniprotkb/Q6P9J9" }, { "database": "PubMed", "id": "31015464", "url": "https://glygen.org/publication/PubMed/31015464" } ] } ] } ], "record_id": "Q6P9J9-1" }, { "uniprot_canonical_ac": "Q01341-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1165, "chemical_mass": 130319.0, "gene_names": "Adcy6", "protein_name": "Adenylate cyclase type 6", "disease": [ { "disease_id": "DOID:0060558", "name": "lethal congenital contracture syndrome", "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.", "url": "https://disease-ontology.org/term/DOID:0060558", "evidence": [ { "id": "0060558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060558" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 } ], "biological_process": [ { "name": "renal water homeostasis", "id": "GO:0003091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003091", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "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": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "negative regulation of urine volume", "id": "GO:0035811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035811", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cellular response to catecholamine stimulus", "id": "GO:0071870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071870", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cellular response to vasopressin", "id": "GO:1904117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904117", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "maintenance of protein location in plasma membrane", "id": "GO:0072660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072660", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "adenylate cyclase-activating serotonin receptor signaling pathway", "id": "GO:0007192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007192", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "calcium- and calmodulin-responsive adenylate cyclase activity", "id": "GO:0008294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008294", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01341-1", "start_pos": "1109", "end_pos": "1109", "site_lbl": "Asn1109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63136LV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KPQYDIWGNTVNVSSRMDSTGVPDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1109, "start_aa": "Asn", "end_pos": 1109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1109", "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": "Q01341-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 277, "start_aa": "Asn", "end_pos": 277, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn277", "evidence": [ { "id": "Q01341", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01341#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Thr55", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Asn790", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 790, "start_aa": "Asn", "end_pos": 790, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn790", "evidence": [ { "id": "Q01341", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01341#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Asn875", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 875, "start_aa": "Asn", "end_pos": 875, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn875", "evidence": [ { "id": "Q01341", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01341#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ser553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01341" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ] } ] }, { "uniprot_canonical_ac": "Q01341-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Thr916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01341", "url": "https://www.uniprot.org/uniprotkb/Q01341" } ] } ] } ], "record_id": "Q01341-1" }, { "uniprot_canonical_ac": "P58742-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 546, "chemical_mass": 59431.0, "gene_names": "Aaas;AAA;ADRACALA;Aaas;D030041N15Rik;GL003", "protein_name": "Aladin", "disease": [ { "disease_id": "DOID:0050602", "name": "triple-A syndrome", "description": "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.", "url": "https://disease-ontology.org/term/DOID:0050602", "evidence": [ { "id": "0050602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050602" } ], "weight": 0.0 }, { "disease_id": "DOID:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58742-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" } ] } ] }, { "uniprot_canonical_ac": "P58742-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Ser495", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58742", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58742" } ] } ] }, { "uniprot_canonical_ac": "P58742-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58742", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58742" } ] } ] }, { "uniprot_canonical_ac": "P58742-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58742", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58742" } ] } ] }, { "uniprot_canonical_ac": "P58742-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Ser525", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58742", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58742" } ] } ] }, { "uniprot_canonical_ac": "P58742-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58742", "url": "https://www.uniprot.org/uniprotkb/P58742" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58742", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58742" } ] } ] } ], "record_id": "P58742-1" }, { "uniprot_canonical_ac": "Q99KI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 780, "chemical_mass": 85464.0, "gene_names": "Aco2;Aco-2;Aco2;Aco3;D10Wsu183e;Irp1", "protein_name": "Aconitate hydratase, mitochondrial", "disease": [ { "disease_id": "DOID:0050883", "name": "infantile cerebellar-retinal degeneration", "description": "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.", "url": "https://disease-ontology.org/term/DOID:0050883", "evidence": [ { "id": "0050883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050883" } ], "weight": 0.0 }, { "disease_id": "DOID:0111442", "name": "optic atrophy 9", "description": "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.", "url": "https://disease-ontology.org/term/DOID:0111442", "evidence": [ { "id": "0111442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111442" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:1891", "name": "optic nerve disease", "description": "A cranial nerve disease that is located_in the optic nerve.", "url": "https://disease-ontology.org/term/DOID:1891", "evidence": [ { "id": "1891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1891" } ], "weight": 0.0 }, { "disease_id": "DOID:331", "name": "central nervous system disease", "description": "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.", "url": "https://disease-ontology.org/term/DOID:331", "evidence": [ { "id": "331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:331" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "aconitate hydratase activity", "id": "GO:0003994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003994", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "3 iron, 4 sulfur cluster binding", "id": "GO:0051538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051538", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "iron-sulfur cluster binding", "id": "GO:0051536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051536", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "citrate metabolic process", "id": "GO:0006101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006101", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" }, { "name": "isocitrate metabolic process", "id": "GO:0006102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006102", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99KI0-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Asn612", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 612, "start_aa": "Asn", "end_pos": 612, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "32839225", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32839225" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q99KI0-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ser559", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" } ] } ] }, { "uniprot_canonical_ac": "Q99KI0-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KI0", "url": "https://www.uniprot.org/uniprotkb/Q99KI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99KI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KI0" } ] } ] }, { "uniprot_canonical_ac": "Q99KI0-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Thr293", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "15", "chr_pos": "81789006", "evidence": [ { "id": "rs3389346167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389346167" } ] } ] } ], "record_id": "Q99KI0-1" }, { "uniprot_canonical_ac": "Q8C0J2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 607, "chemical_mass": 68172.0, "gene_names": "Atg16l1;1500009K01Rik;Apg16l;Atg16l1;Atg16l;WDR30", "protein_name": "Autophagy-related protein 16-1", "disease": [ { "disease_id": "DOID:0110885", "name": "inflammatory bowel disease 10", "description": "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110885", "evidence": [ { "id": "0110885", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110885" } ], "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": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "endolysosome membrane", "id": "GO:0036020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036020", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "Atg12-Atg5-Atg16 complex", "id": "GO:0034274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034274", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "vacuole-isolation membrane contact site", "id": "GO:0120095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120095", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "negative stranded viral RNA replication", "id": "GO:0039689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039689", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "dendrite arborization", "id": "GO:0140059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140059", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "protein lipidation involved in autophagosome assembly", "id": "GO:0061739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061739", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "xenophagy", "id": "GO:0098792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098792", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "C-terminal protein lipidation", "id": "GO:0006501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006501", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "corpus callosum development", "id": "GO:0022038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022038", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "negative regulation of dendrite extension", "id": "GO:1903860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903860", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "microautophagy", "id": "GO:0016237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016237", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" } ] } ] }, { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0J2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0J2" } ] } ] }, { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8C0J2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0J2" }, { "database": "PubMed", "id": "28082356", "url": "https://glygen.org/publication/PubMed/28082356" } ] } ] }, { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ser287", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0J2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0J2" } ] } ] }, { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Asp299", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Prevents cleavage by activated CASP3.", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" }, { "database": "PubMed", "id": "24553140", "url": "https://glygen.org/publication/PubMed/24553140" } ] } ] }, { "uniprot_canonical_ac": "Q8C0J2-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Thr300", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on the stability of the protein under normal conditions. Enhances cleavage and degradation mediated by activated CASP3 and CASP7. Results in reduced autophagy and defective clearance of intestinal pathogens. Increases secretion of pro-inflammatory cytokine IL1B and type IIFN.", "evidence": [ { "database": "UniProtKB", "id": "Q8C0J2", "url": "https://www.uniprot.org/uniprotkb/Q8C0J2" }, { "database": "PubMed", "id": "24821797", "url": "https://glygen.org/publication/PubMed/24821797" }, { "database": "PubMed", "id": "24553140", "url": "https://glygen.org/publication/PubMed/24553140" } ] } ] } ], "record_id": "Q8C0J2-1" }, { "uniprot_canonical_ac": "O70302-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 24669.0, "gene_names": "Cidea;Cidea", "protein_name": "Lipid transferase CIDEA", "disease": [ { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to cold", "id": "GO:0070417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070417", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "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": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "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": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "regulation of apoptotic DNA fragmentation", "id": "GO:1902510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902510", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "negative regulation of execution phase of apoptosis", "id": "GO:1900118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900118", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "lipid droplet fusion", "id": "GO:0160077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160077", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" }, { "name": "lipid transfer activity", "id": "GO:0120013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120013", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70302-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Lys23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Substantial reduction in nuclear localization and loss of XDH induction; when associated with A-24.", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" }, { "database": "PubMed", "id": "22245780", "url": "https://glygen.org/publication/PubMed/22245780" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" }, { "database": "PubMed", "id": "22245780", "url": "https://glygen.org/publication/PubMed/22245780" } ] } ] }, { "uniprot_canonical_ac": "O70302-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Lys24", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Substantial reduction in nuclear localization and loss of XDH induction; when associated with A-23.", "evidence": [ { "database": "UniProtKB", "id": "O70302", "url": "https://www.uniprot.org/uniprotkb/O70302" }, { "database": "PubMed", "id": "22245780", "url": "https://glygen.org/publication/PubMed/22245780" } ] } ] } ], "record_id": "O70302-1" }, { "uniprot_canonical_ac": "Q3UHD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1582, "chemical_mass": 173297.0, "gene_names": "Adgrb1;Adgrb1;B830018M07Rik;Bai1;mKIAA4089", "protein_name": "Adhesion G protein-coupled receptor B1", "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "positive regulation of myoblast fusion", "id": "GO:1901741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901741", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Asn401", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 401, "start_aa": "Asn", "end_pos": 401, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn401", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Trp415", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "C-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7R86&bu=0&command=select+.D:7;+center+selection;+zoom+selection" }, "start_pos": 415, "start_aa": "Trp", "end_pos": 415, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp415", "evidence": [ { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R86|D|7", "database": "", "url": "" }, { "id": "7R86|C|7", "database": "", "url": "" }, { "id": "7R84|D|7", "database": "", "url": "" }, { "id": "7R84|C|7", "database": "", "url": "" }, { "id": "7R84|B|7", "database": "", "url": "" }, { "id": "7R84|A|7", "database": "", "url": "" }, { "id": "7R85|A|7", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Trp418", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "C-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "W", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7R86&bu=0&command=select+.D:10;+center+selection;+zoom+selection" }, "start_pos": 418, "start_aa": "Trp", "end_pos": 418, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp418", "evidence": [ { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R86|D|10", "database": "", "url": "" }, { "id": "7R86|C|10", "database": "", "url": "" }, { "id": "7R84|D|10", "database": "", "url": "" }, { "id": "7R84|C|10", "database": "", "url": "" }, { "id": "7R84|B|10", "database": "", "url": "" }, { "id": "7R84|A|10", "database": "", "url": "" }, { "id": "7R85|A|10", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Thr424", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36855WW", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7R86&bu=0&command=select+.D:16;+center+selection;+zoom+selection" }, "start_pos": 424, "start_aa": "Thr", "end_pos": 424, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr424", "evidence": [ { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R86", "database": "PDB", "url": "https://www.rcsb.org/structure/7R86" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R84", "database": "PDB", "url": "https://www.rcsb.org/structure/7R84" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R85", "database": "PDB", "url": "https://www.rcsb.org/structure/7R85" }, { "id": "7R86|D|16", "database": "", "url": "" }, { "id": "7R86|C|16", "database": "", "url": "" }, { "id": "7R84|D|16", "database": "", "url": "" }, { "id": "7R84|C|16", "database": "", "url": "" }, { "id": "7R84|B|16", "database": "", "url": "" }, { "id": "7R84|A|16", "database": "", "url": "" }, { "id": "7R85|A|16", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Asn607", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NATGLILR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 607, "start_aa": "Asn", "end_pos": 607, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn607", "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" } ] }, { "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": 607, "start_aa": "Asn", "end_pos": 607, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn607", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Asn64", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FFGYFSAAAVFPANASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "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" } ] }, { "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": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Asn692", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NMTEIFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 692, "start_aa": "Asn", "end_pos": 692, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn692", "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" } ] }, { "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": 692, "start_aa": "Asn", "end_pos": 692, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn692", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NMT->IMT).", "chr_id": "15", "chr_pos": "74415496", "evidence": [ { "id": "rs3389368097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368097" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Thr705", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 705, "start_aa": "Thr", "end_pos": 705, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr705", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "844", "end_pos": "844", "site_lbl": "Asn844", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42124LM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NTTVLNSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 844, "start_aa": "Asn", "end_pos": 844, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn844", "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" } ] }, { "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": 844, "start_aa": "Asn", "end_pos": 844, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn844", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Asn877", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 877, "start_aa": "Asn", "end_pos": 877, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn877", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Asn881", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 881, "start_aa": "Asn", "end_pos": 881, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn881", "evidence": [ { "id": "Q3UHD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->DQT).", "chr_id": "15", "chr_pos": "74421872", "evidence": [ { "id": "rs3406294516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406294516" } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->IQT).", "chr_id": "15", "chr_pos": "74421873", "evidence": [ { "id": "rs3389362264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362264" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Ser1467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD1" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Thr609", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD1", "url": "https://www.uniprot.org/uniprotkb/Q3UHD1" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD1-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Gly836", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "15", "chr_pos": "74420174", "evidence": [ { "id": "rs241313080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241313080" } ] } ] } ], "record_id": "Q3UHD1-1" }, { "uniprot_canonical_ac": "Q60823-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 55742.0, "gene_names": "Akt2;2410016A19Rik;Akt2;PKBbeta;PKB", "protein_name": "RAC-beta serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:0112263", "name": "hypoinsulinemic hypoglycemia with hemihypertrophy", "description": "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0112263", "evidence": [ { "id": "0112263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112263" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "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: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: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "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: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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "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": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "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": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of glucose metabolic process", "id": "GO:0010907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010907", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "negative regulation of long-chain fatty acid import across plasma membrane", "id": "GO:0010748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010748", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "cellular response to high light intensity", "id": "GO:0071486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071486", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "retinal rod cell apoptotic process", "id": "GO:0097473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097473", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "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": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of cap-dependent translational initiation", "id": "GO:1903676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903676", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "negative regulation of PERK-mediated unfolded protein response", "id": "GO:1903898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903898", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "negative regulation of RNA splicing", "id": "GO:0033119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033119", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60823-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 128, "start_aa": "Ser", "end_pos": 128, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser128", "evidence": [ { "id": "Q60823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60823#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 131, "start_aa": "Ser", "end_pos": 131, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser131", "evidence": [ { "id": "Q60823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60823#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Thr306", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 306, "start_aa": "Thr", "end_pos": 306, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr306", "evidence": [ { "id": "Q60823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60823#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Thr313", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 313, "start_aa": "Thr", "end_pos": 313, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr313", "evidence": [ { "id": "Q60823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60823#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ser474", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 474, "start_aa": "Ser", "end_pos": 474, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser474", "evidence": [ { "id": "Q60823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60823#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PRO", "id": "Q60823", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q60823" }, { "database": "iPTMnet", "id": "Q60823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60823" }, { "database": "PubMed", "id": "31548312", "url": "https://glygen.org/publication/PubMed/31548312" }, { "database": "PubMed", "id": "26866272", "url": "https://glygen.org/publication/PubMed/26866272" }, { "database": "PubMed", "id": "27251941", "url": "https://glygen.org/publication/PubMed/27251941" }, { "database": "PubMed", "id": "28102348", "url": "https://glygen.org/publication/PubMed/28102348" }, { "database": "PubMed", "id": "31270932", "url": "https://glygen.org/publication/PubMed/31270932" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation leading to decreased activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PubMed", "id": "31548312", "url": "https://glygen.org/publication/PubMed/31548312" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60823" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "iPTMnet", "id": "Q60823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60823" }, { "database": "PubMed", "id": "26100075", "url": "https://glygen.org/publication/PubMed/26100075" }, { "database": "PubMed", "id": "27251941", "url": "https://glygen.org/publication/PubMed/27251941" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Ser447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Thr451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60823" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Ser478", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation, promoting activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ] }, { "uniprot_canonical_ac": "Q60823-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Trp80", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolished inhibition by MK2206.", "evidence": [ { "database": "UniProtKB", "id": "Q60823", "url": "https://www.uniprot.org/uniprotkb/Q60823" }, { "database": "PubMed", "id": "31548312", "url": "https://glygen.org/publication/PubMed/31548312" } ] } ] } ], "record_id": "Q60823-1" }, { "uniprot_canonical_ac": "Q06649-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 62208.0, "gene_names": "Sh3bp2;3bp2", "protein_name": "SH3 domain-binding protein 2", "disease": [ { "disease_id": "DOID:1856", "name": "cherubism 1", "description": "A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:1856", "evidence": [ { "id": "1856", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1856" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q06649-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Tyr174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" }, { "database": "iPTMnet", "id": "Q06649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06649" }, { "database": "PubMed", "id": "12709437", "url": "https://glygen.org/publication/PubMed/12709437" } ] } ] }, { "uniprot_canonical_ac": "Q06649-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Tyr183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" }, { "database": "IntAct", "id": "Q06649", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q06649*" }, { "database": "iPTMnet", "id": "Q06649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06649" }, { "database": "PubMed", "id": "15751964", "url": "https://glygen.org/publication/PubMed/15751964" }, { "database": "PubMed", "id": "12709437", "url": "https://glygen.org/publication/PubMed/12709437" } ] } ] }, { "uniprot_canonical_ac": "Q06649-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ser277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q06649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06649" } ] } ] }, { "uniprot_canonical_ac": "Q06649-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ] } ] }, { "uniprot_canonical_ac": "Q06649-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ser425", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" } ] } ] }, { "uniprot_canonical_ac": "Q06649-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Tyr446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06649", "url": "https://www.uniprot.org/uniprotkb/Q06649" }, { "database": "IntAct", "id": "Q06649", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q06649*" }, { "database": "iPTMnet", "id": "Q06649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06649" }, { "database": "PubMed", "id": "15751964", "url": "https://glygen.org/publication/PubMed/15751964" }, { "database": "PubMed", "id": "12709437", "url": "https://glygen.org/publication/PubMed/12709437" } ] } ] } ], "record_id": "Q06649-1" }, { "uniprot_canonical_ac": "Q99MR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 46891.0, "gene_names": "Actl6b;Actl6b;Actl6;ArpNa;Arpna;Baf53b", "protein_name": "Actin-like protein 6B", "disease": [ { "disease_id": "DOID:0112212", "name": "developmental and epileptic encephalopathy 76", "description": "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.", "url": "https://disease-ontology.org/term/DOID:0112212", "evidence": [ { "id": "0112212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112212" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "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": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "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": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "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": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q99MR0", "url": "https://www.uniprot.org/uniprotkb/Q99MR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99MR0-1" }, { "uniprot_canonical_ac": "Q8K371-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 772, "chemical_mass": 85278.0, "gene_names": "Amotl2;Amotl2;Lccp;MASCOT;mKIAA0989", "protein_name": "Angiomotin-like protein 2", "disease": [], "biological_process": [ { "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": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "establishment of cell polarity involved in ameboidal cell migration", "id": "GO:0003365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003365", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K371-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asn24", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TLEDSSGTVLHRLIQEQLRYGNLTETR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 24, "start_aa": "Asn", "end_pos": 24, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn24", "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": "Q8K371-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Tyr107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with MAGI1 and ACTB. No effect on interaction with CDH5.", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" }, { "database": "PubMed", "id": "24806444", "url": "https://glygen.org/publication/PubMed/24806444" } ] } ] }, { "uniprot_canonical_ac": "Q8K371-1", "start_pos": "752", "end_pos": "752", "site_lbl": "Ser752", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K371" } ] } ] }, { "uniprot_canonical_ac": "Q8K371-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K371" } ] } ] }, { "uniprot_canonical_ac": "Q8K371-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Tyr214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on interaction with CDH5, MAGI1 and ACTB.", "evidence": [ { "database": "UniProtKB", "id": "Q8K371", "url": "https://www.uniprot.org/uniprotkb/Q8K371" }, { "database": "PubMed", "id": "24806444", "url": "https://glygen.org/publication/PubMed/24806444" } ] } ] } ], "record_id": "Q8K371-1" }, { "uniprot_canonical_ac": "Q9EQC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 369, "chemical_mass": 41135.0, "gene_names": "Hsd3b7;Hsd3b7", "protein_name": "3 beta-hydroxysteroid dehydrogenase type 7", "disease": [ { "disease_id": "DOID:0111071", "name": "congenital bile acid synthesis defect 1", "description": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.", "url": "https://disease-ontology.org/term/DOID:0111071", "evidence": [ { "id": "0111071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111071" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" }, { "name": "B cell chemotaxis", "id": "GO:0035754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035754", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" }, { "name": "cholesterol catabolic process", "id": "GO:0006707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006707", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" } ], "molecular_function": [ { "name": "cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity", "id": "GO:0047016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047016", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q9EQC1", "url": "https://www.uniprot.org/uniprotkb/Q9EQC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "102", "end_pos": "102", "site_lbl": "His102", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127400770", "evidence": [ { "id": "rs3388949090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388949090" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Val106", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127401081", "evidence": [ { "id": "rs864265716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864265716" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asp114", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127401025", "evidence": [ { "id": "rs225830658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225830658" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Tyr12", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127400286", "evidence": [ { "id": "rs3398475870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398475870" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Val133", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127401081", "evidence": [ { "id": "rs864265716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864265716" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Pro135", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127401086", "evidence": [ { "id": "rs3388950404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950404" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Arg218", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127401528", "evidence": [ { "id": "rs3388950768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950768" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ala219", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127402012", "evidence": [ { "id": "rs3388952353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952353" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ala250", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127402012", "evidence": [ { "id": "rs3388952353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952353" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Val313", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127402200", "evidence": [ { "id": "rs3388950349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950349" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Pro321", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127402225", "evidence": [ { "id": "rs3388950337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950337" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ala363", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127402350", "evidence": [ { "id": "rs258688504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258688504" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asp66", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127400663", "evidence": [ { "id": "rs3388952371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952371" } ] } ] }, { "uniprot_canonical_ac": "Q9EQC1-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Gln6", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "127400269", "evidence": [ { "id": "rs3546166256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546166256" } ] } ] } ], "record_id": "Q9EQC1-1" }, { "uniprot_canonical_ac": "Q8K4G5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 861, "chemical_mass": 96805.0, "gene_names": "Ablim1;2210411C18Rik;2610209L21Rik;4833406P10Rik;9330196J19Rik;Ablim1;Ablim;Kiaa0059;Limab1;mKIAA0059", "protein_name": "Actin-binding LIM protein 1", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Thr395", "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": 395, "start_aa": "Thr", "end_pos": 395, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr395", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Thr473", "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": 473, "start_aa": "Thr", "end_pos": 473, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr473", "evidence": [ { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q8K4G5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4G5" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Thr477", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 477, "start_aa": "Thr", "end_pos": 477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr477", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "57052211", "evidence": [ { "id": "rs3389548962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389548962" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ser494", "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": 494, "start_aa": "Ser", "end_pos": 494, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser494", "evidence": [ { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q8K4G5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4G5" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Thr495", "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": 495, "start_aa": "Thr", "end_pos": 495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "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": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q8K4G5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4G5" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Ser499", "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": 499, "start_aa": "Ser", "end_pos": 499, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser499", "evidence": [ { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q8K4G5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4G5" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "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": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Ser506", "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": 506, "start_aa": "Ser", "end_pos": 506, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser506", "evidence": [ { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q8K4G5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4G5" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "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": 729, "start_aa": "Ser", "end_pos": 729, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser729", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "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": 733, "start_aa": "Ser", "end_pos": 733, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser733", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Ser734", "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": 734, "start_aa": "Ser", "end_pos": 734, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser734", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8K4G5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4G5" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "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": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Tyr417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Tyr440", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Tyr483", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Ser582", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Ser671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Ser760", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4G5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4G5" } ] } ] }, { "uniprot_canonical_ac": "Q8K4G5-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Ser789", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4G5", "url": "https://www.uniprot.org/uniprotkb/Q8K4G5" } ] } ] } ], "record_id": "Q8K4G5-1" }, { "uniprot_canonical_ac": "Q3V140-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 540, "chemical_mass": 61141.0, "gene_names": "Acrbp;Acrbp;OY-TES-1;sp32", "protein_name": "Acrosin-binding protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" } ], "biological_process": [ { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "Q3V140", "url": "https://www.uniprot.org/uniprotkb/Q3V140" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V140-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 32, "start_aa": "Thr", "end_pos": 32, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr32", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "125027448", "evidence": [ { "id": "rs250998989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250998989" } ] } ] } ], "record_id": "Q3V140-1" }, { "uniprot_canonical_ac": "P41216-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 699, "chemical_mass": 77951.0, "gene_names": "Acsl1;Acas1;Acas;Acsl1;Acsl2;Acs;FACS;Facl2;LACS 1;LACS1", "protein_name": "Long-chain-fatty-acid--CoA ligase 1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "response to oleic acid", "id": "GO:0034201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034201", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA biosynthetic process", "id": "GO:0035338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035338", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "long-chain fatty acid import into cell", "id": "GO:0044539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044539", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "adiponectin-activated signaling pathway", "id": "GO:0033211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033211", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "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": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "positive regulation of long-chain fatty acid import across plasma membrane", "id": "GO:0010747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010747", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "arachidonate-CoA ligase activity", "id": "GO:0047676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047676", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "phytanate-CoA ligase activity", "id": "GO:0050197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050197", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "pristanate-CoA ligase activity", "id": "GO:0070251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070251", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "oleoyl-CoA ligase activity", "id": "GO:0090434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090434", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "palmitoyl-CoA ligase activity", "id": "GO:0090433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090433", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P41216-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 136, "start_aa": "Ser", "end_pos": 136, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser136", "evidence": [ { "id": "P41216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41216#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41216-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Asn548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WLPNGTLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "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": "P41216-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ser621", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" }, { "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": "P41216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41216" } ] } ] }, { "uniprot_canonical_ac": "P41216-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Tyr85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P41216", "url": "https://www.uniprot.org/uniprotkb/P41216" } ] } ] }, { "uniprot_canonical_ac": "P41216-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Phe517", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVF->NVS).", "chr_id": "8", "chr_pos": "46984032", "evidence": [ { "id": "rs13463502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13463502" } ] } ] } ], "record_id": "P41216-1" }, { "uniprot_canonical_ac": "Q8K209-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 687, "chemical_mass": 77255.0, "gene_names": "Adgrg1;Adgrg1;Cyt28;Gpr56;TM7LN4;TM7XN1", "protein_name": "Adhesion G protein-coupled receptor G1", "disease": [ { "disease_id": "DOID:0080922", "name": "complex cortical dysplasia with other brain malformations 14A", "description": "A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0080922", "evidence": [ { "id": "0080922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080922" } ], "weight": 0.0 }, { "disease_id": "DOID:0080924", "name": "complex cortical dysplasia with other brain malformations 14B", "description": "A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0080924", "evidence": [ { "id": "0080924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080924" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "cerebral cortex regionalization", "id": "GO:0021796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021796", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "cerebral cortex radial glia-guided migration", "id": "GO:0021801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021801", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900748", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "regulation of platelet aggregation", "id": "GO:0090330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090330", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "regulation of synapse pruning", "id": "GO:1905806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "oligodendrocyte progenitor proliferation", "id": "GO:0070444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070444", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "Rho-activating G protein-coupled receptor signaling pathway", "id": "GO:0160221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160221", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" }, { "name": "glial limiting end-foot", "id": "GO:0097451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097451", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Asn148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2362", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2362" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2362", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2362" } ] }, { "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": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Asn171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VSHNASVDMCDLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 171, "start_aa": "Asn", "end_pos": 171, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn171", "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" } ] }, { "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": 171, "start_aa": "Asn", "end_pos": 171, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn171", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->IAS).", "chr_id": "8", "chr_pos": "95731866", "evidence": [ { "id": "rs3388995829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995829" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asn234", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2362", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2362" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNATVWK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "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" } ] }, { "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": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Asn303", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLVVDFSSQALFQDKNSSQVLGEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 303, "start_aa": "Asn", "end_pos": 303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn303", "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" } ] }, { "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": 303, "start_aa": "Asn", "end_pos": 303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn303", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Asn324", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2362", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2362" } ] }, { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VTNLSDPVVLTFQHQPQPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "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" } ] }, { "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": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Asn341", "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": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5KVM&bu=0&command=select+.A:39;+center+selection;+zoom+selection" }, "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q8K209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K209#ptm_processing" }, { "id": "17576745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17576745" }, { "id": "27657451", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27657451" }, { "id": "5KVM", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KVM" }, { "id": "5KVM", "database": "PDB", "url": "https://www.rcsb.org/structure/5KVM" }, { "id": "5KVM", "database": "PDB", "url": "https://www.rcsb.org/structure/5KVM" }, { "id": "5KVM|A|39", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Cys121", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect ability to promote expression of myelin basic protein (mbp); when associated with S-177.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "27657451", "url": "https://glygen.org/publication/PubMed/27657451" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect ability to promote expression of myelin basic protein (mbp).", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "27657451", "url": "https://glygen.org/publication/PubMed/27657451" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Cys177", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect ability to promote expression of myelin basic protein (mbp); when associated with S-121.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "27657451", "url": "https://glygen.org/publication/PubMed/27657451" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Cys346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes proteolytic cleavage and cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Trp349", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "S", "comment": "Abolishes proteolytic cleavage and cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "381", "end_pos": "381", "site_lbl": "His381", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "S", "comment": "Impaired autoproteolytic processing without affecting localization to the cell membrane. Decreased ability to promote expression of myelin basic protein (mbp).", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "31628191", "url": "https://glygen.org/publication/PubMed/31628191" }, { "database": "PubMed", "id": "27657451", "url": "https://glygen.org/publication/PubMed/27657451" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Leu382", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired autoproteolytic processing without affection localization to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "31628191", "url": "https://glygen.org/publication/PubMed/31628191" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Arg38", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduced cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "22238662", "url": "https://glygen.org/publication/PubMed/22238662" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Reduced cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "22238662", "url": "https://glygen.org/publication/PubMed/22238662" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Tyr88", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Reduced cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "22238662", "url": "https://glygen.org/publication/PubMed/22238662" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "89", "end_pos": "89", "site_lbl": "His89", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased ability to promote expression of myelin basic protein (mbp).", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "27657451", "url": "https://glygen.org/publication/PubMed/27657451" } ] } ] }, { "uniprot_canonical_ac": "Q8K209-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Cys91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Reduced cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K209", "url": "https://www.uniprot.org/uniprotkb/Q8K209" }, { "database": "PubMed", "id": "22238662", "url": "https://glygen.org/publication/PubMed/22238662" }, { "database": "PubMed", "id": "17576745", "url": "https://glygen.org/publication/PubMed/17576745" } ] } ] } ], "record_id": "Q8K209-1" }, { "uniprot_canonical_ac": "Q8BL65-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 612, "chemical_mass": 68107.0, "gene_names": "Ablim2;Ablim2;C230091L11", "protein_name": "Actin-binding LIM protein 2", "disease": [], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Thr278", "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": 278, "start_aa": "Thr", "end_pos": 278, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr278", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ser279", "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": 279, "start_aa": "Ser", "end_pos": 279, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser279", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ser285", "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": 285, "start_aa": "Ser", "end_pos": 285, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser285", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "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": 290, "start_aa": "Ser", "end_pos": 290, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser290", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Thr363", "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": 363, "start_aa": "Thr", "end_pos": 363, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr363", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "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": 365, "start_aa": "Ser", "end_pos": 365, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser365", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "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": 373, "start_aa": "Ser", "end_pos": 373, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser373", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Thr378", "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": 378, "start_aa": "Thr", "end_pos": 378, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr378", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Thr380", "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": 380, "start_aa": "Thr", "end_pos": 380, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr380", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "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": 381, "start_aa": "Ser", "end_pos": 381, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser381", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "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": 402, "start_aa": "Ser", "end_pos": 402, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser402", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "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": 412, "start_aa": "Ser", "end_pos": 412, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser412", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BL65" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "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": 511, "start_aa": "Ser", "end_pos": 511, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser511", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BL65", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BL65", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BL65", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Ser453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Thr473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BL65", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ] } ] }, { "uniprot_canonical_ac": "Q8BL65-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ser579", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BL65", "url": "https://www.uniprot.org/uniprotkb/Q8BL65" } ] } ] } ], "record_id": "Q8BL65-1" }, { "uniprot_canonical_ac": "Q8VC66-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 615, "chemical_mass": 70956.0, "gene_names": "Ssx2ip;Adip;Ssx2ip", "protein_name": "Afadin- and alpha-actinin-binding protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "regulation of cell motility", "id": "GO:2000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000145", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "regulation of Rac protein signal transduction", "id": "GO:0035020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035020", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" }, { "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VC66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VC66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ] } ] }, { "uniprot_canonical_ac": "Q8VC66-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VC66", "url": "https://www.uniprot.org/uniprotkb/Q8VC66" } ] } ] } ], "record_id": "Q8VC66-1" }, { "uniprot_canonical_ac": "P59672-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1150, "chemical_mass": 125242.0, "gene_names": "Anks1a;Anks1;Anks1a;Anks1;Kiaa0229;Odin;mKIAA0229", "protein_name": "Ankyrin repeat and SAM domain-containing protein 1A", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" }, { "name": "substrate-dependent cell migration", "id": "GO:0006929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006929", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" } ], "molecular_function": [ { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59672-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Thr789", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 789, "start_aa": "Thr", "end_pos": 789, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr789", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Thr335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ser636", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Ser638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Ser640", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Ser642", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "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": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Ser644", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Ser663", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Ser679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Ser682", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" } ] } ] }, { "uniprot_canonical_ac": "P59672-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Ser903", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59672", "url": "https://www.uniprot.org/uniprotkb/P59672" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59672", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59672" } ] } ] } ], "record_id": "P59672-1" }, { "uniprot_canonical_ac": "Q6ZQK5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 770, "chemical_mass": 87211.0, "gene_names": "Acap2;4832442G16;9530039J15Rik;Acap2;CNT-B2;Centb2;Kiaa0041;mKIAA0041", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" }, { "name": "actin filament-based process", "id": "GO:0030029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030029", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Asn411", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VQCIPGNTSCCDCGLADPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 411, "start_aa": "Asn", "end_pos": 411, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn411", "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": "Q6ZQK5-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Asn553", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNDSGIQQCSEDGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 553, "start_aa": "Asn", "end_pos": 553, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn553", "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": "Q6ZQK5-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "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": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "database": "PRO", "id": "Q6ZQK5", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q6ZQK5" }, { "database": "iPTMnet", "id": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Ser576", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Tyr734", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q6ZQK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Ser767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQK5", "url": "https://www.uniprot.org/uniprotkb/Q6ZQK5" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQK5-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Lys515", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "16", "chr_pos": "30926948", "evidence": [ { "id": "rs3389404884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404884" } ] } ] } ], "record_id": "Q6ZQK5-1" }, { "uniprot_canonical_ac": "Q8K4J6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 964, "chemical_mass": 102546.0, "gene_names": "Mrtfa;AMKL;Bsac;Mal;Mkl1;Mrtf-A;Mrtfa", "protein_name": "Myocardin-related transcription factor A", "disease": [ { "disease_id": "DOID:0111998", "name": "immunodeficiency 66", "description": "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.", "url": "https://disease-ontology.org/term/DOID:0111998", "evidence": [ { "id": "0111998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111998" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "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": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell proliferation", "id": "GO:1904899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904899", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic structure", "id": "GO:0099159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099159", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell migration", "id": "GO:0061870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061870", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell contraction", "id": "GO:0061874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061874", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Thr345", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 345, "start_aa": "Thr", "end_pos": 345, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr345", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Thr360", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Thr434", "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": 434, "start_aa": "Thr", "end_pos": 434, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr434", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K4J6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Thr435", "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": 435, "start_aa": "Thr", "end_pos": 435, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr435", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K4J6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4J6" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K4J6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Thr494", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 494, "start_aa": "Thr", "end_pos": 494, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr494", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "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": 687, "start_aa": "Ser", "end_pos": 687, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser687", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K4J6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4J6" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Thr693", "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": 693, "start_aa": "Thr", "end_pos": 693, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr693", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K4J6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4J6" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K4J6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Ser487", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Thr488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Ser530", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Ser606", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Ser810", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Thr822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Ser826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Ser840", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Thr842", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Ser892", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "27304076", "url": "https://glygen.org/publication/PubMed/27304076" }, { "database": "iPTMnet", "id": "Q8K4J6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4J6" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Arg100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impaired interaction with G-actin, leading to cytoplasmic accumulation.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Arg112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "In 123-1A: Reduced interaction with G-actin, leading to a constitutively active SRF-MRTFA complex; when associated with A-24 and A-68.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "17588931", "url": "https://glygen.org/publication/PubMed/17588931" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Arg24", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "In 123-1A: Reduced interaction with G-actin, leading to a constitutively active SRF-MRTFA complex; when associated with A-68 and A-112.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "17588931", "url": "https://glygen.org/publication/PubMed/17588931" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Phe45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "F", "sequence_mut": "D", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Gln48", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "Q", "sequence_mut": "D", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Leu52", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "L", "sequence_mut": "D", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Arg54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impaired interaction with G-actin, leading to nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Arg56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impaired interaction with G-actin, leading to nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Arg68", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "In 123-1A: Reduced interaction with G-actin, leading to a constitutively active SRF-MRTFA complex; when associated with A-24 and A-112.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "17588931", "url": "https://glygen.org/publication/PubMed/17588931" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Leu89", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Does not induce a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "L", "sequence_mut": "D", "comment": "Does not induce a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Lys92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Does not induce a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "K", "sequence_mut": "D", "comment": "Does not induce a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Leu96", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Induces a nuclear accumulation in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] }, { "sequence_org": "L", "sequence_mut": "D", "comment": "Induces a nuclear decrease in unstimulated cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] }, { "uniprot_canonical_ac": "Q8K4J6-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Arg98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impaired interaction with G-actin, leading to cytoplasmic accumulation.", "evidence": [ { "database": "UniProtKB", "id": "Q8K4J6", "url": "https://www.uniprot.org/uniprotkb/Q8K4J6" }, { "database": "PubMed", "id": "21673315", "url": "https://glygen.org/publication/PubMed/21673315" } ] } ] } ], "record_id": "Q8K4J6-1" }, { "uniprot_canonical_ac": "Q9Z1K7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2274, "chemical_mass": 243139.0, "gene_names": "Apc2", "protein_name": "Adenomatous polyposis coli protein 2", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0061143", "name": "complex cortical dysplasia with other brain malformations 10", "description": "A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0061143", "evidence": [ { "id": "0061143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061143" } ], "weight": 0.0 }, { "disease_id": "DOID:0080409", "name": "familial adenomatous polyposis 1", "description": "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.", "url": "https://disease-ontology.org/term/DOID:0080409", "evidence": [ { "id": "0080409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080409" } ], "weight": 0.0 }, { "disease_id": "DOID:0081218", "name": "autosomal recessive intellectual developmental disorder 74", "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.", "url": "https://disease-ontology.org/term/DOID:0081218", "evidence": [ { "id": "0081218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081218" } ], "weight": 0.0 }, { "disease_id": "DOID:0112104", "name": "Sotos syndrome 3", "description": "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112104", "evidence": [ { "id": "0112104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112104" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "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": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "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": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "lamellipodium membrane", "id": "GO:0031258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031258", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "plasma membrane bounded cell projection", "id": "GO:0120025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" }, { "name": "gamma-catenin binding", "id": "GO:0045295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045295", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Thr1133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1133, "start_aa": "Thr", "end_pos": 1133, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1133", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1346", "end_pos": "1346", "site_lbl": "Ser1346", "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": 1346, "start_aa": "Ser", "end_pos": 1346, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1346", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1K7" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1465", "end_pos": "1465", "site_lbl": "Ser1465", "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": 1465, "start_aa": "Ser", "end_pos": 1465, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1465", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1K7" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1834", "end_pos": "1834", "site_lbl": "Thr1834", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1834, "start_aa": "Thr", "end_pos": 1834, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1834", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1933", "end_pos": "1933", "site_lbl": "Thr1933", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1933, "start_aa": "Thr", "end_pos": 1933, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1933", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "2089", "end_pos": "2089", "site_lbl": "Thr2089", "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": 2089, "start_aa": "Thr", "end_pos": 2089, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2089", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z1K7" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "2090", "end_pos": "2090", "site_lbl": "Thr2090", "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": 2090, "start_aa": "Thr", "end_pos": 2090, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2090", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1K7" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z1K7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "2093", "end_pos": "2093", "site_lbl": "Asn2093", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SDSAVSVPTTQANATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2093, "start_aa": "Asn", "end_pos": 2093, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2093", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "10", "chr_pos": "80151312", "evidence": [ { "id": "rs3389115988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389115988" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Asn552", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SVLSALWNLSAHSTENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 552, "start_aa": "Asn", "end_pos": 552, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "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": "Q9Z1K7-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Asn599", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70619PT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSSLIATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 599, "start_aa": "Asn", "end_pos": 599, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn599", "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": "Q9Z1K7-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "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": 899, "start_aa": "Ser", "end_pos": 899, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser899", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9Z1K7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1K7" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Asn916", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AAHTSLSNDSLNSGSTSDGYCTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 916, "start_aa": "Asn", "end_pos": 916, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn916", "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": "Q9Z1K7-1", "start_pos": "1563", "end_pos": "1563", "site_lbl": "Ser1563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1K7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1565", "end_pos": "1565", "site_lbl": "Ser1565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1K7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1K7-1", "start_pos": "1861", "end_pos": "1861", "site_lbl": "Ser1861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1K7" } ] } ] } ], "record_id": "Q9Z1K7-1" }, { "uniprot_canonical_ac": "Q3TMQ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 144, "chemical_mass": 16425.0, "gene_names": "Ang4;Ang4;Raa4;Rnase5d", "protein_name": "Angiogenin-4", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060200", "name": "amyotrophic lateral sclerosis type 9", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.", "url": "https://disease-ontology.org/term/DOID:0060200", "evidence": [ { "id": "0060200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060200" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "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: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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: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: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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "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: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: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: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: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: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 } ], "biological_process": [ { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "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": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "RNA catabolic process", "id": "GO:0006401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006401", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "angiogenin-PRI complex", "id": "GO:0032311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032311", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TMQ6-1", "start_pos": "136", "end_pos": "136", "site_lbl": "His136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of ribonuclease activity. Loss of angiogenic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" }, { "database": "PubMed", "id": "17279775", "url": "https://glygen.org/publication/PubMed/17279775" } ] } ] }, { "uniprot_canonical_ac": "Q3TMQ6-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Glu139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of angiogenic activity. Increased ribonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" }, { "database": "PubMed", "id": "17279775", "url": "https://glygen.org/publication/PubMed/17279775" } ] } ] }, { "uniprot_canonical_ac": "Q3TMQ6-1", "start_pos": "36", "end_pos": "36", "site_lbl": "His36", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of ribonuclease activity. Loss of angiogenic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" }, { "database": "PubMed", "id": "17279775", "url": "https://glygen.org/publication/PubMed/17279775" } ] } ] }, { "uniprot_canonical_ac": "Q3TMQ6-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Arg56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of angiogenic activity. No effect on ribonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" }, { "database": "PubMed", "id": "17279775", "url": "https://glygen.org/publication/PubMed/17279775" } ] } ] }, { "uniprot_canonical_ac": "Q3TMQ6-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Lys83", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Loss of angiogenic activity. No effect on ribonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3TMQ6", "url": "https://www.uniprot.org/uniprotkb/Q3TMQ6" }, { "database": "PubMed", "id": "17279775", "url": "https://glygen.org/publication/PubMed/17279775" } ] } ] } ], "record_id": "Q3TMQ6-1" }, { "uniprot_canonical_ac": "Q8C2S7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 508, "chemical_mass": 55625.0, "gene_names": "Amigo3;Ali3;Amigo3;E430002N15Rik;Kiaa1851;ali3;mKIAA1851", "protein_name": "Amphoterin-induced protein 3", "disease": [ { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "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": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8C2S7", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asn107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEVLGHGAFTNASGLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "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" } ] }, { "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": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Asn272", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Asn301", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LFCNTSVPATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 301, "start_aa": "Asn", "end_pos": 301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn301", "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" } ] }, { "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": 301, "start_aa": "Asn", "end_pos": 301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn301", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Asn362", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G13193DT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LHHNQTLEYNVSVQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "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" } ] }, { "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": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Asn368", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G13193DT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LHHNQTLEYNVSVQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 368, "start_aa": "Asn", "end_pos": 368, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn368", "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" } ] }, { "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": 368, "start_aa": "Asn", "end_pos": 368, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn368", "evidence": [ { "id": "Q8C2S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C2S7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C2S7-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Arg471", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "9", "chr_pos": "107931989", "evidence": [ { "id": "rs3389071612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071612" } ] } ] } ], "record_id": "Q8C2S7-1" }, { "uniprot_canonical_ac": "Q99NH0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2603, "chemical_mass": 274213.0, "gene_names": "Ankrd17;4933425K22Rik;A130069E23Rik;A930008M01;Ankrd17;Foe;Gtar;Kiaa0697;Mask;mKIAA0697", "protein_name": "Ankyrin repeat domain-containing protein 17", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "blood vessel maturation", "id": "GO:0001955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001955", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "positive regulation of MDA-5 signaling pathway", "id": "GO:1900245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900245", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "positive regulation of RIG-I signaling pathway", "id": "GO:1900246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900246", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Thr1052", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1052, "start_aa": "Thr", "end_pos": 1052, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1052", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Asn1451", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G03238UC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NASILLEELDLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1451, "start_aa": "Asn", "end_pos": 1451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1451", "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": "Q99NH0-1", "start_pos": "1527", "end_pos": "1527", "site_lbl": "Thr1527", "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": 1527, "start_aa": "Thr", "end_pos": 1527, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1527", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1533", "end_pos": "1533", "site_lbl": "Thr1533", "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": 1533, "start_aa": "Thr", "end_pos": 1533, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1533", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1555", "end_pos": "1555", "site_lbl": "Asn1555", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RNNTITTTSSKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1555, "start_aa": "Asn", "end_pos": 1555, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1555", "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": "Q99NH0-1", "start_pos": "1603", "end_pos": "1603", "site_lbl": "Ser1603", "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": 1603, "start_aa": "Ser", "end_pos": 1603, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1603", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1640", "end_pos": "1640", "site_lbl": "Thr1640", "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": 1640, "start_aa": "Thr", "end_pos": 1640, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1640", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1642", "end_pos": "1642", "site_lbl": "Thr1642", "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": 1642, "start_aa": "Thr", "end_pos": 1642, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1642", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Ser1816", "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": 1816, "start_aa": "Ser", "end_pos": 1816, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1816", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1817", "end_pos": "1817", "site_lbl": "Ser1817", "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": 1817, "start_aa": "Ser", "end_pos": 1817, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1817", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1820", "end_pos": "1820", "site_lbl": "Thr1820", "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": 1820, "start_aa": "Thr", "end_pos": 1820, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1820", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1821", "end_pos": "1821", "site_lbl": "Thr1821", "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": 1821, "start_aa": "Thr", "end_pos": 1821, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1821", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1822", "end_pos": "1822", "site_lbl": "Thr1822", "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": 1822, "start_aa": "Thr", "end_pos": 1822, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1822", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1826", "end_pos": "1826", "site_lbl": "Ser1826", "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": 1826, "start_aa": "Ser", "end_pos": 1826, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1826", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1834", "end_pos": "1834", "site_lbl": "Thr1834", "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": 1834, "start_aa": "Thr", "end_pos": 1834, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1834", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1835", "end_pos": "1835", "site_lbl": "Thr1835", "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": 1835, "start_aa": "Thr", "end_pos": 1835, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1835", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Ser1839", "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": 1839, "start_aa": "Ser", "end_pos": 1839, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1839", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1840", "end_pos": "1840", "site_lbl": "Ser1840", "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": 1840, "start_aa": "Ser", "end_pos": 1840, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1840", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1841", "end_pos": "1841", "site_lbl": "Thr1841", "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": 1841, "start_aa": "Thr", "end_pos": 1841, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1841", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1842", "end_pos": "1842", "site_lbl": "Ser1842", "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": 1842, "start_aa": "Ser", "end_pos": 1842, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1842", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1844", "end_pos": "1844", "site_lbl": "Thr1844", "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": 1844, "start_aa": "Thr", "end_pos": 1844, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1844", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1846", "end_pos": "1846", "site_lbl": "Thr1846", "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": 1846, "start_aa": "Thr", "end_pos": 1846, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1846", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "90392133", "evidence": [ { "id": "rs3388769180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769180" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1849", "end_pos": "1849", "site_lbl": "Thr1849", "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": 1849, "start_aa": "Thr", "end_pos": 1849, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1849", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1854", "end_pos": "1854", "site_lbl": "Ser1854", "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": 1854, "start_aa": "Ser", "end_pos": 1854, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1854", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1997", "end_pos": "1997", "site_lbl": "Thr1997", "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": 1997, "start_aa": "Thr", "end_pos": 1997, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1997", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2001", "end_pos": "2001", "site_lbl": "Thr2001", "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": 2001, "start_aa": "Thr", "end_pos": 2001, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2001", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2002", "end_pos": "2002", "site_lbl": "Ser2002", "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": 2002, "start_aa": "Ser", "end_pos": 2002, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2002", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2003", "end_pos": "2003", "site_lbl": "Asn2003", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G52848YE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QLFVTVVKTSNATTTTVTTTASNNSTAPTNATYPMPTAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2003, "start_aa": "Asn", "end_pos": 2003, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2003", "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": "Q99NH0-1", "start_pos": "2005", "end_pos": "2005", "site_lbl": "Thr2005", "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": 2005, "start_aa": "Thr", "end_pos": 2005, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2005", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2006", "end_pos": "2006", "site_lbl": "Thr2006", "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": 2006, "start_aa": "Thr", "end_pos": 2006, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2006", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2007", "end_pos": "2007", "site_lbl": "Thr2007", "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": 2007, "start_aa": "Thr", "end_pos": 2007, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2007", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "90390897", "evidence": [ { "id": "rs258947587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258947587" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2008", "end_pos": "2008", "site_lbl": "Thr2008", "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": 2008, "start_aa": "Thr", "end_pos": 2008, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2008", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2010", "end_pos": "2010", "site_lbl": "Thr2010", "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": 2010, "start_aa": "Thr", "end_pos": 2010, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2010", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2011", "end_pos": "2011", "site_lbl": "Thr2011", "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": 2011, "start_aa": "Thr", "end_pos": 2011, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2011", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2012", "end_pos": "2012", "site_lbl": "Thr2012", "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": 2012, "start_aa": "Thr", "end_pos": 2012, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2012", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2014", "end_pos": "2014", "site_lbl": "Ser2014", "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": 2014, "start_aa": "Ser", "end_pos": 2014, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2014", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2017", "end_pos": "2017", "site_lbl": "Ser2017", "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": 2017, "start_aa": "Ser", "end_pos": 2017, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2017", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2018", "end_pos": "2018", "site_lbl": "Thr2018", "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": 2018, "start_aa": "Thr", "end_pos": 2018, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2018", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2037", "end_pos": "2037", "site_lbl": "Ser2037", "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": 2037, "start_aa": "Ser", "end_pos": 2037, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2037", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "90391556", "evidence": [ { "id": "rs3388754873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388754873" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2038", "end_pos": "2038", "site_lbl": "Ser2038", "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": 2038, "start_aa": "Ser", "end_pos": 2038, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2038", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "90391556", "evidence": [ { "id": "rs3388754873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388754873" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Ser2040", "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": 2040, "start_aa": "Ser", "end_pos": 2040, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2040", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2041", "end_pos": "2041", "site_lbl": "Ser2041", "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": 2041, "start_aa": "Ser", "end_pos": 2041, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2041", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2186", "end_pos": "2186", "site_lbl": "Thr2186", "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": 2186, "start_aa": "Thr", "end_pos": 2186, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2186", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2192", "end_pos": "2192", "site_lbl": "Ser2192", "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": 2192, "start_aa": "Ser", "end_pos": 2192, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2192", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2193", "end_pos": "2193", "site_lbl": "Ser2193", "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": 2193, "start_aa": "Ser", "end_pos": 2193, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2193", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2194", "end_pos": "2194", "site_lbl": "Ser2194", "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": 2194, "start_aa": "Ser", "end_pos": 2194, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2194", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2196", "end_pos": "2196", "site_lbl": "Ser2196", "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": 2196, "start_aa": "Ser", "end_pos": 2196, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2196", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2283", "end_pos": "2283", "site_lbl": "Ser2283", "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": 2283, "start_aa": "Ser", "end_pos": 2283, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2283", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "5", "chr_pos": "90378817", "evidence": [ { "id": "rs3388768175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388768175" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2298", "end_pos": "2298", "site_lbl": "Ser2298", "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": 2298, "start_aa": "Ser", "end_pos": 2298, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2298", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2328", "end_pos": "2328", "site_lbl": "Thr2328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2328, "start_aa": "Thr", "end_pos": 2328, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2328", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "5", "chr_pos": "90386974", "evidence": [ { "id": "rs3388758884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758884" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2363", "end_pos": "2363", "site_lbl": "Thr2363", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2363, "start_aa": "Thr", "end_pos": 2363, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2363", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2376", "end_pos": "2376", "site_lbl": "Ser2376", "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": 2376, "start_aa": "Ser", "end_pos": 2376, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2376", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2379", "end_pos": "2379", "site_lbl": "Thr2379", "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": 2379, "start_aa": "Thr", "end_pos": 2379, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2379", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2382", "end_pos": "2382", "site_lbl": "Ser2382", "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": 2382, "start_aa": "Ser", "end_pos": 2382, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2382", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2383", "end_pos": "2383", "site_lbl": "Ser2383", "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": 2383, "start_aa": "Ser", "end_pos": 2383, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2383", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2385", "end_pos": "2385", "site_lbl": "Ser2385", "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": 2385, "start_aa": "Ser", "end_pos": 2385, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2385", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2386", "end_pos": "2386", "site_lbl": "Asn2386", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QHFSPLSLLTPCSSASNESPAQSVSSGVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2386, "start_aa": "Asn", "end_pos": 2386, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2386", "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": "Q99NH0-1", "start_pos": "2388", "end_pos": "2388", "site_lbl": "Ser2388", "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": 2388, "start_aa": "Ser", "end_pos": 2388, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2388", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2438", "end_pos": "2438", "site_lbl": "Thr2438", "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": 2438, "start_aa": "Thr", "end_pos": 2438, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2438", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "5", "chr_pos": "90381855", "evidence": [ { "id": "rs3388751416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751416" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2441", "end_pos": "2441", "site_lbl": "Ser2441", "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": 2441, "start_aa": "Ser", "end_pos": 2441, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2441", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q99NH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99NH0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99NH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1453", "end_pos": "1453", "site_lbl": "Ser1453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1631", "end_pos": "1631", "site_lbl": "Ser1631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1692", "end_pos": "1692", "site_lbl": "Ser1692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1696", "end_pos": "1696", "site_lbl": "Ser1696", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1705", "end_pos": "1705", "site_lbl": "Ser1705", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2043", "end_pos": "2043", "site_lbl": "Ser2043", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "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": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2055", "end_pos": "2055", "site_lbl": "Ser2055", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2063", "end_pos": "2063", "site_lbl": "Ser2063", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2373", "end_pos": "2373", "site_lbl": "Ser2373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "2401", "end_pos": "2401", "site_lbl": "Ser2401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Ser799", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH0", "url": "https://www.uniprot.org/uniprotkb/Q99NH0" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1056", "end_pos": "1056", "site_lbl": "Ile1056", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IIS->NIS).", "chr_id": "5", "chr_pos": "90426157", "evidence": [ { "id": "rs3388741285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741285" } ] } ] }, { "uniprot_canonical_ac": "Q99NH0-1", "start_pos": "1531", "end_pos": "1531", "site_lbl": "Ser1531", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "5", "chr_pos": "90401771", "evidence": [ { "id": "rs3388741272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741272" } ] } ] } ], "record_id": "Q99NH0-1" }, { "uniprot_canonical_ac": "O54774-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1199, "chemical_mass": 135081.0, "gene_names": "Ap3d1;Ap3d1;Ap3d;Bolvr;mBLVR1;mh;mocha", "protein_name": "AP-3 complex subunit delta-1", "disease": [ { "disease_id": "DOID:0060539", "name": "Hermansky-Pudlak syndrome 1", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0060539", "evidence": [ { "id": "0060539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060539" } ], "weight": 0.0 }, { "disease_id": "DOID:0060540", "name": "Hermansky-Pudlak syndrome 2", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.", "url": "https://disease-ontology.org/term/DOID:0060540", "evidence": [ { "id": "0060540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060540" } ], "weight": 0.0 }, { "disease_id": "DOID:2223", "name": "platelet storage pool deficiency", "description": "", "url": "https://disease-ontology.org/term/DOID:2223", "evidence": [ { "id": "2223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2223" } ], "weight": 0.0 }, { "disease_id": "DOID:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", "url": "https://disease-ontology.org/term/DOID:3753", "evidence": [ { "id": "3753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ], "weight": 0.0 } ], "biological_process": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "synaptic vesicle budding from endosome", "id": "GO:0016182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016182", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "antigen processing and presentation, exogenous lipid antigen via MHC class Ib", "id": "GO:0048007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048007", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "anterograde synaptic vesicle transport", "id": "GO:0048490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048490", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "synaptic vesicle membrane organization", "id": "GO:0048499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048499", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "neurotransmitter receptor transport, postsynaptic endosome to lysosome", "id": "GO:0098943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098943", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "protein targeting to vacuole", "id": "GO:0006623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006623", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "synaptic vesicle coating", "id": "GO:0016183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016183", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "clathrin-coated vesicle cargo loading, AP-3-mediated", "id": "GO:0035654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035654", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "zinc ion import into lysosome", "id": "GO:0140916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140916", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "AP-3 adaptor complex", "id": "GO:0030123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030123", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "presynaptic endosome", "id": "GO:0098830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098830", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54774-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Ser632", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "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": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Ser634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ser636", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Ser688", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Ser754", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "758", "end_pos": "758", "site_lbl": "Thr758", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Ser760", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Ser784", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] }, { "uniprot_canonical_ac": "O54774-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprotkb/O54774" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54774", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54774" } ] } ] } ], "record_id": "O54774-1" }, { "uniprot_canonical_ac": "Q9ESC8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1160, "chemical_mass": 126639.0, "gene_names": "Aff4;AF5Q31;Aff4;Alf4;Laf4l;MCEF", "protein_name": "AF4/FMR2 family member 4", "disease": [ { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "super elongation complex", "id": "GO:0032783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032783", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "DNA-templated transcription elongation", "id": "GO:0006354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006354", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Thr", "end_pos": 523, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr523", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Asn783", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSGHKPSSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 783, "start_aa": "Asn", "end_pos": 783, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn783", "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": "Q9ESC8-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "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": 84, "start_aa": "Thr", "end_pos": 84, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q9ESC8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ESC8" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9ESC8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "1040", "end_pos": "1040", "site_lbl": "Ser1040", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Ser1052", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Ser1055", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Ser1059", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ser382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Ser482", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ser485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Thr669", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Ser675", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Ser701", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Tyr707", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Ser809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESC8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "831", "end_pos": "831", "site_lbl": "Ser831", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESC8", "url": "https://www.uniprot.org/uniprotkb/Q9ESC8" } ] } ] }, { "uniprot_canonical_ac": "Q9ESC8-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "11", "chr_pos": "53263538", "evidence": [ { "id": "rs3389161889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389161889" } ] } ] } ], "record_id": "Q9ESC8-1" }, { "uniprot_canonical_ac": "Q61288-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 502, "chemical_mass": 56519.0, "gene_names": "Acvrl1;Acvrl1;Acvrlk1;Alk-1;Alk1", "protein_name": "Activin receptor type-1-like", "disease": [ { "disease_id": "DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0060688", "evidence": [ { "id": "0060688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ], "weight": 0.0 }, { "disease_id": "DOID:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.", "url": "https://disease-ontology.org/term/DOID:11294", "evidence": [ { "id": "11294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ], "weight": 0.0 }, { "disease_id": "DOID:1270", "name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.", "url": "https://disease-ontology.org/term/DOID:1270", "evidence": [ { "id": "1270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of epithelial cell differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "dorsal aorta morphogenesis", "id": "GO:0035912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035912", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "lymphatic endothelial cell differentiation", "id": "GO:0060836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060836", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "venous blood vessel development", "id": "GO:0060841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060841", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "endothelial tube morphogenesis", "id": "GO:0061154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061154", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "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": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "positive regulation of bicellular tight junction assembly", "id": "GO:1903348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903348", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity", "id": "GO:0005024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005024", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "activin receptor activity, type I", "id": "GO:0016361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016361", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "activin binding", "id": "GO:0048185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048185", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" }, { "name": "BMP receptor complex", "id": "GO:0070724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070724", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61288-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asn32", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LVNCTCESPHCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2704", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2704" } ] }, { "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": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "evidence": [ { "id": "Q61288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61288#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61288-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Asn97", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "Q61288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61288#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61288-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q61288", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61288" } ] } ] }, { "uniprot_canonical_ac": "Q61288-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61288", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61288" } ] } ] }, { "uniprot_canonical_ac": "Q61288-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61288", "url": "https://www.uniprot.org/uniprotkb/Q61288" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61288", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61288" } ] } ] } ], "record_id": "Q61288-1" }, { "uniprot_canonical_ac": "Q811D2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1581, "chemical_mass": 180647.0, "gene_names": "Ankrd26;Kiaa1074", "protein_name": "Ankyrin repeat domain-containing protein 26", "disease": [ { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046621", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "regulation of fatty acid metabolic process", "id": "GO:0019217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019217", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "regulation of feeding behavior", "id": "GO:0060259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060259", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "negative regulation of multicellular organism growth", "id": "GO:0040015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040015", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "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": 521, "start_aa": "Ser", "end_pos": 521, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser521", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q811D2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q811D2" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "6", "chr_pos": "118512060", "evidence": [ { "id": "rs227310430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227310430" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q811D2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811D2" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811D2", "url": "https://www.uniprot.org/uniprotkb/Q811D2" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "6", "chr_pos": "118536251", "evidence": [ { "id": "rs31580309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31580309" } ] } ] }, { "uniprot_canonical_ac": "Q811D2-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Thr660", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "6", "chr_pos": "118506493", "evidence": [ { "id": "rs3388817743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817743" } ] } ] } ], "record_id": "Q811D2-1" }, { "uniprot_canonical_ac": "P60710-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 375, "chemical_mass": 41737.0, "gene_names": "Actb;Actb;Actx;E430023M04Rik;beta-actin", "protein_name": "Actin, cytoplasmic 1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "dense body", "id": "GO:0097433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097433", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "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": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "protein localization to adherens junction", "id": "GO:0071896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071896", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of double-strand break repair", "id": "GO:2000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000779", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of norepinephrine uptake", "id": "GO:0051621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051621", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "cellular response to cytochalasin B", "id": "GO:0072749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072749", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "regulation of transepithelial transport", "id": "GO:0150111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150111", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "Tat protein binding", "id": "GO:0030957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030957", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic actin cytoskeleton", "id": "GO:0098973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098973", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "nitric-oxide synthase regulator activity", "id": "GO:0030235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030235", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "transporter regulator activity", "id": "GO:0141108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141108", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P60710", "url": "https://www.uniprot.org/uniprotkb/P60710" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P60710-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Thr106", "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": 106, "start_aa": "Thr", "end_pos": 106, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr106", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G67153JX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGR", "relation": "attached", "comment": "reported site N15 is on non-canonical isoform E9Q606-1 which maps to canonical isoform site P60710-1:12", "icn3d_view": {}, "start_pos": 12, "start_aa": "Asn", "end_pos": 12, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn12", "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" } ] }, { "glytoucan_ac": "G88520YF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DDDIAALVVDNGSGMCKAGFAGDDAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 12, "start_aa": "Asn", "end_pos": 12, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn12", "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": "P60710-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "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": 199, "start_aa": "Ser", "end_pos": 199, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser199", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Thr201", "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": 201, "start_aa": "Thr", "end_pos": 201, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr201", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P60710", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P60710" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "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": 239, "start_aa": "Ser", "end_pos": 239, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser239", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ser271", "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": 271, "start_aa": "Ser", "end_pos": 271, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser271", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "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": 365, "start_aa": "Ser", "end_pos": 365, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser365", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Thr89", "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": 89, "start_aa": "Thr", "end_pos": 89, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr89", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P60710", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P60710" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Glu107", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891036", "evidence": [ { "id": "rs3388787749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388787749" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ala114", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891014", "evidence": [ { "id": "rs3388811805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811805" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Arg116", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891008", "evidence": [ { "id": "rs3388787764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388787764" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Thr126", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890524", "evidence": [ { "id": "rs3388806068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806068" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Thr129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890516", "evidence": [ { "id": "rs3543927195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543927195" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890524", "evidence": [ { "id": "rs3388806068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806068" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Gln137", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890491", "evidence": [ { "id": "rs3388803285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803285" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Gly13", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891405", "evidence": [ { "id": "rs3388776757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388776757" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Met153", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890442", "evidence": [ { "id": "rs3543894761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543894761" } ] }, { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890444", "evidence": [ { "id": "rs3544033983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544033983" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890423", "evidence": [ { "id": "rs3543884160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543884160" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ala170", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890392", "evidence": [ { "id": "rs3388806051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806051" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Arg177", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890371", "evidence": [ { "id": "rs3543880831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543880831" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ala181", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890359", "evidence": [ { "id": "rs3388807015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807015" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Arg183", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890353", "evidence": [ { "id": "rs3543895472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543895472" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Arg206", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890283", "evidence": [ { "id": "rs3543886134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543886134" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Arg210", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889937", "evidence": [ { "id": "rs3543916618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543916618" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ala220", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890242", "evidence": [ { "id": "rs3388807041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807041" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890207", "evidence": [ { "id": "rs3543993059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543993059" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890203", "evidence": [ { "id": "rs3388806026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806026" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Gly268", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142890003", "evidence": [ { "id": "rs3388807052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807052" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Pro27", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891363", "evidence": [ { "id": "rs3388808434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388808434" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Arg28", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891360", "evidence": [ { "id": "rs3388803251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803251" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Arg290", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889937", "evidence": [ { "id": "rs3543916618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543916618" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889917", "evidence": [ { "id": "rs13464828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464828" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Gly301", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889904", "evidence": [ { "id": "rs3388798357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388798357" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Val30", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891353", "evidence": [ { "id": "rs3388803272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803272" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889838", "evidence": [ { "id": "rs3388808495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388808495" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889678", "evidence": [ { "id": "rs3543880933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543880933" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889609", "evidence": [ { "id": "rs3543940100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543940100" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889608", "evidence": [ { "id": "rs3543894772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543894772" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Tyr362", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889595", "evidence": [ { "id": "rs3543886167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543886167" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889579", "evidence": [ { "id": "rs3543886121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543886121" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889578", "evidence": [ { "id": "rs3543895551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543895551" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Val370", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889573", "evidence": [ { "id": "rs13464829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464829" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Arg372", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142889566", "evidence": [ { "id": "rs3543915834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543915834" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Pro38", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891330", "evidence": [ { "id": "rs13464827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464827" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Asp4", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891432", "evidence": [ { "id": "rs3388776788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388776788" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891200", "evidence": [ { "id": "rs3543916474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543916474" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891201", "evidence": [ { "id": "rs3543925440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543925440" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891177", "evidence": [ { "id": "rs3543928622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543928622" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891176", "evidence": [ { "id": "rs3544034210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544034210" } ] } ] }, { "uniprot_canonical_ac": "P60710-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Tyr91", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "142891083", "evidence": [ { "id": "rs3388811842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811842" } ] } ] } ], "record_id": "P60710-1" }, { "uniprot_canonical_ac": "Q8BTI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTI7", "url": "https://www.uniprot.org/uniprotkb/Q8BTI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1076, "chemical_mass": 115032.0, "gene_names": "Ankrd52;6430544C07;Ankrd52;G431002C21Rik", "protein_name": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BTI7-1", "start_pos": "1028", "end_pos": "1028", "site_lbl": "Ser1028", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTI7", "url": "https://www.uniprot.org/uniprotkb/Q8BTI7" } ] } ] }, { "uniprot_canonical_ac": "Q8BTI7-1", "start_pos": "1075", "end_pos": "1075", "site_lbl": "Ser1075", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTI7", "url": "https://www.uniprot.org/uniprotkb/Q8BTI7" }, { "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": "Q8BTI7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTI7" } ] } ] } ], "record_id": "Q8BTI7-1" }, { "uniprot_canonical_ac": "P97783-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 90, "chemical_mass": 10029.0, "gene_names": "Mllt11;Af1q;Mllt11;Zfp692", "protein_name": "Protein AF1q", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "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": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial depolarization", "id": "GO:0051901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051901", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97783-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97783", "url": "https://www.uniprot.org/uniprotkb/P97783" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97783", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97783" } ] } ] } ], "record_id": "P97783-1" }, { "uniprot_canonical_ac": "Q01338-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 465, "chemical_mass": 50555.0, "gene_names": "Adra2a;Adra-2a;Adra-2;Adra2a;alpha(2A)AR;alpha2-C10;alpha2A-AR;alpha2A", "protein_name": "Alpha-2A adrenergic receptor", "disease": [ { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "dopaminergic synapse", "id": "GO:0098691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098691", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" } ], "biological_process": [ { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of membrane protein ectodomain proteolysis", "id": "GO:0051044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of norepinephrine secretion", "id": "GO:0010700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010700", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of calcium ion-dependent exocytosis", "id": "GO:0045955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045955", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0061179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061179", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "negative regulation of uterine smooth muscle contraction", "id": "GO:0070473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070473", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting adrenergic receptor signaling pathway", "id": "GO:0071881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071881", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "phospholipase C-activating adrenergic receptor signaling pathway", "id": "GO:0071882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071882", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "adrenergic receptor signaling pathway", "id": "GO:0071875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071875", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "fear response", "id": "GO:0042596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042596", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "thermoception", "id": "GO:0050955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050955", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "heterotrimeric G-protein binding", "id": "GO:0032795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032795", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "alpha2-adrenergic receptor activity", "id": "GO:0004938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004938", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "alpha-2C adrenergic receptor binding", "id": "GO:0031696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031696", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "thioesterase binding", "id": "GO:0031996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031996", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "epinephrine binding", "id": "GO:0051379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051379", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "norepinephrine binding", "id": "GO:0051380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051380", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" }, { "name": "adrenergic receptor activity", "id": "GO:0004935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004935", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01338-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "Q01338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01338#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01338-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Thr277", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 277, "start_aa": "Thr", "end_pos": 277, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr277", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "54035475", "evidence": [ { "id": "rs3554345230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554345230" } ] } ] }, { "uniprot_canonical_ac": "Q01338-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Asn29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 29, "start_aa": "Asn", "end_pos": 29, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn29", "evidence": [ { "id": "Q01338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01338#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01338-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Ser346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01338", "url": "https://www.uniprot.org/uniprotkb/Q01338" } ] } ] } ], "record_id": "Q01338-1" }, { "uniprot_canonical_ac": "Q3TTE0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 751, "chemical_mass": 84534.0, "gene_names": "Adam5;Adam5;Tmdc2;tMDC II;tMDCII", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 5", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" }, { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q3TTE0", "url": "https://www.uniprot.org/uniprotkb/Q3TTE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TTE0-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asn409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NCTHRKCCDPMSCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 409, "start_aa": "Asn", "end_pos": 409, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn409", "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": "Q3TTE0-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Lys581", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "8", "chr_pos": "25271663", "evidence": [ { "id": "rs3388979248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388979248" } ] } ] }, { "uniprot_canonical_ac": "Q3TTE0-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Asp729", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "8", "chr_pos": "25234135", "evidence": [ { "id": "rs50398546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50398546" } ] } ] } ], "record_id": "Q3TTE0-1" }, { "uniprot_canonical_ac": "Q3UHD9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1186, "chemical_mass": 124511.0, "gene_names": "Agap2;AGAP-2;Agap2;Centg1;Kiaa0167;PIKE;cnt-g1;mKIAA0167", "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "Flemming body", "id": "GO:0090543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090543", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulator activity", "id": "GO:0035014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035014", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "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": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "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": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "positive regulation of mammary gland epithelial cell proliferation", "id": "GO:0033601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033601", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" }, { "name": "cellular response to glycine", "id": "GO:1905430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905430", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "1164", "end_pos": "1164", "site_lbl": "Thr1164", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1164, "start_aa": "Thr", "end_pos": 1164, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1164", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "1182", "end_pos": "1182", "site_lbl": "Thr1182", "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": 1182, "start_aa": "Thr", "end_pos": 1182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1182", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHD9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "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": 233, "start_aa": "Ser", "end_pos": 233, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser233", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHD9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "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": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHD9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "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": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHD9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "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": 248, "start_aa": "Ser", "end_pos": 248, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser248", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHD9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Thr288", "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": 288, "start_aa": "Thr", "end_pos": 288, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr288", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHD9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHD9" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "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": 79, "start_aa": "Ser", "end_pos": 79, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser79", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHD9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHD9" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Ser1172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Ser632", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Ser744", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Ser802", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Ser921", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Ser979", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHD9", "url": "https://www.uniprot.org/uniprotkb/Q3UHD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHD9" } ] } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Lys654", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "10", "chr_pos": "126923129", "evidence": [ { "id": "rs3389128310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389128310" } ] } ] } ], "record_id": "Q3UHD9-1" }, { "uniprot_canonical_ac": "Q3UMR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1048, "chemical_mass": 116809.0, "gene_names": "Ankrd27;Ankrd27;D330003H11Rik;Varp", "protein_name": "Ankyrin repeat domain-containing protein 27", "disease": [ { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "tubular endosome", "id": "GO:0097422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097422", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "negative regulation of SNARE complex assembly", "id": "GO:0035544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035544", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Asn737", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07036HW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ISANGLSVNVTNQDGFSPLHMAALHGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 737, "start_aa": "Asn", "end_pos": 737, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn737", "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": "Q3UMR0-1", "start_pos": "1022", "end_pos": "1022", "site_lbl": "Thr1022", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "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": "Q3UMR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMR0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ser969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Asn530", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "7", "chr_pos": "35316324", "evidence": [ { "id": "rs3388889653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388889653" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Ala589", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "7", "chr_pos": "35318875", "evidence": [ { "id": "rs3388881095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881095" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asp310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Inhibits dendrite formation.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "22171327", "url": "https://glygen.org/publication/PubMed/22171327" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Tyr350", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Inhibits dendrite formation.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "22171327", "url": "https://glygen.org/publication/PubMed/22171327" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Gln509", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Disrupts interaction with RAB32 and RAB38; inhibits peripheral distribution of TYRP1 in melanocytes; no effect on dendrite formation in melanocytes.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "21187289", "url": "https://glygen.org/publication/PubMed/21187289" }, { "database": "PubMed", "id": "22171327", "url": "https://glygen.org/publication/PubMed/22171327" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Tyr550", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Disrupts interaction with RAB32 and RAB38; inhibits peripheral distribution of TYRP1 in melanocytes; no effect on dendrite formation in melanocytes.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "21187289", "url": "https://glygen.org/publication/PubMed/21187289" }, { "database": "PubMed", "id": "22171327", "url": "https://glygen.org/publication/PubMed/22171327" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Trp575", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs interaction with RAB32 and RAB38.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "21187289", "url": "https://glygen.org/publication/PubMed/21187289" } ] } ] }, { "uniprot_canonical_ac": "Q3UMR0-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Tyr577", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Impairs interaction with RAB32 and RAB38.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMR0", "url": "https://www.uniprot.org/uniprotkb/Q3UMR0" }, { "database": "PubMed", "id": "21187289", "url": "https://glygen.org/publication/PubMed/21187289" } ] } ] } ], "record_id": "Q3UMR0-1" }, { "uniprot_canonical_ac": "Q3V3Z3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 524, "chemical_mass": 58675.0, "gene_names": "Adgrg5;Adgrg5;Gm1109;Gpr114;PGR27;Pgr27", "protein_name": "Adhesion G protein-coupled receptor G5", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Asn169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 169, "start_aa": "Asn", "end_pos": 169, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn169", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Asn390", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 390, "start_aa": "Asn", "end_pos": 390, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn390", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Asn396", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 396, "start_aa": "Asn", "end_pos": 396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn396", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asn65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 65, "start_aa": "Asn", "end_pos": 65, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn65", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asn96", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "Q3V3Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVA).", "chr_id": "8", "chr_pos": "95660654", "evidence": [ { "id": "rs3389002624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002624" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Leu222", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "", "comment": "Drastic decrease in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Z3-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Gln230", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "C", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "D", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "E", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "F", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "G", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "H", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "I", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "No effect on basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "L", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "M", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "N", "comment": "No effect on basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "P", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "S", "comment": "No effect on basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "T", "comment": "Small reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "V", "comment": "Small reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "W", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] }, { "sequence_org": "Q", "sequence_mut": "Y", "comment": "Drastic reduction in basal cAMP production.", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Z3", "url": "https://www.uniprot.org/uniprotkb/Q3V3Z3" }, { "database": "PubMed", "id": "26499266", "url": "https://glygen.org/publication/PubMed/26499266" } ] } ] } ], "record_id": "Q3V3Z3-1" }, { "uniprot_canonical_ac": "Q60718-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 735, "chemical_mass": 82375.0, "gene_names": "Adam2;Adam2;Ftnb;Ph30-beta", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 2", "disease": [ { "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 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60718-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Asn128", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asn226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asn279", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Asn359", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 359, "start_aa": "Asn", "end_pos": 359, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn359", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "14", "chr_pos": "66288019", "evidence": [ { "id": "rs3389292197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292197" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Asn463", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 463, "start_aa": "Asn", "end_pos": 463, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn463", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Asn489", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 489, "start_aa": "Asn", "end_pos": 489, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn489", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Asn569", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 569, "start_aa": "Asn", "end_pos": 569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn569", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Asn585", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 585, "start_aa": "Asn", "end_pos": 585, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn585", "evidence": [ { "id": "Q60718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60718#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NES->SES).", "chr_id": "14", "chr_pos": "66274978", "evidence": [ { "id": "rs256042569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256042569" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60718", "url": "https://www.uniprot.org/uniprotkb/Q60718" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60718" } ] } ] }, { "uniprot_canonical_ac": "Q60718-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Asp421", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTC->NTC).", "chr_id": "14", "chr_pos": "66283640", "evidence": [ { "id": "rs1135047373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135047373" } ] } ] } ], "record_id": "Q60718-1" }, { "uniprot_canonical_ac": "Q80VW7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1404, "chemical_mass": 153123.0, "gene_names": "Akna;Akna;Kiaa1968", "protein_name": "Microtubule organization protein AKNA", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "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": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "neuroblast division in subventricular zone", "id": "GO:0021849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021849", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "delamination", "id": "GO:0060232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060232", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" }, { "name": "neuroblast delamination", "id": "GO:0060234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060234", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Thr1024", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1024, "start_aa": "Thr", "end_pos": 1024, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1024", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Thr1333", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1333, "start_aa": "Thr", "end_pos": 1333, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1333", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Thr529", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 529, "start_aa": "Thr", "end_pos": 529, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr529", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Thr734", "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": 734, "start_aa": "Thr", "end_pos": 734, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr734", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q80VW7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1144", "end_pos": "1144", "site_lbl": "Ser1144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80VW7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1145", "end_pos": "1145", "site_lbl": "Ser1145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80VW7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ser1200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1339", "end_pos": "1339", "site_lbl": "Ser1339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1352", "end_pos": "1352", "site_lbl": "Ser1352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "1389", "end_pos": "1389", "site_lbl": "Ser1389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ser485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80VW7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80VW7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Ser750", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "831", "end_pos": "831", "site_lbl": "Ser831", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Ser860", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "971", "end_pos": "971", "site_lbl": "Ser971", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VW7", "url": "https://www.uniprot.org/uniprotkb/Q80VW7" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "4", "chr_pos": "63316234", "evidence": [ { "id": "rs226610832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226610832" } ] } ] }, { "uniprot_canonical_ac": "Q80VW7-1", "start_pos": "963", "end_pos": "963", "site_lbl": "Ser963", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "4", "chr_pos": "63295978", "evidence": [ { "id": "rs233439511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233439511" } ] } ] } ], "record_id": "Q80VW7-1" }, { "uniprot_canonical_ac": "Q80ZF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1522, "chemical_mass": 171314.0, "gene_names": "Adgrb3;A830096D10Rik;Adgrb3;Bai3", "protein_name": "Adhesion G protein-coupled receptor B3", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "cerebellar climbing fiber to Purkinje cell synapse", "id": "GO:0150053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150053", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "motor learning", "id": "GO:0061743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061743", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" }, { "name": "regulation of synapse pruning", "id": "GO:1905806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KNHSIMQLCSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "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" } ] }, { "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": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "1399", "end_pos": "1399", "site_lbl": "Ser1399", "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": 1399, "start_aa": "Ser", "end_pos": 1399, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1399", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q80ZF8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80ZF8" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Asn241", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 241, "start_aa": "Asn", "end_pos": 241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn241", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Asn337", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 337, "start_aa": "Asn", "end_pos": 337, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn337", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Asn418", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G71784JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PCEGPETHHKPCNIALCPVDGQWQEWSSWSHCSVTCSNGTQQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 418, "start_aa": "Asn", "end_pos": 418, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn418", "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" } ] }, { "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": 418, "start_aa": "Asn", "end_pos": 418, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn418", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Asn51", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Asn540", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01650EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TPAGDLAFNQCPLNATGTTSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 540, "start_aa": "Asn", "end_pos": 540, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn540", "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" } ] }, { "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": 540, "start_aa": "Asn", "end_pos": 540, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn540", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Asn54", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 54, "start_aa": "Asn", "end_pos": 54, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn54", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Asn625", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTDTFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 625, "start_aa": "Asn", "end_pos": 625, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn625", "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" } ] }, { "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": 625, "start_aa": "Asn", "end_pos": 625, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn625", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Asn779", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 779, "start_aa": "Asn", "end_pos": 779, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn779", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2109", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2109" } ] }, { "glytoucan_ac": "G59924QI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NYTVVNSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 779, "start_aa": "Asn", "end_pos": 779, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn779", "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" } ] }, { "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": 779, "start_aa": "Asn", "end_pos": 779, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn779", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Asn812", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 812, "start_aa": "Asn", "end_pos": 812, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn812", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Asn828", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNESLGTWSTQGCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 828, "start_aa": "Asn", "end_pos": 828, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn828", "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" } ] }, { "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": 828, "start_aa": "Asn", "end_pos": 828, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn828", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Asn82", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 82, "start_aa": "Asn", "end_pos": 82, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn82", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "937", "end_pos": "937", "site_lbl": "Asn937", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 937, "start_aa": "Asn", "end_pos": 937, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn937", "evidence": [ { "id": "Q80ZF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Ser1220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80ZF8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80ZF8" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "1411", "end_pos": "1411", "site_lbl": "Ser1411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80ZF8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80ZF8" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Ser619", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZF8", "url": "https://www.uniprot.org/uniprotkb/Q80ZF8" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ala340", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "1", "chr_pos": "25592768", "evidence": [ { "id": "rs3389763473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389763473" } ] } ] }, { "uniprot_canonical_ac": "Q80ZF8-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Phe646", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFF->NFC).", "chr_id": "1", "chr_pos": "25499885", "evidence": [ { "id": "rs3388461025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461025" } ] } ] } ], "record_id": "Q80ZF8-1" }, { "uniprot_canonical_ac": "Q8BLD6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLD6", "url": "https://www.uniprot.org/uniprotkb/Q8BLD6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 626, "chemical_mass": 68524.0, "gene_names": "Ankrd55;Ankrd55;C030011J08Rik", "protein_name": "Ankyrin repeat domain-containing protein 55", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BLD6-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asn296", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G22729NQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DINESTPLAYALYCGHTACVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 296, "start_aa": "Asn", "end_pos": 296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn296", "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": "Q8BLD6-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ser474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BLD6", "url": "https://www.uniprot.org/uniprotkb/Q8BLD6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8BLD6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLD6" } ] } ] }, { "uniprot_canonical_ac": "Q8BLD6-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "13", "chr_pos": "112504670", "evidence": [ { "id": "rs3389260240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389260240" } ] } ] } ], "record_id": "Q8BLD6-1" }, { "uniprot_canonical_ac": "Q9R1V6-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 904, "chemical_mass": 99715.0, "gene_names": "Adam22;2900022I03Rik;Adam22;MDC2", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 22", "disease": [ { "disease_id": "DOID:0080434", "name": "developmental and epileptic encephalopathy 61", "description": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0080434", "evidence": [ { "id": "0080434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080434" } ], "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": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "Schwann cell differentiation", "id": "GO:0014037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014037", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "gliogenesis", "id": "GO:0042063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042063", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "163", "end_pos": "163", "site_lbl": "Asn163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "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": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "Q9R1V6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2444", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2444" } ] }, { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNITPPQFILKPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "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": "Q9R1V6-3", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "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": 515, "start_aa": "Ser", "end_pos": 515, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser515", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9R1V6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9R1V6" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "517", "end_pos": "517", "site_lbl": "Asn517", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EICSGNSSQCAPNVHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2444", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2444" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "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": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "Q9R1V6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "632", "end_pos": "632", "site_lbl": "Asn632", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2443", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2443" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G46902YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2413", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2413" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2258", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2258" } ] }, { "glytoucan_ac": "G87661QW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TLNCSGAHVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "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" } ] }, { "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": 632, "start_aa": "Asn", "end_pos": 632, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn632", "evidence": [ { "id": "Q9R1V6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "673", "end_pos": "673", "site_lbl": "Asn673", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CLPVASFNFSTCSSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 673, "start_aa": "Asn", "end_pos": 673, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn673", "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" } ] }, { "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": 673, "start_aa": "Asn", "end_pos": 673, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn673", "evidence": [ { "id": "Q9R1V6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "808", "end_pos": "808", "site_lbl": "Ser808", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "832", "end_pos": "832", "site_lbl": "Ser832", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "855", "end_pos": "855", "site_lbl": "Ser855", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "860", "end_pos": "860", "site_lbl": "Ser860", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "864", "end_pos": "864", "site_lbl": "Ser864", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "868", "end_pos": "868", "site_lbl": "Ser868", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1V6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1V6" } ] } ] }, { "uniprot_canonical_ac": "Q9R1V6-3", "start_pos": "509", "end_pos": "509", "site_lbl": "Asp509", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Fails to bind to LGI1.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1V6", "url": "https://www.uniprot.org/uniprotkb/Q9R1V6" }, { "database": "PubMed", "id": "16990550", "url": "https://glygen.org/publication/PubMed/16990550" } ] } ] } ], "record_id": "Q9R1V6-3" }, { "uniprot_canonical_ac": "Q61337-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 22080.0, "gene_names": "Bad;Bad;Bbc2;Bbc6", "protein_name": "Bcl2-associated agonist of cell death", "disease": [ { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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: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:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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: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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "BAD-BCL-2 complex", "id": "GO:0097138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097138", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "protein phosphatase 2B binding", "id": "GO:0030346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030346", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "protein kinase B binding", "id": "GO:0043422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043422", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity", "id": "GO:0140608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140608", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "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": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "ADP metabolic process", "id": "GO:0046031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046031", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "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": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "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": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "symbiont-mediated suppression of host apoptosis", "id": "GO:0033668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033668", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "type B pancreatic cell proliferation", "id": "GO:0044342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044342", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "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": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "cellular response to lipid", "id": "GO:0071396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071396", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress", "id": "GO:1902220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902220", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of type B pancreatic cell development", "id": "GO:2000078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000078", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "positive regulation of granulosa cell apoptotic process", "id": "GO:1904710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904710", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" }, { "name": "symbiont-mediated activation of host apoptosis", "id": "GO:0052151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052151", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61337-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PRO", "id": "Q61337", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q61337" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" }, { "database": "PubMed", "id": "10880354", "url": "https://glygen.org/publication/PubMed/10880354" }, { "database": "PubMed", "id": "10949026", "url": "https://glygen.org/publication/PubMed/10949026" }, { "database": "PubMed", "id": "8929531", "url": "https://glygen.org/publication/PubMed/8929531" }, { "database": "PubMed", "id": "9346240", "url": "https://glygen.org/publication/PubMed/9346240" }, { "database": "PubMed", "id": "10679322", "url": "https://glygen.org/publication/PubMed/10679322" }, { "database": "PubMed", "id": "11278362", "url": "https://glygen.org/publication/PubMed/11278362" }, { "database": "PubMed", "id": "12954615", "url": "https://glygen.org/publication/PubMed/12954615" }, { "database": "PubMed", "id": "15849194", "url": "https://glygen.org/publication/PubMed/15849194" }, { "database": "PubMed", "id": "9381178", "url": "https://glygen.org/publication/PubMed/9381178" }, { "database": "PubMed", "id": "10611223", "url": "https://glygen.org/publication/PubMed/10611223" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Enhances pro-apoptotic activity; no phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "9381178", "url": "https://glygen.org/publication/PubMed/9381178" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PRO", "id": "Q61337", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q61337" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" }, { "database": "PubMed", "id": "12049737", "url": "https://glygen.org/publication/PubMed/12049737" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PRO", "id": "Q61337", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q61337" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" }, { "database": "PubMed", "id": "12049737", "url": "https://glygen.org/publication/PubMed/12049737" }, { "database": "PubMed", "id": "10880354", "url": "https://glygen.org/publication/PubMed/10880354" }, { "database": "PubMed", "id": "10949026", "url": "https://glygen.org/publication/PubMed/10949026" }, { "database": "PubMed", "id": "8929531", "url": "https://glygen.org/publication/PubMed/8929531" }, { "database": "PubMed", "id": "9346240", "url": "https://glygen.org/publication/PubMed/9346240" }, { "database": "PubMed", "id": "10679322", "url": "https://glygen.org/publication/PubMed/10679322" }, { "database": "PubMed", "id": "11342610", "url": "https://glygen.org/publication/PubMed/11342610" }, { "database": "PubMed", "id": "11493700", "url": "https://glygen.org/publication/PubMed/11493700" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "9381178", "url": "https://glygen.org/publication/PubMed/9381178" }, { "database": "PubMed", "id": "10611223", "url": "https://glygen.org/publication/PubMed/10611223" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "9381178", "url": "https://glygen.org/publication/PubMed/9381178" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q61337", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q61337" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" }, { "database": "PubMed", "id": "10880354", "url": "https://glygen.org/publication/PubMed/10880354" }, { "database": "PubMed", "id": "10949026", "url": "https://glygen.org/publication/PubMed/10949026" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Enhances pro-apoptotic activity; no phosphorylation; interacts with Bcl-X(L).", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No pro-apoptotic activity, no interaction with Bcl-X(L).", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Enhances pro-apoptotic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No pro-apoptotic activity; even when associated with A-112.", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" }, { "database": "PubMed", "id": "11717309", "url": "https://glygen.org/publication/PubMed/11717309" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Thr201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q61337", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q61337" }, { "database": "iPTMnet", "id": "Q61337", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61337" }, { "database": "PubMed", "id": "14967141", "url": "https://glygen.org/publication/PubMed/14967141" } ] } ] }, { "uniprot_canonical_ac": "Q61337-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61337", "url": "https://www.uniprot.org/uniprotkb/Q61337" } ] } ] } ], "record_id": "Q61337-1" }, { "uniprot_canonical_ac": "Q02248-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 781, "chemical_mass": 85471.0, "gene_names": "Ctnnb1;Bfc;Catnb;Ctnnb1;Mesc", "protein_name": "Catenin beta-1", "disease": [ { "disease_id": "DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.", "url": "https://disease-ontology.org/term/DOID:0050535", "evidence": [ { "id": "0050535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050535" } ], "weight": 0.0 }, { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "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:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0070049", "name": "autosomal dominant intellectual developmental disorder 19", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.", "url": "https://disease-ontology.org/term/DOID:0070049", "evidence": [ { "id": "0070049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070049" } ], "weight": 0.0 }, { "disease_id": "DOID:0080264", "name": "exudative vitreoretinopathy 7", "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1.", "url": "https://disease-ontology.org/term/DOID:0080264", "evidence": [ { "id": "0080264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080264" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "weight": 0.0 }, { "disease_id": "DOID:1911", "name": "endodermal sinus tumor", "description": "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.", "url": "https://disease-ontology.org/term/DOID:1911", "evidence": [ { "id": "1911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1911" } ], "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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "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:3307", "name": "teratoma", "description": "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.", "url": "https://disease-ontology.org/term/DOID:3307", "evidence": [ { "id": "3307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3307" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "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:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5374", "name": "pilomatrixoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5374", "evidence": [ { "id": "5374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5374" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of epithelial to mesenchymal transition", "id": "GO:0010717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010717", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of calcium ion import", "id": "GO:0090279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090279", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of centriole-centriole cohesion", "id": "GO:0030997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030997", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis", "id": "GO:0003340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003340", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "trachea morphogenesis", "id": "GO:0060439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060439", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "establishment of blood-brain barrier", "id": "GO:0060856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060856", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomerase", "id": "GO:0032212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032212", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of blood vessel branching", "id": "GO:1905555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905555", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "endothelial tube morphogenesis", "id": "GO:0061154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061154", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hair follicle placode formation", "id": "GO:0060789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060789", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of determination of dorsal identity", "id": "GO:2000017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000017", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in prostate gland development", "id": "GO:0060742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060742", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060769", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell proliferation", "id": "GO:0048660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048660", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of homotypic cell-cell adhesion", "id": "GO:0034112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034112", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "sympathetic ganglion development", "id": "GO:0061549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061549", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "hair cycle process", "id": "GO:0022405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022405", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "Schwann cell proliferation", "id": "GO:0014010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014010", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of centromeric sister chromatid cohesion", "id": "GO:0070602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070602", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "endodermal cell fate commitment", "id": "GO:0001711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001711", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of protein localization to cell surface", "id": "GO:2000008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000008", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lens morphogenesis in camera-type eye", "id": "GO:0002089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002089", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "ventricular compact myocardium morphogenesis", "id": "GO:0003223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003223", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of transcription elongation by RNA polymerase II", "id": "GO:0032968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032968", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "trachea formation", "id": "GO:0060440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060440", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "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": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of branching involved in lung morphogenesis", "id": "GO:0061047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061047", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cellular response to indole-3-methanol", "id": "GO:0071681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071681", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "astrocyte-dopaminergic neuron signaling", "id": "GO:0036520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036520", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "epicardium-derived cardiac vascular smooth muscle cell differentiation", "id": "GO:0060983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060983", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "mesenchyme morphogenesis", "id": "GO:0072132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072132", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "mesenchymal to epithelial transition", "id": "GO:0060231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060231", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of protein sumoylation", "id": "GO:0033234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033234", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cellular response to insulin-like growth factor stimulus", "id": "GO:1990314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990314", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "neural plate development", "id": "GO:0001840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001840", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of secondary heart field cardioblast proliferation", "id": "GO:0003266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003266", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "metanephros morphogenesis", "id": "GO:0003338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003338", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "glial cell fate determination", "id": "GO:0007403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007403", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of heparan sulfate proteoglycan biosynthetic process", "id": "GO:0010909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010909", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "central nervous system vasculogenesis", "id": "GO:0022009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022009", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "genitalia morphogenesis", "id": "GO:0035112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035112", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "embryonic skeletal limb joint morphogenesis", "id": "GO:0036023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036023", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0045743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045743", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle, embryonic", "id": "GO:0045976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045976", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of timing of anagen", "id": "GO:0051884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051884", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "oviduct development", "id": "GO:0060066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060066", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lung cell differentiation", "id": "GO:0060479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060479", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lung induction", "id": "GO:0060492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060492", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation involved in lung development", "id": "GO:0060916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060916", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "fungiform papilla formation", "id": "GO:0061198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061198", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cranial ganglion development", "id": "GO:0061550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061550", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "renal vesicle formation", "id": "GO:0072033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072033", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "renal inner medulla development", "id": "GO:0072053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072053", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "renal outer medulla development", "id": "GO:0072054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072054", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nephron tubule formation", "id": "GO:0072079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072079", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of nephron tubule epithelial cell differentiation", "id": "GO:0072182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072182", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "dorsal root ganglion development", "id": "GO:1990791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990791", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "establishment of blood-retinal barrier", "id": "GO:1990963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990963", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell differentiation", "id": "GO:0060947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060947", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "mesenchymal stem cell differentiation", "id": "GO:0072497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072497", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "fascia adherens", "id": "GO:0005916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005916", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cell projection membrane", "id": "GO:0031253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031253", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "beta-catenin-TCF complex", "id": "GO:1990907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990907", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "flotillin complex", "id": "GO:0016600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016600", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "Scrib-APC-beta-catenin complex", "id": "GO:0034750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034750", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "beta-catenin-TCF7L2 complex", "id": "GO:0070369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070369", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "alpha-catenin binding", "id": "GO:0045294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045294", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "delta-catenin binding", "id": "GO:0070097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070097", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "histone methyltransferase binding", "id": "GO:1990226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990226", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02248-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Thr102", "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": 102, "start_aa": "Thr", "end_pos": 102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr102", "evidence": [ { "id": "29391154", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391154" }, { "id": "Q02248", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q02248" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34346496", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34346496" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "39642888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39642888" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "12432063", "url": "https://glygen.org/publication/PubMed/12432063" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Thr112", "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": 112, "start_aa": "Thr", "end_pos": 112, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr112", "evidence": [ { "id": "29391154", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391154" }, { "id": "Q02248", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q02248" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34346496", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34346496" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "39642888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39642888" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q02248", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q02248" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "12432063", "url": "https://glygen.org/publication/PubMed/12432063" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "9", "chr_pos": "120780053", "evidence": [ { "id": "rs3547589052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547589052" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36379GD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "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": "Q02248-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "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": 23, "start_aa": "Ser", "end_pos": 23, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser23", "evidence": [ { "id": "29391154", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391154" }, { "id": "Q02248", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q02248" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34346496", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34346496" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "39642888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39642888" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" }, { "id": "Q02248", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q02248" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 23, "start_aa": "Ser", "end_pos": 23, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser23", "evidence": [ { "id": "Q02248", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02248#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "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": 29, "start_aa": "Ser", "end_pos": 29, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser29", "evidence": [ { "id": "29391154", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391154" }, { "id": "Q02248", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q02248" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34346496", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34346496" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "39642888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39642888" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "12432063", "url": "https://glygen.org/publication/PubMed/12432063" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asn387", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSDAATK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 387, "start_aa": "Asn", "end_pos": 387, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn387", "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": "Q02248-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Tyr142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "12640114", "url": "https://glygen.org/publication/PubMed/12640114" }, { "database": "PubMed", "id": "27292568", "url": "https://glygen.org/publication/PubMed/27292568" }, { "database": "PubMed", "id": "27595133", "url": "https://glygen.org/publication/PubMed/27595133" }, { "database": "PubMed", "id": "29555825", "url": "https://glygen.org/publication/PubMed/29555825" }, { "database": "PubMed", "id": "31330317", "url": "https://glygen.org/publication/PubMed/31330317" }, { "database": "PubMed", "id": "33898435", "url": "https://glygen.org/publication/PubMed/33898435" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "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": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "17009320", "url": "https://glygen.org/publication/PubMed/17009320" }, { "database": "PubMed", "id": "18423204", "url": "https://glygen.org/publication/PubMed/18423204" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "17009320", "url": "https://glygen.org/publication/PubMed/17009320" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Tyr331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Tyr333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "30013660", "url": "https://glygen.org/publication/PubMed/30013660" }, { "database": "PubMed", "id": "33288902", "url": "https://glygen.org/publication/PubMed/33288902" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "20307497", "url": "https://glygen.org/publication/PubMed/20307497" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "23071615", "url": "https://glygen.org/publication/PubMed/23071615" }, { "database": "PubMed", "id": "23138569", "url": "https://glygen.org/publication/PubMed/23138569" }, { "database": "PubMed", "id": "23935526", "url": "https://glygen.org/publication/PubMed/23935526" }, { "database": "PubMed", "id": "24911876", "url": "https://glygen.org/publication/PubMed/24911876" }, { "database": "PubMed", "id": "25443287", "url": "https://glygen.org/publication/PubMed/25443287" }, { "database": "PubMed", "id": "25517963", "url": "https://glygen.org/publication/PubMed/25517963" }, { "database": "PubMed", "id": "25924235", "url": "https://glygen.org/publication/PubMed/25924235" }, { "database": "PubMed", "id": "27384483", "url": "https://glygen.org/publication/PubMed/27384483" }, { "database": "PubMed", "id": "27572314", "url": "https://glygen.org/publication/PubMed/27572314" }, { "database": "PubMed", "id": "28114280", "url": "https://glygen.org/publication/PubMed/28114280" }, { "database": "PubMed", "id": "28848542", "url": "https://glygen.org/publication/PubMed/28848542" }, { "database": "PubMed", "id": "29422917", "url": "https://glygen.org/publication/PubMed/29422917" }, { "database": "PubMed", "id": "29872041", "url": "https://glygen.org/publication/PubMed/29872041" }, { "database": "PubMed", "id": "29872733", "url": "https://glygen.org/publication/PubMed/29872733" }, { "database": "PubMed", "id": "30413815", "url": "https://glygen.org/publication/PubMed/30413815" }, { "database": "PubMed", "id": "30568578", "url": "https://glygen.org/publication/PubMed/30568578" }, { "database": "PubMed", "id": "31413570", "url": "https://glygen.org/publication/PubMed/31413570" }, { "database": "PubMed", "id": "31714894", "url": "https://glygen.org/publication/PubMed/31714894" }, { "database": "PubMed", "id": "31974426", "url": "https://glygen.org/publication/PubMed/31974426" }, { "database": "PubMed", "id": "32575075", "url": "https://glygen.org/publication/PubMed/32575075" }, { "database": "PubMed", "id": "32764573", "url": "https://glygen.org/publication/PubMed/32764573" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished HIPK2-mediated proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PubMed", "id": "20307497", "url": "https://glygen.org/publication/PubMed/20307497" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ser37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PRO", "id": "Q02248", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "20307497", "url": "https://glygen.org/publication/PubMed/20307497" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "23071615", "url": "https://glygen.org/publication/PubMed/23071615" }, { "database": "PubMed", "id": "23138569", "url": "https://glygen.org/publication/PubMed/23138569" }, { "database": "PubMed", "id": "24911876", "url": "https://glygen.org/publication/PubMed/24911876" }, { "database": "PubMed", "id": "25443287", "url": "https://glygen.org/publication/PubMed/25443287" }, { "database": "PubMed", "id": "25924235", "url": "https://glygen.org/publication/PubMed/25924235" }, { "database": "PubMed", "id": "27384483", "url": "https://glygen.org/publication/PubMed/27384483" }, { "database": "PubMed", "id": "27507058", "url": "https://glygen.org/publication/PubMed/27507058" }, { "database": "PubMed", "id": "27572314", "url": "https://glygen.org/publication/PubMed/27572314" }, { "database": "PubMed", "id": "28114280", "url": "https://glygen.org/publication/PubMed/28114280" }, { "database": "PubMed", "id": "28848542", "url": "https://glygen.org/publication/PubMed/28848542" }, { "database": "PubMed", "id": "29422917", "url": "https://glygen.org/publication/PubMed/29422917" }, { "database": "PubMed", "id": "29872733", "url": "https://glygen.org/publication/PubMed/29872733" }, { "database": "PubMed", "id": "30413815", "url": "https://glygen.org/publication/PubMed/30413815" }, { "database": "PubMed", "id": "30568578", "url": "https://glygen.org/publication/PubMed/30568578" }, { "database": "PubMed", "id": "31413570", "url": "https://glygen.org/publication/PubMed/31413570" }, { "database": "PubMed", "id": "31974426", "url": "https://glygen.org/publication/PubMed/31974426" }, { "database": "PubMed", "id": "32575075", "url": "https://glygen.org/publication/PubMed/32575075" }, { "database": "PubMed", "id": "32764573", "url": "https://glygen.org/publication/PubMed/32764573" }, { "database": "PubMed", "id": "33443517", "url": "https://glygen.org/publication/PubMed/33443517" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished HIPK2-mediated proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PubMed", "id": "20307497", "url": "https://glygen.org/publication/PubMed/20307497" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Thr3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "31410155", "url": "https://glygen.org/publication/PubMed/31410155" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Thr41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "23138569", "url": "https://glygen.org/publication/PubMed/23138569" }, { "database": "PubMed", "id": "23772418", "url": "https://glygen.org/publication/PubMed/23772418" }, { "database": "PubMed", "id": "24911876", "url": "https://glygen.org/publication/PubMed/24911876" }, { "database": "PubMed", "id": "25443287", "url": "https://glygen.org/publication/PubMed/25443287" }, { "database": "PubMed", "id": "25517963", "url": "https://glygen.org/publication/PubMed/25517963" }, { "database": "PubMed", "id": "25924235", "url": "https://glygen.org/publication/PubMed/25924235" }, { "database": "PubMed", "id": "27384483", "url": "https://glygen.org/publication/PubMed/27384483" }, { "database": "PubMed", "id": "27572314", "url": "https://glygen.org/publication/PubMed/27572314" }, { "database": "PubMed", "id": "28114280", "url": "https://glygen.org/publication/PubMed/28114280" }, { "database": "PubMed", "id": "28848542", "url": "https://glygen.org/publication/PubMed/28848542" }, { "database": "PubMed", "id": "29422917", "url": "https://glygen.org/publication/PubMed/29422917" }, { "database": "PubMed", "id": "29872733", "url": "https://glygen.org/publication/PubMed/29872733" }, { "database": "PubMed", "id": "30413815", "url": "https://glygen.org/publication/PubMed/30413815" }, { "database": "PubMed", "id": "30568578", "url": "https://glygen.org/publication/PubMed/30568578" }, { "database": "PubMed", "id": "31413570", "url": "https://glygen.org/publication/PubMed/31413570" }, { "database": "PubMed", "id": "31974426", "url": "https://glygen.org/publication/PubMed/31974426" }, { "database": "PubMed", "id": "32575075", "url": "https://glygen.org/publication/PubMed/32575075" }, { "database": "PubMed", "id": "32764573", "url": "https://glygen.org/publication/PubMed/32764573" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9JMK2-1", "kinase_gene_name": "Csnk1e", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "17053159", "url": "https://glygen.org/publication/PubMed/17053159" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "IntAct", "id": "Q02248", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q02248*" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "19107203", "url": "https://glygen.org/publication/PubMed/19107203" }, { "database": "PubMed", "id": "17208333", "url": "https://glygen.org/publication/PubMed/17208333" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "23071615", "url": "https://glygen.org/publication/PubMed/23071615" }, { "database": "PubMed", "id": "23444350", "url": "https://glygen.org/publication/PubMed/23444350" }, { "database": "PubMed", "id": "23935526", "url": "https://glygen.org/publication/PubMed/23935526" }, { "database": "PubMed", "id": "24278135", "url": "https://glygen.org/publication/PubMed/24278135" }, { "database": "PubMed", "id": "25517963", "url": "https://glygen.org/publication/PubMed/25517963" }, { "database": "PubMed", "id": "30419856", "url": "https://glygen.org/publication/PubMed/30419856" }, { "database": "PubMed", "id": "31413570", "url": "https://glygen.org/publication/PubMed/31413570" }, { "database": "PubMed", "id": "33443517", "url": "https://glygen.org/publication/PubMed/33443517" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "25517963", "url": "https://glygen.org/publication/PubMed/25517963" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Tyr489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "31330317", "url": "https://glygen.org/publication/PubMed/31330317" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Ser552", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "17237784", "url": "https://glygen.org/publication/PubMed/17237784" }, { "database": "PubMed", "id": "19118113", "url": "https://glygen.org/publication/PubMed/19118113" }, { "database": "PubMed", "id": "20133717", "url": "https://glygen.org/publication/PubMed/20133717" }, { "database": "PubMed", "id": "20361929", "url": "https://glygen.org/publication/PubMed/20361929" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "22981369", "url": "https://glygen.org/publication/PubMed/22981369" }, { "database": "PubMed", "id": "22992673", "url": "https://glygen.org/publication/PubMed/22992673" }, { "database": "PubMed", "id": "23308088", "url": "https://glygen.org/publication/PubMed/23308088" }, { "database": "PubMed", "id": "23474484", "url": "https://glygen.org/publication/PubMed/23474484" }, { "database": "PubMed", "id": "23691015", "url": "https://glygen.org/publication/PubMed/23691015" }, { "database": "PubMed", "id": "23935526", "url": "https://glygen.org/publication/PubMed/23935526" }, { "database": "PubMed", "id": "24278135", "url": "https://glygen.org/publication/PubMed/24278135" }, { "database": "PubMed", "id": "24911876", "url": "https://glygen.org/publication/PubMed/24911876" }, { "database": "PubMed", "id": "25520007", "url": "https://glygen.org/publication/PubMed/25520007" }, { "database": "PubMed", "id": "25670795", "url": "https://glygen.org/publication/PubMed/25670795" }, { "database": "PubMed", "id": "25799508", "url": "https://glygen.org/publication/PubMed/25799508" }, { "database": "PubMed", "id": "26739494", "url": "https://glygen.org/publication/PubMed/26739494" }, { "database": "PubMed", "id": "27384483", "url": "https://glygen.org/publication/PubMed/27384483" }, { "database": "PubMed", "id": "27550469", "url": "https://glygen.org/publication/PubMed/27550469" }, { "database": "PubMed", "id": "28667836", "url": "https://glygen.org/publication/PubMed/28667836" }, { "database": "PubMed", "id": "29161772", "url": "https://glygen.org/publication/PubMed/29161772" }, { "database": "PubMed", "id": "29449540", "url": "https://glygen.org/publication/PubMed/29449540" }, { "database": "PubMed", "id": "29497040", "url": "https://glygen.org/publication/PubMed/29497040" }, { "database": "PubMed", "id": "29530069", "url": "https://glygen.org/publication/PubMed/29530069" }, { "database": "PubMed", "id": "29872733", "url": "https://glygen.org/publication/PubMed/29872733" }, { "database": "PubMed", "id": "30613263", "url": "https://glygen.org/publication/PubMed/30613263" }, { "database": "PubMed", "id": "30792401", "url": "https://glygen.org/publication/PubMed/30792401" }, { "database": "PubMed", "id": "31864412", "url": "https://glygen.org/publication/PubMed/31864412" }, { "database": "PubMed", "id": "32929341", "url": "https://glygen.org/publication/PubMed/32929341" }, { "database": "PubMed", "id": "33011305", "url": "https://glygen.org/publication/PubMed/33011305" }, { "database": "PubMed", "id": "33288902", "url": "https://glygen.org/publication/PubMed/33288902" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes AMPK-mediated phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PubMed", "id": "20361929", "url": "https://glygen.org/publication/PubMed/20361929" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Thr556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "18423204", "url": "https://glygen.org/publication/PubMed/18423204" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Tyr64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Tyr654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "19104148", "url": "https://glygen.org/publication/PubMed/19104148" }, { "database": "PubMed", "id": "19404440", "url": "https://glygen.org/publication/PubMed/19404440" }, { "database": "PubMed", "id": "21307168", "url": "https://glygen.org/publication/PubMed/21307168" }, { "database": "PubMed", "id": "21970630", "url": "https://glygen.org/publication/PubMed/21970630" }, { "database": "PubMed", "id": "25970250", "url": "https://glygen.org/publication/PubMed/25970250" }, { "database": "PubMed", "id": "31330317", "url": "https://glygen.org/publication/PubMed/31330317" }, { "database": "PubMed", "id": "32231574", "url": "https://glygen.org/publication/PubMed/32231574" }, { "database": "PubMed", "id": "32308412", "url": "https://glygen.org/publication/PubMed/32308412" }, { "database": "PubMed", "id": "32681081", "url": "https://glygen.org/publication/PubMed/32681081" }, { "database": "PubMed", "id": "33188033", "url": "https://glygen.org/publication/PubMed/33188033" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Ser675", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "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": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "21307168", "url": "https://glygen.org/publication/PubMed/21307168" }, { "database": "PubMed", "id": "21858154", "url": "https://glygen.org/publication/PubMed/21858154" }, { "database": "PubMed", "id": "22422579", "url": "https://glygen.org/publication/PubMed/22422579" }, { "database": "PubMed", "id": "22981369", "url": "https://glygen.org/publication/PubMed/22981369" }, { "database": "PubMed", "id": "23474484", "url": "https://glygen.org/publication/PubMed/23474484" }, { "database": "PubMed", "id": "23691015", "url": "https://glygen.org/publication/PubMed/23691015" }, { "database": "PubMed", "id": "23744610", "url": "https://glygen.org/publication/PubMed/23744610" }, { "database": "PubMed", "id": "23935526", "url": "https://glygen.org/publication/PubMed/23935526" }, { "database": "PubMed", "id": "24122933", "url": "https://glygen.org/publication/PubMed/24122933" }, { "database": "PubMed", "id": "25560280", "url": "https://glygen.org/publication/PubMed/25560280" }, { "database": "PubMed", "id": "26884171", "url": "https://glygen.org/publication/PubMed/26884171" }, { "database": "PubMed", "id": "28254818", "url": "https://glygen.org/publication/PubMed/28254818" }, { "database": "PubMed", "id": "28583374", "url": "https://glygen.org/publication/PubMed/28583374" }, { "database": "PubMed", "id": "29140564", "url": "https://glygen.org/publication/PubMed/29140564" }, { "database": "PubMed", "id": "29463067", "url": "https://glygen.org/publication/PubMed/29463067" }, { "database": "PubMed", "id": "29497040", "url": "https://glygen.org/publication/PubMed/29497040" }, { "database": "PubMed", "id": "31900217", "url": "https://glygen.org/publication/PubMed/31900217" }, { "database": "PubMed", "id": "33815677", "url": "https://glygen.org/publication/PubMed/33815677" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Tyr86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q02248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02248" }, { "database": "PubMed", "id": "27572314", "url": "https://glygen.org/publication/PubMed/27572314" }, { "database": "PubMed", "id": "31330317", "url": "https://glygen.org/publication/PubMed/31330317" } ] } ] }, { "uniprot_canonical_ac": "Q02248-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Met8", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "P", "comment": "Loss of interaction with VCL.", "evidence": [ { "database": "UniProtKB", "id": "Q02248", "url": "https://www.uniprot.org/uniprotkb/Q02248" }, { "database": "PubMed", "id": "20086044", "url": "https://glygen.org/publication/PubMed/20086044" } ] } ] } ], "record_id": "Q02248-1" }, { "uniprot_canonical_ac": "P55041-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 295, "chemical_mass": 33725.0, "gene_names": "Gem;Gem;Kir", "protein_name": "GTP-binding protein GEM", "disease": [ { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 } ], "biological_process": [ { "name": "metaphase chromosome alignment", "id": "GO:0051310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051310", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "spindle midzone", "id": "GO:0051233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051233", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P55041-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Trp269", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "No calmodulin binding.", "evidence": [ { "database": "UniProtKB", "id": "P55041", "url": "https://www.uniprot.org/uniprotkb/P55041" }, { "database": "PubMed", "id": "8810259", "url": "https://glygen.org/publication/PubMed/8810259" } ] } ] } ], "record_id": "P55041-1" }, { "uniprot_canonical_ac": "P09022-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 36037.0, "gene_names": "Hoxa1;Era-1;Hox-1.6;Hoxa-1", "protein_name": "Homeobox protein Hox-A1", "disease": [ { "disease_id": "DOID:0050682", "name": "Athabaskan brainstem dysgenesis syndrome", "description": "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.", "url": "https://disease-ontology.org/term/DOID:0050682", "evidence": [ { "id": "0050682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050682" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 } ], "biological_process": [ { "name": "rhombomere 3 development", "id": "GO:0021569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021569", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "rhombomere 4 development", "id": "GO:0021570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021570", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "rhombomere 5 development", "id": "GO:0021571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021571", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "facial nucleus development", "id": "GO:0021754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021754", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "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": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "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": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "central nervous system neuron differentiation", "id": "GO:0021953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021953", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "optokinetic behavior", "id": "GO:0007634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007634", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "abducens nerve formation", "id": "GO:0021599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021599", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "semicircular canal formation", "id": "GO:0060876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060876", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "facial nerve structural organization", "id": "GO:0021612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021612", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "outer ear morphogenesis", "id": "GO:0042473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P09022", "url": "https://www.uniprot.org/uniprotkb/P09022" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P09022-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "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": 149, "start_aa": "Thr", "end_pos": 149, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr149", "evidence": [ { "id": "29465778", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29465778" }, { "id": "P09022", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P09022" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 149, "start_aa": "Thr", "end_pos": 149, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr149", "evidence": [ { "id": "P09022", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P09022#ptm_processing" }, { "id": "29465778", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29465778" } ] } ] } ], "record_id": "P09022-1" }, { "uniprot_canonical_ac": "P33175-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1027, "chemical_mass": 117019.0, "gene_names": "Kif5a;D10Bwg0738e;Khc;Kiaa4086;Kif5a;Kif5;Kns;Nkhc1;mKIAA4086", "protein_name": "Kinesin heavy chain isoform 5A", "disease": [ { "disease_id": "DOID:0081379", "name": "amyotrophic lateral sclerosis type 25", "description": "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).", "url": "https://disease-ontology.org/term/DOID:0081379", "evidence": [ { "id": "0081379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081379" } ], "weight": 0.0 }, { "disease_id": "DOID:0110763", "name": "hereditary spastic paraplegia 10", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110763", "evidence": [ { "id": "0110763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110763" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "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:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "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:7596", "name": "asbestos-related lung carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7596", "evidence": [ { "id": "7596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7596" } ], "weight": 0.0 } ], "biological_process": [ { "name": "anterograde axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "anterograde dendritic transport of neurotransmitter receptor complex", "id": "GO:0098971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098971", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "retrograde neuronal dense core vesicle transport", "id": "GO:1990049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990049", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "plus-end-directed microtubule motor activity", "id": "GO:0008574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008574", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "central region of growth cone", "id": "GO:0090724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090724", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P33175-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Asn402", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G74930WP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LAGEDSALGAELCEETPVNDNSSIVVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 402, "start_aa": "Asn", "end_pos": 402, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn402", "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": "P33175-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Thr397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P33175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P33175" } ] } ] }, { "uniprot_canonical_ac": "P33175-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Lys238", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "10", "chr_pos": "127081219", "evidence": [ { "id": "rs3412846132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412846132" } ] } ] }, { "uniprot_canonical_ac": "P33175-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ala312", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "10", "chr_pos": "127079263", "evidence": [ { "id": "rs3548449075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548449075" } ] } ] }, { "uniprot_canonical_ac": "P33175-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asp37", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "10", "chr_pos": "127098657", "evidence": [ { "id": "rs3389131086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389131086" } ] } ] }, { "uniprot_canonical_ac": "P33175-1", "start_pos": "907", "end_pos": "907", "site_lbl": "Lys907", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "10", "chr_pos": "127067195", "evidence": [ { "id": "rs3389129818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389129818" } ] } ] }, { "uniprot_canonical_ac": "P33175-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Loss of ability to induce formation of neurite-like membrane protrusions in non-neuronal cells.", "evidence": [ { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprotkb/P33175" }, { "database": "PubMed", "id": "21976701", "url": "https://glygen.org/publication/PubMed/21976701" } ] } ] } ], "record_id": "P33175-1" }, { "uniprot_canonical_ac": "Q9CR95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 275, "chemical_mass": 29639.0, "gene_names": "Necap1;1200016B17Rik;Necap1", "protein_name": "Adaptin ear-binding coat-associated protein 1", "disease": [ { "disease_id": "DOID:0080443", "name": "developmental and epileptic encephalopathy 21", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0080443", "evidence": [ { "id": "0080443", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080443" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "clathrin vesicle coat", "id": "GO:0030125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030125", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" }, { "name": "presynaptic endocytosis", "id": "GO:0140238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140238", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G71463BG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IQDGTGRSAFIGIGFTDRGDAFDFNVSLQDHFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "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": "Q9CR95-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "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": 162, "start_aa": "Ser", "end_pos": 162, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser162", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9CR95", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CR95" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Asn165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSIGNITAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "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": "Q9CR95-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "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": 196, "start_aa": "Thr", "end_pos": 196, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr196", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9CR95", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CR95" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "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": 202, "start_aa": "Ser", "end_pos": 202, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser202", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9CR95", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CR95" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "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": 203, "start_aa": "Ser", "end_pos": 203, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser203", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9CR95", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CR95" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Loss of binding to AP-2 and can bind to AP-1; when associated with G-273.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Trp272", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "W", "sequence_mut": "F", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "W", "sequence_mut": "Y", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Val273", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "D", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "E", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "G", "comment": "Loss of binding to AP-2 and can bind to AP-1; when associated with D-270.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "N", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "P", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "V", "sequence_mut": "S", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Gln274", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "Q", "sequence_mut": "M", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "Q", "sequence_mut": "N", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "Q", "sequence_mut": "S", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "Q", "sequence_mut": "T", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] } ] }, { "uniprot_canonical_ac": "Q9CR95-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Phe275", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "F", "sequence_mut": "F", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "F", "sequence_mut": "W", "comment": "No effect on binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Loss of binding to AP-2.", "evidence": [ { "database": "UniProtKB", "id": "Q9CR95", "url": "https://www.uniprot.org/uniprotkb/Q9CR95" }, { "database": "PubMed", "id": "15359277", "url": "https://glygen.org/publication/PubMed/15359277" } ] } ] } ], "record_id": "Q9CR95-1" }, { "uniprot_canonical_ac": "P26450-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 724, "chemical_mass": 83517.0, "gene_names": "Pik3r1;PI3K;Pik3r1;p50alpha;p55alpha;p85alpha", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "disease": [ { "disease_id": "DOID:0081139", "name": "agammaglobulinemia 7", "description": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:0081139", "evidence": [ { "id": "0081139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081139" } ], "weight": 0.0 }, { "disease_id": "DOID:0111454", "name": "SHORT syndrome", "description": "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:0111454", "evidence": [ { "id": "0111454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111949", "name": "immunodeficiency 36", "description": "A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:0111949", "evidence": [ { "id": "0111949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111949" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14179", "name": "X-linked agammaglobulinemia", "description": "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.", "url": "https://disease-ontology.org/term/DOID:14179", "evidence": [ { "id": "14179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14179" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "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: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:7305", "name": "astroblastoma", "description": "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.", "url": "https://disease-ontology.org/term/DOID:7305", "evidence": [ { "id": "7305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7305" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "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": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "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": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "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": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "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": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of stress fiber assembly", "id": "GO:0051497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051497", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum unfolded protein response", "id": "GO:1900103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900103", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034143", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "T follicular helper cell differentiation", "id": "GO:0061470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061470", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "negative regulation of muscle cell apoptotic process", "id": "GO:0010656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010656", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion disassembly", "id": "GO:0120183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120183", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" } ], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor binding", "id": "GO:0005161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005161", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-3-kinase regulator activity", "id": "GO:0046935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046935", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulator activity", "id": "GO:0035014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035014", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "insulin receptor substrate binding", "id": "GO:0043560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043560", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-3-kinase activity", "id": "GO:0016303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016303", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit binding", "id": "GO:0036312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036312", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "ErbB-3 class receptor binding", "id": "GO:0043125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043125", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "neurotrophin TRKA receptor binding", "id": "GO:0005168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005168", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "insulin binding", "id": "GO:0043559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043559", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex", "id": "GO:0005942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005942", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class IA", "id": "GO:0005943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005943", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum membrane", "id": "GO:1990578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990578", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26450-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "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": 541, "start_aa": "Ser", "end_pos": 541, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser541", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "P26450", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ser279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Tyr467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P26450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Tyr580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Ser608", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26450", "url": "https://www.uniprot.org/uniprotkb/P26450" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P26450", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26450" }, { "database": "PubMed", "id": "17016431", "url": "https://glygen.org/publication/PubMed/17016431" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Met322", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "13", "chr_pos": "101827043", "evidence": [ { "id": "rs243284935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243284935" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Asn325", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNN->NNS).", "chr_id": "13", "chr_pos": "101827034", "evidence": [ { "id": "rs223655548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223655548" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Gly35", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKC).", "chr_id": "13", "chr_pos": "101894065", "evidence": [ { "id": "rs3389303493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389303493" } ] } ] }, { "uniprot_canonical_ac": "P26450-1", "start_pos": "700", "end_pos": "700", "site_lbl": "His700", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HTS->NTS).", "chr_id": "13", "chr_pos": "101821465", "evidence": [ { "id": "rs3389275776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389275776" } ] } ] } ], "record_id": "P26450-1" }, { "uniprot_canonical_ac": "P61588-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 244, "chemical_mass": 27368.0, "gene_names": "Rnd3;2610017M01Rik;Arhe;Rhoe;Rnd3", "protein_name": "Rho-related GTP-binding protein RhoE", "disease": [ { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P61588", "url": "https://www.uniprot.org/uniprotkb/P61588" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P61588-1" }, { "uniprot_canonical_ac": "P60605-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 165, "chemical_mass": 18566.0, "gene_names": "Ube2g2;1110003O05Rik;D10Xrf369;UBC7;Ubc7p;Ubc7;Ube2g2", "protein_name": "Ubiquitin-conjugating enzyme E2 G2", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" } ], "biological_process": [ { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" }, { "name": "negative regulation of retrograde protein transport, ER to cytosol", "id": "GO:1904153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904153", "evidence": [ { "database": "UniProtKB", "id": "P60605", "url": "https://www.uniprot.org/uniprotkb/P60605" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P60605-1" }, { "uniprot_canonical_ac": "Q8R0Y6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 902, "chemical_mass": 98709.0, "gene_names": "Aldh1l1;1810048F20Rik;Aldh1l1;FDH;Fthfd;Neut2", "protein_name": "Cytosolic 10-formyltetrahydrofolate dehydrogenase", "disease": [ { "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 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase [NAD(P)+] activity", "id": "GO:0004030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004030", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "formyltetrahydrofolate dehydrogenase activity", "id": "GO:0016155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016155", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NADP+) activity", "id": "GO:0033721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033721", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" } ], "biological_process": [ { "name": "10-formyltetrahydrofolate catabolic process", "id": "GO:0009258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009258", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "folic acid metabolic process", "id": "GO:0046655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046655", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "NADPH regeneration", "id": "GO:0006740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006740", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" }, { "name": "small molecule metabolic process", "id": "GO:0044281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044281", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0Y6-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36251WT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LTFFNSTLNTSGLVAQGEALPIPGAHRPGLVTKAGLILFGNDDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "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": "Q8R0Y6-1", "start_pos": "878", "end_pos": "878", "site_lbl": "Ser878", "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": 878, "start_aa": "Ser", "end_pos": 878, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser878", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q8R0Y6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8R0Y6" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q8R0Y6-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ser629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ] } ] }, { "uniprot_canonical_ac": "Q8R0Y6-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ] } ] }, { "uniprot_canonical_ac": "Q8R0Y6-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ] } ] }, { "uniprot_canonical_ac": "Q8R0Y6-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0Y6", "url": "https://www.uniprot.org/uniprotkb/Q8R0Y6" } ] } ] } ], "record_id": "Q8R0Y6-1" }, { "uniprot_canonical_ac": "Q61072-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 845, "chemical_mass": 92079.0, "gene_names": "Adam9;Adam9;Kiaa0021;MDC9;Mdc9;Mltng;mKIAA0021", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "disease": [ { "disease_id": "DOID:0111020", "name": "cone-rod dystrophy 9", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.", "url": "https://disease-ontology.org/term/DOID:0111020", "evidence": [ { "id": "0111020", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111020" } ], "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: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: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 }, { "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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "metalloendopeptidase activity involved in amyloid precursor protein catabolic process", "id": "GO:1902945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902945", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of membrane protein ectodomain proteolysis", "id": "GO:0051044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "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": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by integrin", "id": "GO:0033631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033631", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of macrophage fusion", "id": "GO:0034241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034241", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "amyloid precursor protein catabolic process", "id": "GO:0042987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042987", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "membrane protein intracellular domain proteolysis", "id": "GO:0031293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031293", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61072-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Asn144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 144, "start_aa": "Asn", "end_pos": 144, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn144", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Asn154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Asn231", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQTAVREEMIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 231, "start_aa": "Asn", "end_pos": 231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn231", "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" } ] }, { "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": 231, "start_aa": "Asn", "end_pos": 231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn231", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Asn381", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2260", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2260" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2260", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2260" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2260", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2260" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFSSCSAEDFEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "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" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2260", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2260" } ] }, { "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": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Asn487", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 487, "start_aa": "Asn", "end_pos": 487, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn487", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Asn636", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFQCVNASVLNYDCDIQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "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" } ] }, { "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": 636, "start_aa": "Asn", "end_pos": 636, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn636", "evidence": [ { "id": "Q61072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61072#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Asn742", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQANVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 742, "start_aa": "Asn", "end_pos": 742, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn742", "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": "Q61072-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Phe333", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVF->NVS).", "chr_id": "8", "chr_pos": "25480415", "evidence": [ { "id": "rs3388976785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388976785" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Ser478", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SEC->NEC).", "chr_id": "8", "chr_pos": "25468602", "evidence": [ { "id": "rs225252353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225252353" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Arg202", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect shedding activity; when associated with A-205.", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" }, { "database": "PubMed", "id": "25795784", "url": "https://glygen.org/publication/PubMed/25795784" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Arg205", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect shedding activity; when associated with A-203.", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" }, { "database": "PubMed", "id": "25795784", "url": "https://glygen.org/publication/PubMed/25795784" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Glu348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" }, { "database": "PubMed", "id": "19273593", "url": "https://glygen.org/publication/PubMed/19273593" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Arg53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces the shedding activity; when associated with A-56. Does not prevent pro-domain processing between the pro- and metalloprotease domain; when associated with A-56.", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" }, { "database": "PubMed", "id": "25795784", "url": "https://glygen.org/publication/PubMed/25795784" } ] } ] }, { "uniprot_canonical_ac": "Q61072-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Arg56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces the shedding activity; when associated with A-56. Does not prevent pro-domain processing between the pro- and metalloprotease domain; when associated with A-56.", "evidence": [ { "database": "UniProtKB", "id": "Q61072", "url": "https://www.uniprot.org/uniprotkb/Q61072" }, { "database": "PubMed", "id": "25795784", "url": "https://glygen.org/publication/PubMed/25795784" } ] } ] } ], "record_id": "Q61072-1" }, { "uniprot_canonical_ac": "Q9D7B6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 413, "chemical_mass": 45020.0, "gene_names": "Acad8;2310016C19Rik;Acad8", "protein_name": "Isobutyryl-CoA dehydrogenase, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" }, { "name": "L-valine catabolic process", "id": "GO:0006574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006574", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" }, { "name": "branched-chain amino acid catabolic process", "id": "GO:0009083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009083", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" }, { "name": "short-chain 2-methyl fatty acyl-CoA dehydrogenase activity", "id": "GO:0003853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003853", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "Q9D7B6", "url": "https://www.uniprot.org/uniprotkb/Q9D7B6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D7B6-1" }, { "uniprot_canonical_ac": "Q91ZV8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1336, "chemical_mass": 143170.0, "gene_names": "Adgra2;8430414O08Rik;9530074E10Rik;Adgra2;Gpr124;Tem5;mKIAA1531", "protein_name": "Adhesion G protein-coupled receptor A2", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "regulation of chemotaxis", "id": "GO:0050920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050920", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "regulation of establishment of blood-brain barrier", "id": "GO:0090210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090210", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900747", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGSFLGLSLLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "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" } ] }, { "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": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "1296", "end_pos": "1296", "site_lbl": "Asn1296", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RSYPLNTTSLNGAPKGGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1296, "start_aa": "Asn", "end_pos": 1296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1296", "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": "Q91ZV8-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asn162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNISGNIYSSLQPGVFDELPALK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "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" } ] }, { "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": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asn207", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NHSLQLSER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "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": "Q91ZV8-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Asn275", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 275, "start_aa": "Asn", "end_pos": 275, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn275", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Asn602", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PNISLSSFHIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 602, "start_aa": "Asn", "end_pos": 602, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn602", "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" } ] }, { "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": 602, "start_aa": "Asn", "end_pos": 602, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn602", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Asn659", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G30970QQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGNNTSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 659, "start_aa": "Asn", "end_pos": 659, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn659", "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": "Q91ZV8-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Asn691", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVATPVIFAGTSGCGVGNLTEPVAVSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 691, "start_aa": "Asn", "end_pos": 691, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn691", "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" } ] }, { "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": 691, "start_aa": "Asn", "end_pos": 691, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn691", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Asn735", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Asn84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "Q91ZV8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Ser1104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" } ] } ] }, { "uniprot_canonical_ac": "Q91ZV8-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Asp364", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on potentiation of WNT7A signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q91ZV8", "url": "https://www.uniprot.org/uniprotkb/Q91ZV8" }, { "database": "PubMed", "id": "25558062", "url": "https://glygen.org/publication/PubMed/25558062" } ] } ] } ], "record_id": "Q91ZV8-1" }, { "uniprot_canonical_ac": "Q5DTU0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 825, "chemical_mass": 92175.0, "gene_names": "Afap1l2;Afap1l2;Kiaa1914;mKIAA1914", "protein_name": "Actin filament-associated protein 1-like 2", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "regulation of interleukin-6 production", "id": "GO:0032675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032675", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "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": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" }, { "name": "protein tyrosine kinase activator activity", "id": "GO:0030296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030296", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Thr612", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 612, "start_aa": "Thr", "end_pos": 612, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr612", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Asn664", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NRTEAEVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 664, "start_aa": "Asn", "end_pos": 664, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn664", "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": "Q5DTU0-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Asn770", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G11115RO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AEAGPVTLGTTVDTTHLDNMSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 770, "start_aa": "Asn", "end_pos": 770, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn770", "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": "Q5DTU0-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Thr113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5DTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTU0" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5DTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTU0" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Tyr413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q5DTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTU0" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5DTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTU0" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Tyr56", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTU0", "url": "https://www.uniprot.org/uniprotkb/Q5DTU0" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q5DTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTU0" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Lys325", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKC->NKC).", "chr_id": "19", "chr_pos": "56911464", "evidence": [ { "id": "rs3389557321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389557321" } ] } ] }, { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "19", "chr_pos": "56938572", "evidence": [ { "id": "rs254112953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254112953" } ] } ] } ], "record_id": "Q5DTU0-1" }, { "uniprot_canonical_ac": "Q9R0H0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 661, "chemical_mass": 74649.0, "gene_names": "Acox1;AOX;Acox1;Acox;D130055E20Rik;Paox", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "disease": [ { "disease_id": "DOID:0050797", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.", "url": "https://disease-ontology.org/term/DOID:0050797", "evidence": [ { "id": "0050797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050797" } ], "weight": 0.0 }, { "disease_id": "DOID:0070516", "name": "Mitchell syndrome", "description": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.", "url": "https://disease-ontology.org/term/DOID:0070516", "evidence": [ { "id": "0070516", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070516" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA oxidase", "id": "GO:0033540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033540", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "very long-chain fatty acid beta-oxidation", "id": "GO:0140493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140493", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "acyl-CoA oxidase activity", "id": "GO:0003997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003997", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA oxidase activity", "id": "GO:0120524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120524", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0H0-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" } ] } ] }, { "uniprot_canonical_ac": "Q9R0H0-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0H0", "url": "https://www.uniprot.org/uniprotkb/Q9R0H0" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "Q9R0H0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0H0" } ] } ] } ], "record_id": "Q9R0H0-1" }, { "uniprot_canonical_ac": "Q8VHQ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 594, "chemical_mass": 67355.0, "gene_names": "Acot11;1110020M10Rik;2010309H15Rik;Acot11;BFIT1;BFIT;Bfit;Thea;Them1;mKIAA0707", "protein_name": "Acyl-coenzyme A thioesterase 11", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA hydrolase activity", "id": "GO:0052816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052816", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" }, { "name": "thiolester hydrolase activity", "id": "GO:0016790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016790", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHQ9-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Asn19", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPPCTFLGQGFASMFSNR", "relation": "attached", "comment": "reported site N39 is on non-canonical isoform A2AVR6-1 which maps to canonical isoform site Q8VHQ9-1:19", "icn3d_view": {}, "start_pos": 19, "start_aa": "Asn", "end_pos": 19, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "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" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GFASMFSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 19, "start_aa": "Asn", "end_pos": 19, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "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": "Q8VHQ9-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Thr551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 551, "start_aa": "Thr", "end_pos": 551, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr551", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHQ9-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHQ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHQ9" } ] } ] }, { "uniprot_canonical_ac": "Q8VHQ9-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHQ9", "url": "https://www.uniprot.org/uniprotkb/Q8VHQ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHQ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHQ9" } ] } ] } ], "record_id": "Q8VHQ9-1" }, { "uniprot_canonical_ac": "Q5SWU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2345, "chemical_mass": 265257.0, "gene_names": "Acaca;A530025K05Rik;Acaca;Acac;Acc1;Gm738", "protein_name": "Acetyl-CoA carboxylase 1", "disease": [ { "disease_id": "DOID:0060404", "name": "chromosome 17q12 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.", "url": "https://disease-ontology.org/term/DOID:0060404", "evidence": [ { "id": "0060404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060404" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "biotin binding", "id": "GO:0009374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009374", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "malonyl-CoA biosynthetic process", "id": "GO:2001295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001295", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1185", "end_pos": "1185", "site_lbl": "Thr1185", "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": 1185, "start_aa": "Thr", "end_pos": 1185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1185", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q5SWU9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "2091", "end_pos": "2091", "site_lbl": "Ser2091", "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": 2091, "start_aa": "Ser", "end_pos": 2091, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2091", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q5SWU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SWU9" }, { "id": "31010828", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31010828" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "2285", "end_pos": "2285", "site_lbl": "Ser2285", "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": 2285, "start_aa": "Ser", "end_pos": 2285, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2285", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q5SWU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SWU9" }, { "id": "31010828", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31010828" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Thr789", "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": 789, "start_aa": "Thr", "end_pos": 789, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr789", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q5SWU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SWU9" }, { "id": "31010828", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31010828" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Ser966", "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": 966, "start_aa": "Ser", "end_pos": 966, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser966", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q5SWU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SWU9" }, { "id": "31010828", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31010828" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ser1200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Ser1215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1217", "end_pos": "1217", "site_lbl": "Ser1217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1226", "end_pos": "1226", "site_lbl": "Thr1226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1258", "end_pos": "1258", "site_lbl": "Ser1258", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1262", "end_pos": "1262", "site_lbl": "Ser1262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "1272", "end_pos": "1272", "site_lbl": "Ser1272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Thr2152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "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": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "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": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Thr57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Thr609", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "20952656", "url": "https://glygen.org/publication/PubMed/20952656" }, { "database": "iPTMnet", "id": "Q5SWU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SWU9" }, { "database": "PubMed", "id": "22454291", "url": "https://glygen.org/publication/PubMed/22454291" }, { "database": "PubMed", "id": "25050742", "url": "https://glygen.org/publication/PubMed/25050742" }, { "database": "PubMed", "id": "30018077", "url": "https://glygen.org/publication/PubMed/30018077" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Ser834", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SWU9", "url": "https://www.uniprot.org/uniprotkb/Q5SWU9" } ] } ] }, { "uniprot_canonical_ac": "Q5SWU9-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Ala495", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "11", "chr_pos": "84136129", "evidence": [ { "id": "rs3389196534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389196534" } ] } ] } ], "record_id": "Q5SWU9-1" }, { "uniprot_canonical_ac": "Q91YE8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1087, "chemical_mass": 116527.0, "gene_names": "Synpo2;1110069I04Rik;2310068J10Rik;9530006G20Rik;Myo;Synpo2", "protein_name": "Synaptopodin-2", "disease": [], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "filamin binding", "id": "GO:0031005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031005", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "chaperone-mediated autophagy", "id": "GO:0061684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061684", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "regulation of Rho-dependent protein serine/threonine kinase activity", "id": "GO:2000298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000298", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "vesicle tethering complex", "id": "GO:0099023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099023", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" }, { "name": "organelle", "id": "GO:0043226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Asn578", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G79666IR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MFPMNRTAKPFLGSMNQPAAPFSPTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 578, "start_aa": "Asn", "end_pos": 578, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn578", "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": "Q91YE8-1", "start_pos": "897", "end_pos": "897", "site_lbl": "Thr897", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 897, "start_aa": "Thr", "end_pos": 897, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr897", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "990", "end_pos": "990", "site_lbl": "Ser990", "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": 990, "start_aa": "Ser", "end_pos": 990, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser990", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q91YE8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91YE8" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q91YE8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Ser991", "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": 991, "start_aa": "Ser", "end_pos": 991, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser991", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q91YE8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91YE8" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q91YE8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "1008", "end_pos": "1008", "site_lbl": "Ser1008", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Ser1050", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Thr323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Ser555", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" }, { "database": "PubMed", "id": "17923693", "url": "https://glygen.org/publication/PubMed/17923693" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs interaction with YWHAB.", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "15883195", "url": "https://glygen.org/publication/PubMed/15883195" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Ser596", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Thr602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" }, { "database": "PubMed", "id": "17923693", "url": "https://glygen.org/publication/PubMed/17923693" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs interaction with YWHAB.", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "15883195", "url": "https://glygen.org/publication/PubMed/15883195" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Ser603", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Tyr614", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Ser618", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Ser719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Thr744", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Ser767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Ser771", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ser895", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Ser903", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE8", "url": "https://www.uniprot.org/uniprotkb/Q91YE8" } ] } ] }, { "uniprot_canonical_ac": "Q91YE8-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Tyr906", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "3", "chr_pos": "122906599", "evidence": [ { "id": "rs3388662776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662776" } ] } ] } ], "record_id": "Q91YE8-1" }, { "uniprot_canonical_ac": "Q5SSL4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 859, "chemical_mass": 97667.0, "gene_names": "Abr;Abr", "protein_name": "Active breakpoint cluster region-related protein", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of macrophage migration", "id": "GO:1905522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905522", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "neutrophil degranulation", "id": "GO:0043312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043312", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "negative regulation of cellular extravasation", "id": "GO:0002692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002692", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "negative regulation of neutrophil degranulation", "id": "GO:0043314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043314", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "negative regulation of blood vessel remodeling", "id": "GO:0060313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060313", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "macrophage migration", "id": "GO:1905517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905517", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SSL4-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 74, "start_aa": "Thr", "end_pos": 74, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr74", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5SSL4-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SSL4", "url": "https://www.uniprot.org/uniprotkb/Q5SSL4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SSL4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SSL4" } ] } ] }, { "uniprot_canonical_ac": "Q5SSL4-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Thr123", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TAT->NAT).", "chr_id": "11", "chr_pos": "76369846", "evidence": [ { "id": "rs3389182820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389182820" } ] } ] }, { "uniprot_canonical_ac": "Q5SSL4-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "11", "chr_pos": "76399751", "evidence": [ { "id": "rs3389185687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185687" } ] } ] } ], "record_id": "Q5SSL4-1" }, { "uniprot_canonical_ac": "Q9QYC0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 735, "chemical_mass": 80647.0, "gene_names": "Add1;Add1", "protein_name": "Alpha-adducin", "disease": [ { "disease_id": "DOID:0081361", "name": "spastic quadriplegic cerebral palsy 3", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0081361", "evidence": [ { "id": "0081361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081361" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "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 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "hemoglobin metabolic process", "id": "GO:0020027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020027", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "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": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of establishment of endothelial barrier", "id": "GO:1903142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903142", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of adherens junction organization", "id": "GO:1903393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903393", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "regulation of cellular component size", "id": "GO:0032535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032535", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "positive regulation of developmental process", "id": "GO:0051094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051094", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "regulation of multicellular organismal development", "id": "GO:2000026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000026", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "T cell receptor binding", "id": "GO:0042608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042608", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "F-actin capping protein complex", "id": "GO:0008290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008290", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Thr11", "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": 11, "start_aa": "Thr", "end_pos": 11, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr11", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "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": 12, "start_aa": "Ser", "end_pos": 12, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser12", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Thr16", "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": 16, "start_aa": "Thr", "end_pos": 16, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr16", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Thr17", "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": 17, "start_aa": "Thr", "end_pos": 17, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr17", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Thr358", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 358, "start_aa": "Thr", "end_pos": 358, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr358", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "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": 415, "start_aa": "Ser", "end_pos": 415, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser415", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "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": 532, "start_aa": "Ser", "end_pos": 532, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser532", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Thr540", "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": 540, "start_aa": "Thr", "end_pos": 540, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr540", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Ser542", "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": 542, "start_aa": "Ser", "end_pos": 542, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser542", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "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": 557, "start_aa": "Ser", "end_pos": 557, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser557", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "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": 558, "start_aa": "Thr", "end_pos": 558, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr558", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Thr559", "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": 559, "start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYC0" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QYC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYC0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Thr684", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 684, "start_aa": "Thr", "end_pos": 684, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr684", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "34788002", "evidence": [ { "id": "rs230062236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230062236" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Thr331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Thr429", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Ser436", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Ser464", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" }, { "database": "PubMed", "id": "28982183", "url": "https://glygen.org/publication/PubMed/28982183" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Thr480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Ser481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Thr610", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Ser613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Thr614", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Ser705", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Ser708", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Ser712", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Ser714", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYC0-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYC0", "url": "https://www.uniprot.org/uniprotkb/Q9QYC0" } ] } ] } ], "record_id": "Q9QYC0-1" }, { "uniprot_canonical_ac": "P28352-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35490.0, "gene_names": "Apex1;APE;Apex1;Apex;Ape;HAP1;Ref-1;Ref1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "disease": [ { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:13129", "name": "severe pre-eclampsia", "description": "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.", "url": "https://disease-ontology.org/term/DOID:13129", "evidence": [ { "id": "13129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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: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: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: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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "3'-5'-DNA exonuclease activity", "id": "GO:0008296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008296", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "double-stranded telomeric DNA binding", "id": "GO:0003691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003691", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0003906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003906", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "double-stranded DNA exodeoxyribonuclease activity", "id": "GO:0008309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008309", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "double-stranded DNA 3'-5' DNA exonuclease activity", "id": "GO:0008311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008311", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "class II DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0052720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052720", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands", "id": "GO:0090580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090580", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA-(abasic site) binding", "id": "GO:0140431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140431", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "deoxyribonuclease (pyrimidine dimer) activity", "id": "GO:0033892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033892", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of gene expression via chromosomal CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "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": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "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": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "telomere maintenance via base-excision repair", "id": "GO:0097698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097698", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "DNA catabolic process", "id": "GO:0006308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006308", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P28352-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P28352", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28352" } ] } ] }, { "uniprot_canonical_ac": "P28352-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" }, { "database": "iPTMnet", "id": "P28352", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28352" }, { "database": "PubMed", "id": "20473298", "url": "https://glygen.org/publication/PubMed/20473298" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Reduced CDK5-mediated phosphorylation. Confers neuron resistance to MPP(+)/MPTP (1-methyl-4-phenylpyridinium). Loss of CDK5-mediated phosphorylation; when associated with S-53.", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" }, { "database": "PubMed", "id": "20473298", "url": "https://glygen.org/publication/PubMed/20473298" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Confers neuron sensitivity to MPP(+)/MPTP (1-methyl-4-phenylpyridinium).", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" }, { "database": "PubMed", "id": "20473298", "url": "https://glygen.org/publication/PubMed/20473298" } ] } ] }, { "uniprot_canonical_ac": "P28352-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced CDK5-mediated phosphorylation. Loss of CDK5-mediated phosphorylation; when associated with T-232.", "evidence": [ { "database": "UniProtKB", "id": "P28352", "url": "https://www.uniprot.org/uniprotkb/P28352" }, { "database": "PubMed", "id": "20473298", "url": "https://glygen.org/publication/PubMed/20473298" } ] } ] } ], "record_id": "P28352-1" }, { "uniprot_canonical_ac": "Q99LR1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 398, "chemical_mass": 45270.0, "gene_names": "Abhd12;1500011G07Rik;6330583M11Rik;Abhd12", "protein_name": "Lysophosphatidylserine lipase ABHD12", "disease": [ { "disease_id": "DOID:0080181", "name": "PHARC syndrome", "description": "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.", "url": "https://disease-ontology.org/term/DOID:0080181", "evidence": [ { "id": "0080181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080181" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase activity", "id": "GO:0004620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004620", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "monoacylglycerol lipase activity", "id": "GO:0047372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047372", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "phosphatidylcholine lysophospholipase activity", "id": "GO:0004622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004622", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "phosphatidylserine lysophospholipase activity", "id": "GO:0120560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120560", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" } ], "biological_process": [ { "name": "phospholipid catabolic process", "id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "acylglycerol catabolic process", "id": "GO:0046464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046464", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "monoacylglycerol catabolic process", "id": "GO:0052651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052651", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "phosphatidylserine catabolic process", "id": "GO:0006660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006660", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "glycerophospholipid catabolic process", "id": "GO:0046475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046475", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "protein depalmitoylation", "id": "GO:0002084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002084", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q99LR1", "url": "https://www.uniprot.org/uniprotkb/Q99LR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LR1-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Asn123", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 123, "start_aa": "Asn", "end_pos": 123, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn123", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2513" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 123, "start_aa": "Asn", "end_pos": 123, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn123", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2513" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 123, "start_aa": "Asn", "end_pos": 123, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn123", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2513" } ] }, { "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": 123, "start_aa": "Asn", "end_pos": 123, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn123", "evidence": [ { "id": "Q99LR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99LR1#ptm_processing" } ] } ] } ], "record_id": "Q99LR1-1" }, { "uniprot_canonical_ac": "Q9JIX8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1338, "chemical_mass": 150719.0, "gene_names": "Acin1;2610036I19Rik;2610510L13Rik;Acin1;Acinus;Acn;acinusL;acinusS;mKIAA0670", "protein_name": "Apoptotic chromatin condensation inducer in the nucleus", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "ASAP complex", "id": "GO:0061574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061574", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "apoptotic chromosome condensation", "id": "GO:0030263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030263", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "negative regulation of mRNA splicing, via spliceosome", "id": "GO:0048025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048025", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" }, { "name": "regulation of mRNA processing", "id": "GO:0050684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050684", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Asn8", "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": "PNSSGETR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 8, "start_aa": "Asn", "end_pos": 8, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn8", "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": "Q9JIX8-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Ser1003", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "1179", "end_pos": "1179", "site_lbl": "Ser1179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ser166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ser169", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Thr253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "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": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Thr417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Ser657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Ser838", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ser895", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Ser898", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "975", "end_pos": "975", "site_lbl": "Thr975", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "986", "end_pos": "986", "site_lbl": "Ser986", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JIX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "989", "end_pos": "989", "site_lbl": "Ser989", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIX8", "url": "https://www.uniprot.org/uniprotkb/Q9JIX8" } ] } ] }, { "uniprot_canonical_ac": "Q9JIX8-1", "start_pos": "865", "end_pos": "865", "site_lbl": "Ser865", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "14", "chr_pos": "54884182", "evidence": [ { "id": "rs3389327081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389327081" } ] } ] } ], "record_id": "Q9JIX8-1" }, { "uniprot_canonical_ac": "Q8BW75-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 520, "chemical_mass": 58558.0, "gene_names": "Maob;6330414K01Rik;MAO-B;Maob", "protein_name": "Amine oxidase [flavin-containing] B", "disease": [ { "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: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: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 } ], "molecular_function": [ { "name": "monoamine oxidase activity", "id": "GO:0097621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097621", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "primary methylamine oxidase activity", "id": "GO:0008131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008131", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" } ], "biological_process": [ { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "negative regulation of serotonin secretion", "id": "GO:0014063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014063", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "serotonin metabolic process", "id": "GO:0042428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042428", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "positive regulation of dopamine metabolic process", "id": "GO:0045964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045964", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" }, { "name": "phenylethylamine catabolic process", "id": "GO:0019607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019607", "evidence": [ { "database": "UniProtKB", "id": "Q8BW75", "url": "https://www.uniprot.org/uniprotkb/Q8BW75" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BW75-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G48905WL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNKSDVIVVGGGISGMAAAKLLHDCGLSVVVLEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "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" } ] } ] } ], "record_id": "Q8BW75-1" }, { "uniprot_canonical_ac": "Q8BVM7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 383, "chemical_mass": 44916.0, "gene_names": "Flacc1;4933405P16Rik;4933425F06Rik;Als2cr12;Flacc1", "protein_name": "Flagellum-associated coiled-coil domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "outer dense fiber", "id": "GO:0001520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001520", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "pmid": "" }, { "name": "sperm fibrous sheath", "id": "GO:0035686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035686", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM7", "url": "https://www.uniprot.org/uniprotkb/Q8BVM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BVM7-1" }, { "uniprot_canonical_ac": "Q80ZD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 55343.0, "gene_names": "Amigo1;Ali2;Amigo1;Amigo;Kiaa1163;ali2", "protein_name": "Amphoterin-induced protein 1", "disease": [], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "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": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated potassium channel activity", "id": "GO:1903818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903818", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "neuron projection fasciculation", "id": "GO:0106030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106030", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "cellular response to L-glutamate", "id": "GO:1905232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905232", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" }, { "name": "pericellular basket", "id": "GO:1990030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990030", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Asn269", "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": 269, "start_aa": "Asn", "end_pos": 269, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn269", "evidence": [ { "id": "Q80ZD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8#ptm_processing" }, { "id": "21983541", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Asn315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43769HG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VWVSPSNEQVLSQGSNGSVSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 315, "start_aa": "Asn", "end_pos": 315, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn315", "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" } ] }, { "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": 315, "start_aa": "Asn", "end_pos": 315, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn315", "evidence": [ { "id": "Q80ZD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8#ptm_processing" }, { "id": "21983541", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Asn348", "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": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "Q80ZD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8#ptm_processing" }, { "id": "21983541", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Prevents from leaving the ER.", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" }, { "database": "PubMed", "id": "21983541", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Asn359", "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": 359, "start_aa": "Asn", "end_pos": 359, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn359", "evidence": [ { "id": "Q80ZD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8#ptm_processing" }, { "id": "21983541", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80223IX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2127" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QQLPNVPQSLPSYTALLDLSHNNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "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" } ] }, { "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": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "Q80ZD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8#ptm_processing" }, { "id": "21983541", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21983541" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ser476", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80ZD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80ZD8" } ] } ] }, { "uniprot_canonical_ac": "Q80ZD8-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ser480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZD8", "url": "https://www.uniprot.org/uniprotkb/Q80ZD8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80ZD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80ZD8" } ] } ] } ], "record_id": "Q80ZD8-1" }, { "uniprot_canonical_ac": "Q91WG5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 566, "chemical_mass": 62949.0, "gene_names": "Prkag2;2410051C13Rik;AAKG2;AAKG;H91620p;Prkag2;WPWS", "protein_name": "5'-AMP-activated protein kinase subunit gamma-2", "disease": [ { "disease_id": "DOID:0090101", "name": "lethal congenital glycogen storage disease of heart", "description": "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0090101", "evidence": [ { "id": "0090101", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090101" } ], "weight": 0.0 }, { "disease_id": "DOID:0110312", "name": "hypertrophic cardiomyopathy 6", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).", "url": "https://disease-ontology.org/term/DOID:0110312", "evidence": [ { "id": "0110312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110312" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:2747", "name": "glycogen storage disease", "description": "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.", "url": "https://disease-ontology.org/term/DOID:2747", "evidence": [ { "id": "2747", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2747" } ], "weight": 0.0 }, { "disease_id": "DOID:384", "name": "Wolff-Parkinson-White syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:384", "evidence": [ { "id": "384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:384" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "AMP-activated protein kinase activity", "id": "GO:0004679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004679", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase inhibitor activity", "id": "GO:0004862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004862", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase regulator activity", "id": "GO:0008603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008603", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "phosphorylase kinase regulator activity", "id": "GO:0008607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008607", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "nucleotide-activated protein kinase complex", "id": "GO:0031588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031588", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "regulation of fatty acid metabolic process", "id": "GO:0019217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019217", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "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": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "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": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Thr165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "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": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "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": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] }, { "uniprot_canonical_ac": "Q91WG5-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WG5", "url": "https://www.uniprot.org/uniprotkb/Q91WG5" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WG5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WG5" } ] } ] } ], "record_id": "Q91WG5-1" }, { "uniprot_canonical_ac": "Q9DBL1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 432, "chemical_mass": 47874.0, "gene_names": "Acadsb;1300003O09Rik;2-MEBCAD;Acadsb;SBCAD", "protein_name": "Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "short-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0016937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016937", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "short-chain 2-methyl fatty acyl-CoA dehydrogenase activity", "id": "GO:0003853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003853", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" }, { "name": "L-isoleucine catabolic process", "id": "GO:0006550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006550", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBL1-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL1", "url": "https://www.uniprot.org/uniprotkb/Q9DBL1" } ] } ] } ], "record_id": "Q9DBL1-1" }, { "uniprot_canonical_ac": "O08785-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 855, "chemical_mass": 96393.0, "gene_names": "Clock;5330400M04Rik;Clock;KAT13D", "protein_name": "Circadian locomoter output cycles protein kaput", "disease": [ { "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "CLOCK-BMAL transcription complex", "id": "GO:1990513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990513", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "perichromatin fibrils", "id": "GO:0005726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005726", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "chromatoid body", "id": "GO:0033391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033391", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "nuclear lumen", "id": "GO:0031981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031981", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "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": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "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": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "response to redox state", "id": "GO:0051775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051775", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "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": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "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": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "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": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "positive regulation of circadian rhythm", "id": "GO:0042753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042753", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "regulation of hair cycle", "id": "GO:0042634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042634", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "regulation of type B pancreatic cell development", "id": "GO:2000074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000074", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "negative regulation of nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:2000323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000323", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08785-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ser700", "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": 700, "start_aa": "Ser", "end_pos": 700, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser700", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O08785", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O08785" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O08785", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O08785" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Thr707", "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": 707, "start_aa": "Thr", "end_pos": 707, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr707", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O08785", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O08785" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "5", "chr_pos": "76375048", "evidence": [ { "id": "rs3388762473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762473" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Significant decrease in transcriptional activation by the CLOCK-BMAL1 heterodimer. Significant decrease in transcriptional activation by the CLOCK-BMAL1 heterodimer, reduced nuclear localization and DNA-binding; when associated with D-42.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" }, { "database": "PubMed", "id": "19946213", "url": "https://glygen.org/publication/PubMed/19946213" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significant loss of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19946213", "url": "https://glygen.org/publication/PubMed/19946213" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Significant decrease in transcriptional activation by the CLOCK-BMAL1 heterodimer. Significant decrease in transcriptional activation by the CLOCK-BMAL1 heterodimer, reduced nuclear localization and DNA-binding; when associated with D-38.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19414601", "url": "https://glygen.org/publication/PubMed/19414601" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19946213", "url": "https://glygen.org/publication/PubMed/19946213" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significant loss of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "19946213", "url": "https://glygen.org/publication/PubMed/19946213" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Thr451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" }, { "database": "PubMed", "id": "24235147", "url": "https://glygen.org/publication/PubMed/24235147" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Thr461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "iPTMnet", "id": "O08785", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08785" }, { "database": "PubMed", "id": "24235147", "url": "https://glygen.org/publication/PubMed/24235147" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Trp284", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduced BMAL1 binding. Slightly reduced transcriptional activation by the CLOCK-BMAL1 heterodimer.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "22653727", "url": "https://glygen.org/publication/PubMed/22653727" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Leu57", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Reduced BMAL1 binding. Abolishes transcriptional activation by the CLOCK-BMAL1 heterodimer. Abolishes regulation of circadian clock.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "22653727", "url": "https://glygen.org/publication/PubMed/22653727" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Pro656", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-658 and A-659.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Tyr658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-656 and A-659.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Asn659", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-656 and A-658.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Gly669", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-670 and A-672.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-669 and A-672.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Val672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Reduces histone acetyltransferase activity; when associated with A-669 and A-670.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "16678094", "url": "https://glygen.org/publication/PubMed/16678094" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Lys67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decrease in sumoylation and its transcriptional activity. Abolishes sumoylation and interaction with ESR1 and decrease in its transcriptional activity; when associated with R-851.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "23160374", "url": "https://glygen.org/publication/PubMed/23160374" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Leu74", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Reduced BMAL1 binding. Abolishes transcriptional activation by the CLOCK-BMAL1 heterodimer.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "22653727", "url": "https://glygen.org/publication/PubMed/22653727" } ] } ] }, { "uniprot_canonical_ac": "O08785-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Lys851", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decrease in sumoylation and its transcriptional activity. Abolishes sumoylation and interaction with ESR1 and decrease in its transcriptional activity; when associated with R-67.", "evidence": [ { "database": "UniProtKB", "id": "O08785", "url": "https://www.uniprot.org/uniprotkb/O08785" }, { "database": "PubMed", "id": "23160374", "url": "https://glygen.org/publication/PubMed/23160374" } ] } ] } ], "record_id": "O08785-1" }, { "uniprot_canonical_ac": "P63101-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 27771.0, "gene_names": "Ywhaz;1110013I11Rik;14-3-3zeta;Ywhaz", "protein_name": "14-3-3 protein zeta/delta", "disease": [ { "disease_id": "DOID:0070309", "name": "absence epilepsy", "description": "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.", "url": "https://disease-ontology.org/term/DOID:0070309", "evidence": [ { "id": "0070309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070309" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "postsynaptic specialization", "id": "GO:0099572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099572", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" } ], "biological_process": [ { "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": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "respiratory system process", "id": "GO:0003016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003016", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "establishment of Golgi localization", "id": "GO:0051683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051683", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "Golgi reassembly", "id": "GO:0090168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090168", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "histamine secretion by mast cell", "id": "GO:0002553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002553", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "regulation of lysosome organization", "id": "GO:1905671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905671", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "synaptic target recognition", "id": "GO:0008039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008039", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "phosphoserine residue binding", "id": "GO:0050815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050815", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63101-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Asn108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63276XU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FLIPNASQPESK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 108, "start_aa": "Asn", "end_pos": 108, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn108", "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": "P63101-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40206WX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LGLALNFSVFYYEILNSPEKACSLAKTAFDEAIAELDTLSEESYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "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": "P63101-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Asn224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G82347DR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DNLTLWTSDTQGDEAEAGEGGEN", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 224, "start_aa": "Asn", "end_pos": 224, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn224", "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": "P63101-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Tyr179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P63101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63101" }, { "database": "PubMed", "id": "19218246", "url": "https://glygen.org/publication/PubMed/19218246" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P63101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63101" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ser37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P63101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63101" }, { "database": "PubMed", "id": "31076568", "url": "https://glygen.org/publication/PubMed/31076568" } ] } ] }, { "uniprot_canonical_ac": "P63101-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63101", "url": "https://www.uniprot.org/uniprotkb/P63101" }, { "database": "iPTMnet", "id": "P63101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63101" }, { "database": "PubMed", "id": "21189996", "url": "https://glygen.org/publication/PubMed/21189996" }, { "database": "PubMed", "id": "26452228", "url": "https://glygen.org/publication/PubMed/26452228" }, { "database": "PubMed", "id": "9705322", "url": "https://glygen.org/publication/PubMed/9705322" } ] } ] } ], "record_id": "P63101-1" }, { "uniprot_canonical_ac": "Q8BHY3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 960, "chemical_mass": 110916.0, "gene_names": "Ano1;Ano1;Tmem16a", "protein_name": "Anoctamin-1", "disease": [ { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "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": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "calcium-activated cation channel activity", "id": "GO:0005227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "iodide transmembrane transporter activity", "id": "GO:0015111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015111", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "mucus secretion", "id": "GO:0070254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070254", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "iodide transport", "id": "GO:0015705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015705", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "cellular response to peptide", "id": "GO:1901653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901653", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" }, { "name": "glial cell projection elongation", "id": "GO:0106091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106091", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Asn375", "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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8XLR&bu=0&command=select+.B:375;+center+selection;+zoom+selection" }, "start_pos": 375, "start_aa": "Asn", "end_pos": 375, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn375", "evidence": [ { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR|B|375", "database": "", "url": "" }, { "id": "8XLR|A|375", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Asn798", "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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8XLR&bu=0&command=select+.B:798;+center+selection;+zoom+selection" }, "start_pos": 798, "start_aa": "Asn", "end_pos": 798, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn798", "evidence": [ { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR|B|798", "database": "", "url": "" }, { "id": "8XLR|A|798", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Asn806", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8XLR&bu=0&command=select+.B:806;+center+selection;+zoom+selection" }, "start_pos": 806, "start_aa": "Asn", "end_pos": 806, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn806", "evidence": [ { "id": "Q8BHY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3#ptm_processing" }, { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR|B|806", "database": "", "url": "" }, { "id": "8XLR|A|806", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Asn813", "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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8XLR&bu=0&command=select+.B:813;+center+selection;+zoom+selection" }, "start_pos": 813, "start_aa": "Asn", "end_pos": 813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn813", "evidence": [ { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR", "database": "PDB", "url": "https://www.rcsb.org/structure/8XLR" }, { "id": "8XLR|B|813", "database": "", "url": "" }, { "id": "8XLR|A|813", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Glu425", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Increased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Increased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Lys428", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Decreased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Arg515", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "28561733", "url": "https://glygen.org/publication/PubMed/28561733" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Arg535", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "28561733", "url": "https://glygen.org/publication/PubMed/28561733" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Asn546", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ile550", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Low constitutive channel activity. Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] }, { "sequence_org": "I", "sequence_mut": "K", "comment": "Induces phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Ile551", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Induces phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Glu555", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Induces phospholipid scramblase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Lys588", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "23021219", "url": "https://glygen.org/publication/PubMed/23021219" }, { "database": "PubMed", "id": "28561733", "url": "https://glygen.org/publication/PubMed/28561733" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "23021219", "url": "https://glygen.org/publication/PubMed/23021219" }, { "database": "PubMed", "id": "28561733", "url": "https://glygen.org/publication/PubMed/28561733" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Asn591", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Tyr593", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Ile596", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Val599", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Increased threshold for activation by calcium. Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] }, { "sequence_org": "V", "sequence_mut": "K", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] }, { "sequence_org": "V", "sequence_mut": "R", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Arg621", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduced anion permeability and increased cation permeability.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Cys625", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect of cysteine-modifying agent MTSET on ion permeability in contrast to wild-type where MTSET blocks current.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Cys630", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect of cysteine-modifying agent MTSET on ion permeability in contrast to wild-type where MTSET blocks current.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Cys635", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect of cysteine-modifying agent MTSET on ion permeability in contrast to wild-type where MTSET blocks current.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ser639", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Leu643", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Gly644", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] }, { "sequence_org": "G", "sequence_mut": "P", "comment": "Low constitutive channel activity. Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Lys645", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "28561733", "url": "https://glygen.org/publication/PubMed/28561733" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Reduced anion permeability and increased cation permeability.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Asn651", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Glu654", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Gly656", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] }, { "sequence_org": "G", "sequence_mut": "P", "comment": "No effect on threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Pro658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Moderately increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] }, { "sequence_org": "P", "sequence_mut": "G", "comment": "Moderately increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Lys668", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Reduced anion permeability and increased cation permeability.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "18724360", "url": "https://glygen.org/publication/PubMed/18724360" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Gln709", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Phe712", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Decreased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Phe716", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Asn730", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly increased threshold for activation by calcium.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236691", "url": "https://glygen.org/publication/PubMed/29236691" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Asp784", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Tyr791", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "807", "end_pos": "807", "site_lbl": "His807", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Increased permeability to chloride ions.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "29236684", "url": "https://glygen.org/publication/PubMed/29236684" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Asp883", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Increased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] }, { "sequence_org": "D", "sequence_mut": "K", "comment": "Increased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] } ] }, { "uniprot_canonical_ac": "Q8BHY3-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Asp888", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] }, { "sequence_org": "D", "sequence_mut": "K", "comment": "Decreased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Decreased Ca(2+) sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHY3", "url": "https://www.uniprot.org/uniprotkb/Q8BHY3" }, { "database": "PubMed", "id": "33378669", "url": "https://glygen.org/publication/PubMed/33378669" } ] } ] } ], "record_id": "Q8BHY3-1" }, { "uniprot_canonical_ac": "Q9CR21-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 156, "chemical_mass": 17370.0, "gene_names": "Ndufab1;2210401F17Rik;2310039H15Rik;2610003B19Rik;8kDa;9130423F15Rik;ACP;CI-SDAP;Ndufab1;SDAP", "protein_name": "Acyl carrier protein, mitochondrial", "disease": [ { "disease_id": "DOID:0110734", "name": "neurodegeneration with brain iron accumulation", "description": "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.", "url": "https://disease-ontology.org/term/DOID:0110734", "evidence": [ { "id": "0110734", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110734" } ], "weight": 0.0 } ], "biological_process": [ { "name": "iron-sulfur cluster assembly", "id": "GO:0016226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016226", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "protein lipoylation", "id": "GO:0009249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009249", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrial large ribosomal subunit assembly", "id": "GO:1902775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902775", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "[2Fe-2S] cluster assembly", "id": "GO:0044571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044571", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrial [2Fe-2S] assembly complex", "id": "GO:0099128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099128", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "acyl binding", "id": "GO:0000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000035", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "acyl carrier activity", "id": "GO:0000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000036", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" }, { "name": "mitochondrial large ribosomal subunit binding", "id": "GO:0140978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140978", "evidence": [ { "database": "UniProtKB", "id": "Q9CR21", "url": "https://www.uniprot.org/uniprotkb/Q9CR21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CR21-1" }, { "uniprot_canonical_ac": "O08715-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 857, "chemical_mass": 92195.0, "gene_names": "Akap1;AKAP121;AKAP84;Akap1;Akap;DAKAP1;S-AKAP84", "protein_name": "A-kinase anchor protein 1, mitochondrial", "disease": [ { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "negative regulation of dephosphorylation", "id": "GO:0035305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035305", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "protein kinase A regulatory subunit binding", "id": "GO:0034237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034237", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "mitochondrial crista", "id": "GO:0030061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030061", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" }, { "name": "postsynaptic specialization, intracellular component", "id": "GO:0099091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099091", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08715-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "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": 356, "start_aa": "Ser", "end_pos": 356, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser356", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O08715", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O08715" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "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": 366, "start_aa": "Ser", "end_pos": 366, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser366", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O08715", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O08715" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "11", "chr_pos": "88735565", "evidence": [ { "id": "rs3548913014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548913014" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "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": 370, "start_aa": "Ser", "end_pos": 370, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser370", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O08715", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Thr371", "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": 371, "start_aa": "Thr", "end_pos": 371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr371", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O08715", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O08715" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O08715", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O08715" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" }, { "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": "O08715", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" }, { "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": "O08715", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ser164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Thr401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" } ] } ] }, { "uniprot_canonical_ac": "O08715-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08715", "url": "https://www.uniprot.org/uniprotkb/O08715" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "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": "O08715", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08715" } ] } ] } ], "record_id": "O08715-1" }, { "uniprot_canonical_ac": "Q3TCJ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 46943.0, "gene_names": "Abraxas2;Abraxas2;Abro1;C430003P19Rik;Fam175b;Kiaa0157", "protein_name": "BRISC complex subunit Abraxas 2", "disease": [], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "protein K63-linked deubiquitination", "id": "GO:0070536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070536", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "cellular response to freezing", "id": "GO:0071497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071497", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "BRISC complex", "id": "GO:0070552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070552", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "microtubule minus-end", "id": "GO:0036449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036449", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "spindle pole centrosome", "id": "GO:0031616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031616", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TCJ1-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asn167", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ISLAIPNLGNTSQQEYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "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": "Q3TCJ1-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Asn180", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VSSVPNTSQSYAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "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": "Q3TCJ1-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ] } ] }, { "uniprot_canonical_ac": "Q3TCJ1-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ] } ] }, { "uniprot_canonical_ac": "Q3TCJ1-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ] } ] }, { "uniprot_canonical_ac": "Q3TCJ1-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ] } ] }, { "uniprot_canonical_ac": "Q3TCJ1-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TCJ1", "url": "https://www.uniprot.org/uniprotkb/Q3TCJ1" } ] } ] } ], "record_id": "Q3TCJ1-1" }, { "uniprot_canonical_ac": "P47738-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 519, "chemical_mass": 56538.0, "gene_names": "Aldh2;AHD-M1;ALDH-E2;ALDHI;Ahd-1;Ahd-5;Ahd1;Ahd5;Aldh2", "protein_name": "Aldehyde dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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: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:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "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: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: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": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "NADH binding", "id": "GO:0070404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070404", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "carboxylesterase activity", "id": "GO:0106435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106435", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "phenylacetaldehyde dehydrogenase (NAD+) activity", "id": "GO:0008957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008957", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "id": "GO:0016620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016620", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "aldehyde catabolic process", "id": "GO:0046185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046185", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "acetaldehyde metabolic process", "id": "GO:0006117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006117", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "ethanol metabolic process", "id": "GO:0006067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006067", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "regulation of serotonin biosynthetic process", "id": "GO:1905627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905627", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "nitroglycerin metabolic process", "id": "GO:0018937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018937", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "cellular detoxification of aldehyde", "id": "GO:0110095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110095", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" }, { "name": "regulation of dopamine biosynthetic process", "id": "GO:1903179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903179", "evidence": [ { "database": "UniProtKB", "id": "P47738", "url": "https://www.uniprot.org/uniprotkb/P47738" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P47738-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P47738-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Thr358", "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": 358, "start_aa": "Thr", "end_pos": 358, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr358", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P47738", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P47738" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "P47738", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P47738" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "5", "chr_pos": "121710755", "evidence": [ { "id": "rs3388770364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770364" } ] } ] }, { "uniprot_canonical_ac": "P47738-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ile41", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "5", "chr_pos": "121718780", "evidence": [ { "id": "rs3388788822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388788822" } ] } ] } ], "record_id": "P47738-1" }, { "uniprot_canonical_ac": "P31230-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 33997.0, "gene_names": "Aimp1;9830137A06Rik;AIMP1/p43;Aimp1;EMAPII;Emap2;Scye1;p43", "protein_name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 1", "disease": [ { "disease_id": "DOID:0060790", "name": "hypomyelinating leukodystrophy 3", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.", "url": "https://disease-ontology.org/term/DOID:0060790", "evidence": [ { "id": "0060790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060790" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "positive regulation of glucagon secretion", "id": "GO:0070094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070094", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "aminoacyl-tRNA synthetase multienzyme complex", "id": "GO:0017101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017101", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31230-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "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": 142, "start_aa": "Ser", "end_pos": 142, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser142", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "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": 145, "start_aa": "Ser", "end_pos": 145, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser145", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Asn241", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVLSQAMVMCASSPEKVEILAPPNGSVPGDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 241, "start_aa": "Asn", "end_pos": 241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn241", "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": "P31230-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "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": 83, "start_aa": "Ser", "end_pos": 83, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser83", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "3", "chr_pos": "132379866", "evidence": [ { "id": "rs225521672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225521672" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "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": 84, "start_aa": "Thr", "end_pos": 84, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "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": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "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": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "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": 93, "start_aa": "Ser", "end_pos": 93, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser93", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "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": 95, "start_aa": "Ser", "end_pos": 95, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser95", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P31230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31230" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P31230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31230" } ] } ] }, { "uniprot_canonical_ac": "P31230-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31230", "url": "https://www.uniprot.org/uniprotkb/P31230" } ] } ] } ], "record_id": "P31230-1" }, { "uniprot_canonical_ac": "Q9JKW0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 23437.0, "gene_names": "Arl6ip1;AIP-6;ARMER;Aip-1;Arl6ip1;Arl6ip;mKIAA0069", "protein_name": "ADP-ribosylation factor-like protein 6-interacting protein 1", "disease": [ { "disease_id": "DOID:0110812", "name": "hereditary spastic paraplegia 61", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.", "url": "https://disease-ontology.org/term/DOID:0110812", "evidence": [ { "id": "0110812", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110812" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "Sec61 translocon complex", "id": "GO:0005784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005784", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network", "id": "GO:0071782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071782", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "positive regulation of L-glutamate import across plasma membrane", "id": "GO:0002038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002038", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "cotranslational protein targeting to membrane", "id": "GO:0006613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006613", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network formation", "id": "GO:0071787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071787", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network membrane organization", "id": "GO:1990809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990809", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" }, { "name": "regulation of endoplasmic reticulum tubular network organization", "id": "GO:1903371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903371", "evidence": [ { "database": "UniProtKB", "id": "Q9JKW0", "url": "https://www.uniprot.org/uniprotkb/Q9JKW0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JKW0-1" }, { "uniprot_canonical_ac": "P55096-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 659, "chemical_mass": 75475.0, "gene_names": "Abcd3;Abcd3;PMP68;PMP70;Pmp70;Pxmp1", "protein_name": "ATP-binding cassette sub-family D member 3", "disease": [ { "disease_id": "DOID:0111066", "name": "congenital bile acid synthesis defect 5", "description": "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.", "url": "https://disease-ontology.org/term/DOID:0111066", "evidence": [ { "id": "0111066", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111066" } ], "weight": 0.0 }, { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 }, { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.", "url": "https://disease-ontology.org/term/DOID:905", "evidence": [ { "id": "905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:905" } ], "weight": 0.0 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "very long-chain fatty acid catabolic process", "id": "GO:0042760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042760", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "long-chain fatty acid import into peroxisome", "id": "GO:0015910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015910", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "phytanic acid metabolic process", "id": "GO:1903512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903512", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" } ], "molecular_function": [ { "name": "long-chain fatty acid transmembrane transporter activity", "id": "GO:0005324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005324", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P55096-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Asn106", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "P55096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55096#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55096-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 12, "start_aa": "Asn", "end_pos": 12, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn12", "evidence": [ { "id": "P55096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55096#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55096-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "P55096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55096#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55096-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "P55096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55096" } ] } ] }, { "uniprot_canonical_ac": "P55096-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55096", "url": "https://www.uniprot.org/uniprotkb/P55096" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P55096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55096" } ] } ] } ], "record_id": "P55096-1" }, { "uniprot_canonical_ac": "O70174-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 629, "chemical_mass": 70305.0, "gene_names": "Chrna4;Acra-4;Acra4;Chrna4;EBN1;ENFL1", "protein_name": "Neuronal acetylcholine receptor subunit alpha-4", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060682", "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0060682", "evidence": [ { "id": "0060682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060682" } ], "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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "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 } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "dopaminergic synapse", "id": "GO:0098691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098691", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "neurotransmitter receptor complex", "id": "GO:0098878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098878", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "acetylcholine receptor activity", "id": "GO:0015464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015464", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "acetylcholine binding", "id": "GO:0042166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042166", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "quaternary ammonium group binding", "id": "GO:0050997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050997", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005230", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "behavioral response to nicotine", "id": "GO:0035095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035095", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70174-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Asn109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WDPGDYENVTSIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "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" } ] }, { "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": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "O70174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70174#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70174-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asn176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SSCSIDVTFFPFDQQNCTMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "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" } ] }, { "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": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "O70174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70174#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70174-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Asn59", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G87389XI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WSRPVANISDVVLVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 59, "start_aa": "Asn", "end_pos": 59, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "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" } ] }, { "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": 59, "start_aa": "Asn", "end_pos": 59, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "evidence": [ { "id": "O70174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70174#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70174-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" } ] } ] }, { "uniprot_canonical_ac": "O70174-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70174", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70174" } ] } ] }, { "uniprot_canonical_ac": "O70174-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70174", "url": "https://www.uniprot.org/uniprotkb/O70174" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70174", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70174" } ] } ] } ], "record_id": "O70174-1" }, { "uniprot_canonical_ac": "P45952-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 46481.0, "gene_names": "Acadm;Acadm;MCAD", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080153", "name": "medium chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.", "url": "https://disease-ontology.org/term/DOID:0080153", "evidence": [ { "id": "0080153", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080153" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "medium-chain fatty acid metabolic process", "id": "GO:0051791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051791", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "carnitine metabolic process, CoA-linked", "id": "GO:0019254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019254", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "carnitine biosynthetic process", "id": "GO:0045329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045329", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "medium-chain fatty acid catabolic process", "id": "GO:0051793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051793", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "regulation of gluconeogenesis", "id": "GO:0006111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006111", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "organic acid metabolic process", "id": "GO:0006082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006082", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "carnitine metabolic process", "id": "GO:0009437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009437", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" } ], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "medium-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0070991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070991", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "isomerase activity", "id": "GO:0016853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016853", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "perinuclear theca", "id": "GO:0033011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033011", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" }, { "name": "sperm glycocalyx", "id": "GO:0120238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120238", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P45952-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P45952", "url": "https://www.uniprot.org/uniprotkb/P45952" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P45952", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P45952" } ] } ] } ], "record_id": "P45952-1" }, { "uniprot_canonical_ac": "Q8K009-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 923, "chemical_mass": 101590.0, "gene_names": "Aldh1l2;Aldh1l2;D330038I09Rik;mtFDH", "protein_name": "Mitochondrial 10-formyltetrahydrofolate dehydrogenase", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "10-formyltetrahydrofolate catabolic process", "id": "GO:0009258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009258", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "folic acid metabolic process", "id": "GO:0046655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046655", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "NADPH regeneration", "id": "GO:0006740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006740", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "formyltetrahydrofolate dehydrogenase activity", "id": "GO:0016155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016155", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "id": "GO:0016620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016620", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K009-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ] } ] }, { "uniprot_canonical_ac": "Q8K009-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K009", "url": "https://www.uniprot.org/uniprotkb/Q8K009" } ] } ] } ], "record_id": "Q8K009-1" }, { "uniprot_canonical_ac": "Q9QXD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 681, "chemical_mass": 76863.0, "gene_names": "Acox2;Acox2;THCCox", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 2", "disease": [ { "disease_id": "DOID:0070516", "name": "Mitchell syndrome", "description": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.", "url": "https://disease-ontology.org/term/DOID:0070516", "evidence": [ { "id": "0070516", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070516" } ], "weight": 0.0 }, { "disease_id": "DOID:0111067", "name": "congenital bile acid synthesis defect 6", "description": "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.", "url": "https://disease-ontology.org/term/DOID:0111067", "evidence": [ { "id": "0111067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111067" } ], "weight": 0.0 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA oxidase", "id": "GO:0033540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033540", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity", "id": "GO:0033791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033791", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA oxidase activity", "id": "GO:0120524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120524", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "acyl-CoA oxidase activity", "id": "GO:0003997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003997", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXD1-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "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": 371, "start_aa": "Ser", "end_pos": 371, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser371", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q9QXD1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXD1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXD1-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "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": 373, "start_aa": "Ser", "end_pos": 373, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser373", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q9QXD1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXD1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXD1-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXD1-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXD1", "url": "https://www.uniprot.org/uniprotkb/Q9QXD1" } ] } ] } ], "record_id": "Q9QXD1-1" }, { "uniprot_canonical_ac": "Q02152-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 53597.0, "gene_names": "Htr2b;5-HT-2B;5-HT-2F;5-HT2B;Htr2b", "protein_name": "5-hydroxytryptamine receptor 2B", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "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:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor activity", "id": "GO:0004993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004993", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "Gq/11-coupled serotonin receptor activity", "id": "GO:0001587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001587", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor complex", "id": "GO:0098666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098666", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "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": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "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": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "serotonin receptor signaling pathway", "id": "GO:0007210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007210", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol biosynthetic process", "id": "GO:0010513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010513", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "intestine smooth muscle contraction", "id": "GO:0014827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014827", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "phospholipase C-activating serotonin receptor signaling pathway", "id": "GO:0007208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007208", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "cellular response to amine stimulus", "id": "GO:0071418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071418", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "cellular response to serotonin", "id": "GO:1904015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904015", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor signaling pathway", "id": "GO:0098664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098664", "evidence": [ { "database": "UniProtKB", "id": "Q02152", "url": "https://www.uniprot.org/uniprotkb/Q02152" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02152-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Asn29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 29, "start_aa": "Asn", "end_pos": 29, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn29", "evidence": [ { "id": "Q02152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02152#ptm_processing" } ] } ] } ], "record_id": "Q02152-1" }, { "uniprot_canonical_ac": "Q76MZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 589, "chemical_mass": 65323.0, "gene_names": "Ppp2r1a;6330556D22Rik;PP2Aa;PP2A;PR65;Ppp2r1a", "protein_name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform", "disease": [ { "disease_id": "DOID:0070066", "name": "autosomal dominant intellectual developmental disorder 36", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.", "url": "https://disease-ontology.org/term/DOID:0070066", "evidence": [ { "id": "0070066", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070066" } ], "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": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "integrator complex", "id": "GO:0032039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032039", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "FAR/SIN/STRIPAK complex", "id": "GO:0090443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090443", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "INTAC complex", "id": "GO:0160232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160232", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of transcription elongation by RNA polymerase II", "id": "GO:0034243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034243", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "peptidyl-serine dephosphorylation", "id": "GO:0070262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070262", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "meiotic spindle elongation", "id": "GO:0051232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051232", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "mitotic sister chromatid separation", "id": "GO:0051306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051306", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion, centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "regulation of meiotic cell cycle process involved in oocyte maturation", "id": "GO:1903538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903538", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" }, { "name": "protein antigen binding", "id": "GO:1990405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990405", "evidence": [ { "database": "UniProtKB", "id": "Q76MZ3", "url": "https://www.uniprot.org/uniprotkb/Q76MZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q76MZ3-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q76MZ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q76MZ3" }, { "database": "PubMed", "id": "22466704", "url": "https://glygen.org/publication/PubMed/22466704" } ] } ] } ], "record_id": "Q76MZ3-1" }, { "uniprot_canonical_ac": "P41233-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2261, "chemical_mass": 253912.0, "gene_names": "Abca1;ABC-1;Abc1;Abca1", "protein_name": "Phospholipid-transporting ATPase ABCA1", "disease": [ { "disease_id": "DOID:0080957", "name": "primary hypoalphalipoproteinemia 1", "description": "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.", "url": "https://disease-ontology.org/term/DOID:0080957", "evidence": [ { "id": "0080957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080957" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "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:10787", "name": "premature menopause", "description": "An ovarian dysfunction that is the loss of normal ovarian function before age 40.", "url": "https://disease-ontology.org/term/DOID:10787", "evidence": [ { "id": "10787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10787" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "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:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1387", "name": "hypolipoproteinemia", "description": "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.", "url": "https://disease-ontology.org/term/DOID:1387", "evidence": [ { "id": "1387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1387" } ], "weight": 0.0 }, { "disease_id": "DOID:1388", "name": "Tangier disease", "description": "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.", "url": "https://disease-ontology.org/term/DOID:1388", "evidence": [ { "id": "1388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1388" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phospholipid transporter activity", "id": "GO:0005548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005548", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "apolipoprotein A-I binding", "id": "GO:0034186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034186", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor activity", "id": "GO:0034188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034188", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "sphingolipid floppase activity", "id": "GO:0046623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046623", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "floppase activity", "id": "GO:0140328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140328", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "response to laminar fluid shear stress", "id": "GO:0034616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034616", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "protein lipidation", "id": "GO:0006497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006497", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "positive regulation of high-density lipoprotein particle assembly", "id": "GO:0090108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090108", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "response to vitamin B3", "id": "GO:0033552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033552", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "signal release", "id": "GO:0023061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023061", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "protein transmembrane transport", "id": "GO:0071806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071806", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" }, { "name": "peptide secretion", "id": "GO:0002790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002790", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P41233-1", "start_pos": "1144", "end_pos": "1144", "site_lbl": "Asn1144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1144, "start_aa": "Asn", "end_pos": 1144, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1144", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1294", "end_pos": "1294", "site_lbl": "Asn1294", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1294, "start_aa": "Asn", "end_pos": 1294, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1294", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1453", "end_pos": "1453", "site_lbl": "Asn1453", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1453, "start_aa": "Asn", "end_pos": 1453, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1453", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1499", "end_pos": "1499", "site_lbl": "Asn1499", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TADILQNLTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1499, "start_aa": "Asn", "end_pos": 1499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1499", "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" } ] }, { "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": 1499, "start_aa": "Asn", "end_pos": 1499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1499", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Asn14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Asn1504", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISDYLVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1504, "start_aa": "Asn", "end_pos": 1504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1504", "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" } ] }, { "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": 1504, "start_aa": "Asn", "end_pos": 1504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1504", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Asn151", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41978TW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQDFLVDNETFSGFLQHNLSLPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "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" } ] }, { "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": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23763WX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQDFLVDNETFSGFLQHNLSLPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "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" } ] }, { "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": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1637", "end_pos": "1637", "site_lbl": "Asn1637", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43769HG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GENPSQYGITAFNHPLNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1637, "start_aa": "Asn", "end_pos": 1637, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1637", "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" } ] }, { "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": 1637, "start_aa": "Asn", "end_pos": 1637, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1637", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VFLQGYQLHLASLCNGSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 196, "start_aa": "Asn", "end_pos": 196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn196", "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" } ] }, { "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": 196, "start_aa": "Asn", "end_pos": 196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn196", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Asn2044", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2044, "start_aa": "Asn", "end_pos": 2044, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2044", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "2238", "end_pos": "2238", "site_lbl": "Asn2238", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2238, "start_aa": "Asn", "end_pos": 2238, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2238", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->TQT).", "chr_id": "4", "chr_pos": "53034016", "evidence": [ { "id": "rs3388664295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664295" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Asn244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 244, "start_aa": "Asn", "end_pos": 244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn244", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->KST).", "chr_id": "4", "chr_pos": "53095666", "evidence": [ { "id": "rs3388682328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388682328" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Asn292", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QEVMFLTNVNSSSSSTQIYQAVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "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" } ] }, { "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": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Asn337", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 337, "start_aa": "Asn", "end_pos": 337, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn337", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Asn400", "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": "QVMAEVNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 400, "start_aa": "Asn", "end_pos": 400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn400", "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" } ] }, { "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": 400, "start_aa": "Asn", "end_pos": 400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn400", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Asn478", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPEDVQSPNGSVYTWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "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" } ] }, { "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": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Asn489", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G79666IR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAFNETNQAIQTISR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 489, "start_aa": "Asn", "end_pos": 489, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn489", "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" } ] }, { "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": 489, "start_aa": "Asn", "end_pos": 489, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn489", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 521, "start_aa": "Asn", "end_pos": 521, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn521", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Asn820", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 820, "start_aa": "Asn", "end_pos": 820, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn820", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Thr86", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 86, "start_aa": "Thr", "end_pos": 86, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr86", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "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": "YPTPGEAPGVVGNFNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2139", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2139" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2139", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2139" } ] }, { "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": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "P41233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41233#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Ser1042", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05132-1", "kinase_gene_name": "Prkaca", "evidence": [ { "database": "iPTMnet", "id": "P41233", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41233" }, { "database": "PubMed", "id": "12196520", "url": "https://glygen.org/publication/PubMed/12196520" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "1296", "end_pos": "1296", "site_lbl": "Ser1296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" }, { "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": "P41233", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41233" } ] } ] }, { "uniprot_canonical_ac": "P41233-1", "start_pos": "2054", "end_pos": "2054", "site_lbl": "Ser2054", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05132-1", "kinase_gene_name": "Prkaca", "evidence": [ { "database": "iPTMnet", "id": "P41233", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41233" }, { "database": "PubMed", "id": "12196520", "url": "https://glygen.org/publication/PubMed/12196520" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P41233", "url": "https://www.uniprot.org/uniprotkb/P41233" } ] } ] } ], "record_id": "P41233-1" }, { "uniprot_canonical_ac": "P58137-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 35827.0, "gene_names": "Acot8;Acot8;PTE-1;PTE-2;Pte1", "protein_name": "Acyl-coenzyme A thioesterase 8", "disease": [], "molecular_function": [ { "name": "acetyl-CoA hydrolase activity", "id": "GO:0003986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003986", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "succinyl-CoA hydrolase activity", "id": "GO:0004778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004778", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "choloyl-CoA hydrolase activity", "id": "GO:0033882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033882", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "medium-chain fatty acyl-CoA hydrolase activity", "id": "GO:0052815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052815", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA hydrolase activity", "id": "GO:0052816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052816", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "acetoacetyl-CoA hydrolase activity", "id": "GO:0047603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047603", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "hydroxymethylglutaryl-CoA hydrolase activity", "id": "GO:0047994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047994", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "dicarboxylic acid catabolic process", "id": "GO:0043649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043649", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" }, { "name": "negative regulation of glycoprotein biosynthetic process", "id": "GO:0010561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010561", "evidence": [ { "database": "UniProtKB", "id": "P58137", "url": "https://www.uniprot.org/uniprotkb/P58137" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58137-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "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": 278, "start_aa": "Ser", "end_pos": 278, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser278", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P58137", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58137" } ] } ] }, { "uniprot_canonical_ac": "P58137-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "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": 284, "start_aa": "Ser", "end_pos": 284, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser284", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P58137", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58137" } ] } ] }, { "uniprot_canonical_ac": "P58137-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "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": 316, "start_aa": "Ser", "end_pos": 316, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser316", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "P58137", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58137" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P58137", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58137" } ] } ] } ], "record_id": "P58137-1" }, { "uniprot_canonical_ac": "Q3UD01-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UD01", "url": "https://www.uniprot.org/uniprotkb/Q3UD01" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 97, "chemical_mass": 10731.0, "gene_names": "Atxn7l3b;4921506J03Rik;6230409E21Rik;Atxn7l3b", "protein_name": "Ataxin-7-like protein 3B", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UD01", "url": "https://www.uniprot.org/uniprotkb/Q3UD01" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q3UD01", "url": "https://www.uniprot.org/uniprotkb/Q3UD01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UD01-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UD01", "url": "https://www.uniprot.org/uniprotkb/Q3UD01" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UD01", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UD01" } ] } ] } ], "record_id": "Q3UD01-1" }, { "uniprot_canonical_ac": "Q3V1N9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 42649.0, "gene_names": "A3galt2;A3galt2;Gm433;Igb3s;iGb3S;iGb3", "protein_name": "Alpha-1,3-galactosyltransferase 2", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" } ], "biological_process": [ { "name": "glycosphingolipid biosynthetic process", "id": "GO:0006688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006688", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "N-acetyllactosaminide 3-alpha-galactosyltransferase activity", "id": "GO:0047276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047276", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" }, { "name": "alpha-1,3-galactosyltransferase activity", "id": "GO:0001962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001962", "evidence": [ { "database": "UniProtKB", "id": "Q3V1N9", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q3V1N9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "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": 14, "start_aa": "Ser", "end_pos": 14, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser14", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q3V1N9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V1N9" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Asn88", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "Q3V1N9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3V1N9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Leu131", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->NPT); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655932", "evidence": [ { "id": "rs3388707953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388707953" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Gly108", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655863", "evidence": [ { "id": "rs3388701759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388701759" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Tyr147", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660793", "evidence": [ { "id": "rs3388708302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708302" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Met160", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660831", "evidence": [ { "id": "rs3388710720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388710720" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660831", "evidence": [ { "id": "rs3388710720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388710720" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Gln163", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660839", "evidence": [ { "id": "rs3388702273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702273" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Gly183", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660900", "evidence": [ { "id": "rs3388713530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713530" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660959", "evidence": [ { "id": "rs3388713539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713539" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Met207", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660972", "evidence": [ { "id": "rs3388720446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720446" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Thr209", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660978", "evidence": [ { "id": "rs5526837968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526837968" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gly215", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128660996", "evidence": [ { "id": "rs3542819061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542819061" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Phe234", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661053", "evidence": [ { "id": "rs3388714570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388714570" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Glu241", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661073", "evidence": [ { "id": "rs3388713515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713515" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Leu243", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661080", "evidence": [ { "id": "rs3388707863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388707863" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Arg259", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661128", "evidence": [ { "id": "rs3542784554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542784554" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Leu261", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661133", "evidence": [ { "id": "rs3388710704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388710704" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ala272", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661166", "evidence": [ { "id": "rs3388706906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388706906" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Val287", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661211", "evidence": [ { "id": "rs3388701742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388701742" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Ser291", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661224", "evidence": [ { "id": "rs3542784546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542784546" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Pro29", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128653787", "evidence": [ { "id": "rs3542868187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542868187" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "319", "end_pos": "319", "site_lbl": "His319", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661309", "evidence": [ { "id": "rs3388707887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388707887" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "323", "end_pos": "323", "site_lbl": "His323", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661320", "evidence": [ { "id": "rs3388713472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713472" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Glu345", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661385", "evidence": [ { "id": "rs3388691032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388691032" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Arg350", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661400", "evidence": [ { "id": "rs3542833402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542833402" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128661401", "evidence": [ { "id": "rs3542833261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542833261" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Lys40", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655218", "evidence": [ { "id": "rs3388710721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388710721" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Leu43", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655225", "evidence": [ { "id": "rs3388700297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388700297" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Leu49", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655243", "evidence": [ { "id": "rs3388702253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702253" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Gly53", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655256", "evidence": [ { "id": "rs3542764483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542764483" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "59", "end_pos": "59", "site_lbl": "His59", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655274", "evidence": [ { "id": "rs3542774952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542774952" } ] } ] }, { "uniprot_canonical_ac": "Q3V1N9-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Pro85", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "128655500", "evidence": [ { "id": "rs3507750100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507750100" } ] } ] } ], "record_id": "Q3V1N9-1" }, { "uniprot_canonical_ac": "Q6PAL7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1594, "chemical_mass": 168081.0, "gene_names": "Ahdc1;Ahdc1;D030015G18Rik", "protein_name": "Transcription factor Gibbin", "disease": [ { "disease_id": "DOID:0070055", "name": "Xia-Gibbs Syndrome", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.", "url": "https://disease-ontology.org/term/DOID:0070055", "evidence": [ { "id": "0070055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070055" } ], "weight": 0.0 } ], "biological_process": [ { "name": "glycolipid metabolic process", "id": "GO:0006664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006664", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "promoter-enhancer loop anchoring activity", "id": "GO:0140585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140585", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1021", "end_pos": "1021", "site_lbl": "Thr1021", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1021, "start_aa": "Thr", "end_pos": 1021, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1021", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1070", "end_pos": "1070", "site_lbl": "Thr1070", "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": 1070, "start_aa": "Thr", "end_pos": 1070, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1070", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1073", "end_pos": "1073", "site_lbl": "Ser1073", "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": 1073, "start_aa": "Ser", "end_pos": 1073, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1073", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Ser1080", "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": 1080, "start_aa": "Ser", "end_pos": 1080, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1080", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1588", "end_pos": "1588", "site_lbl": "Thr1588", "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": 1588, "start_aa": "Thr", "end_pos": 1588, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1588", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1590", "end_pos": "1590", "site_lbl": "Thr1590", "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": 1590, "start_aa": "Thr", "end_pos": 1590, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1590", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1592", "end_pos": "1592", "site_lbl": "Thr1592", "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": 1592, "start_aa": "Thr", "end_pos": 1592, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1592", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1593", "end_pos": "1593", "site_lbl": "Ser1593", "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": 1593, "start_aa": "Ser", "end_pos": 1593, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1593", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Ser800", "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": 800, "start_aa": "Ser", "end_pos": 800, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser800", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Ser892", "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": 892, "start_aa": "Ser", "end_pos": 892, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser892", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Thr923", "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": 923, "start_aa": "Thr", "end_pos": 923, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr923", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Ser932", "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": 932, "start_aa": "Ser", "end_pos": 932, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser932", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAL7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAL7" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6PAL7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAL7" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1060", "end_pos": "1060", "site_lbl": "Ser1060", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1180", "end_pos": "1180", "site_lbl": "Ser1180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Ser1315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1317", "end_pos": "1317", "site_lbl": "Ser1317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1392", "end_pos": "1392", "site_lbl": "Ser1392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1394", "end_pos": "1394", "site_lbl": "Thr1394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Ser1396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1498", "end_pos": "1498", "site_lbl": "Ser1498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "1540", "end_pos": "1540", "site_lbl": "Ser1540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Ser593", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL7-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Ser842", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL7", "url": "https://www.uniprot.org/uniprotkb/Q6PAL7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAL7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAL7" } ] } ] } ], "record_id": "Q6PAL7-1" }, { "uniprot_canonical_ac": "Q8BUZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 375, "chemical_mass": 42831.0, "gene_names": "Abra;Abra;C130068O12Rik;STARS", "protein_name": "Actin-binding Rho-activating protein", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "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": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "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": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BUZ1-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BUZ1-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BUZ1" } ] } ] } ], "record_id": "Q8BUZ1-1" }, { "uniprot_canonical_ac": "Q8C0T9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1614, "chemical_mass": 186412.0, "gene_names": "Adcy10;4930431D04Rik;4931412F17;Adcy10;Sacy;Sac;sAC", "protein_name": "Adenylate cyclase type 10", "disease": [], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of glycogen catabolic process", "id": "GO:0045819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045819", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "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": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in extracellular fluid movement", "id": "GO:0003351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003351", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to mitochondrion", "id": "GO:1903955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903955", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of cAMP-dependent protein kinase activity", "id": "GO:2000481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000481", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial depolarization", "id": "GO:0051901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051901", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "neuron projection retraction", "id": "GO:0106028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106028", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903378", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell apoptotic process", "id": "GO:1905461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905461", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "mitochondrial ATP transmembrane transport", "id": "GO:1990544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990544", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "regulation of mitophagy", "id": "GO:1901524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901524", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell contraction", "id": "GO:0106135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106135", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cyclic nucleotide biosynthetic process", "id": "GO:0009190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009190", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "bicarbonate binding", "id": "GO:0071890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071890", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "central region of growth cone", "id": "GO:0090724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090724", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "astrocyte end-foot", "id": "GO:0097450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097450", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q8C0T9", "url": "https://www.uniprot.org/uniprotkb/Q8C0T9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C0T9-1" }, { "uniprot_canonical_ac": "Q9CQR4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 140, "chemical_mass": 15183.0, "gene_names": "Acot13;0610006O17Rik;Acot13;Them2", "protein_name": "Acyl-coenzyme A thioesterase 13", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR4", "url": "https://www.uniprot.org/uniprotkb/Q9CQR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQR4-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G11541NC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TLAFASVDLTNKTTGK", "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": "Q9CQR4-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01485JJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GAPGVSVDMNITYMSPAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "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" } ] } ] } ], "record_id": "Q9CQR4-1" }, { "uniprot_canonical_ac": "Q9DBL9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 351, "chemical_mass": 39155.0, "gene_names": "Abhd5;1300003D03Rik;2010002J10Rik;Abhd5;CGI-58;IECN5;NCIE2", "protein_name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5", "disease": [ { "disease_id": "DOID:0050729", "name": "Chanarin-Dorfman syndrome", "description": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.", "url": "https://disease-ontology.org/term/DOID:0050729", "evidence": [ { "id": "0050729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050729" } ], "weight": 0.0 }, { "disease_id": "DOID:0060656", "name": "autosomal recessive congenital ichthyosis 1", "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0060656", "evidence": [ { "id": "0060656", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060656" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "1-acylglycerol-3-phosphate O-acyltransferase activity", "id": "GO:0003841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003841", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "lysophosphatidic acid acyltransferase activity", "id": "GO:0042171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042171", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "phospholipase activity", "id": "GO:0004620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004620", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "lipase activator activity", "id": "GO:0060229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060229", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "positive regulation of lipid catabolic process", "id": "GO:0050996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050996", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBL9-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBL9", "url": "https://www.uniprot.org/uniprotkb/Q9DBL9" } ] } ] }, { "uniprot_canonical_ac": "Q9DBL9-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9DBL9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBL9" }, { "database": "PubMed", "id": "25421061", "url": "https://glygen.org/publication/PubMed/25421061" } ] } ] }, { "uniprot_canonical_ac": "Q9DBL9-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9DBL9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBL9" }, { "database": "PubMed", "id": "25421061", "url": "https://glygen.org/publication/PubMed/25421061" } ] } ] } ], "record_id": "Q9DBL9-1" }, { "uniprot_canonical_ac": "Q9DCD0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 483, "chemical_mass": 53247.0, "gene_names": "Pgd;0610042A05Rik;Pgd", "protein_name": "6-phosphogluconate dehydrogenase, decarboxylating", "disease": [], "biological_process": [ { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "pentose biosynthetic process", "id": "GO:0019322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019322", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "D-gluconate metabolic process", "id": "GO:0019521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019521", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "NADPH regeneration", "id": "GO:0006740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006740", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" } ], "molecular_function": [ { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "phosphogluconate dehydrogenase (decarboxylating) activity", "id": "GO:0004616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004616", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCD0-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCD0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCD0" } ] } ] }, { "uniprot_canonical_ac": "Q9DCD0-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD0", "url": "https://www.uniprot.org/uniprotkb/Q9DCD0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCD0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCD0" } ] } ] } ], "record_id": "Q9DCD0-1" }, { "uniprot_canonical_ac": "Q9ERZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 589, "chemical_mass": 66212.0, "gene_names": "Chrm3;Chrm-3;Chrm3;M3R;M3", "protein_name": "Muscarinic acetylcholine receptor M3", "disease": [ { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0060610", "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome", "description": "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.", "url": "https://disease-ontology.org/term/DOID:0060610", "evidence": [ { "id": "0060610", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060610" } ], "weight": 0.0 }, { "disease_id": "DOID:0060889", "name": "prune belly syndrome", "description": "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0060889", "evidence": [ { "id": "0060889", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060889" } ], "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: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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:365", "name": "bladder disease", "description": "A urinary system disease that is located_in the bladder.", "url": "https://disease-ontology.org/term/DOID:365", "evidence": [ { "id": "365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:365" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" } ], "biological_process": [ { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007207", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007213", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "saliva secretion", "id": "GO:0046541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046541", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle contraction", "id": "GO:1904695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904695", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "negative regulation of heart rate by acetylcholine", "id": "GO:0003063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003063", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled acetylcholine receptor activity", "id": "GO:0016907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016907", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "acetylcholine binding", "id": "GO:0042166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042166", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "G protein-coupled acetylcholine receptor binding", "id": "GO:0031789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031789", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" }, { "name": "quaternary ammonium group binding", "id": "GO:0050997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050997", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Asn15", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 15, "start_aa": "Asn", "end_pos": 15, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "evidence": [ { "id": "Q9ERZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "Q9ERZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "Q9ERZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asn52", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "Q9ERZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Asn6", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 6, "start_aa": "Asn", "end_pos": 6, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn6", "evidence": [ { "id": "Q9ERZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ3", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ3" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ3-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDI).", "chr_id": "13", "chr_pos": "9928874", "evidence": [ { "id": "rs51848247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51848247" } ] } ] } ], "record_id": "Q9ERZ3-1" }, { "uniprot_canonical_ac": "Q9QXM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 425, "chemical_mass": 48378.0, "gene_names": "Abhd2;2210009N18Rik;Abhd2;LABH2;Labh-2;Labh2", "protein_name": "Monoacylglycerol lipase ABHD2", "disease": [], "biological_process": [ { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "acylglycerol catabolic process", "id": "GO:0046464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046464", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "acrosome reaction", "id": "GO:0007340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007340", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "steroid hormone receptor signaling pathway", "id": "GO:0043401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043401", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "medium-chain fatty acid catabolic process", "id": "GO:0051793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051793", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "medium-chain fatty acid biosynthetic process", "id": "GO:0051792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051792", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoacylglycerol lipase activity", "id": "GO:0047372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047372", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "acetylesterase activity", "id": "GO:0008126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008126", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "diacylglycerol lipase activity", "id": "GO:0120516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120516", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "sperm plasma membrane", "id": "GO:0097524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097524", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "Q9QXM0", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXM0-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Asn136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q9QXM0-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Asn410", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 410, "start_aa": "Asn", "end_pos": 410, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn410", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QXM0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] } ], "record_id": "Q9QXM0-1" }, { "uniprot_canonical_ac": "Q9QY84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 49451.0, "gene_names": "Actl7a;Actl7a;Tact2", "protein_name": "Actin-like protein 7A", "disease": [ { "disease_id": "DOID:0070585", "name": "spermatogenic failure 86", "description": "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.", "url": "https://disease-ontology.org/term/DOID:0070585", "evidence": [ { "id": "0070585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070585" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:3191", "name": "nemaline myopathy", "description": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.", "url": "https://disease-ontology.org/term/DOID:3191", "evidence": [ { "id": "3191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3191" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:422", "name": "congenital structural myopathy", "description": "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.", "url": "https://disease-ontology.org/term/DOID:422", "evidence": [ { "id": "422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:422" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "perinuclear theca", "id": "GO:0033011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033011", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" } ], "biological_process": [ { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY84-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "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": 384, "start_aa": "Ser", "end_pos": 384, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser384", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q9QY84", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QY84" } ] } ] }, { "uniprot_canonical_ac": "Q9QY84-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ala250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Homozygous knockin male mice are infertile. The spermatogenesis process is normal. However spermatozoa dysplay acrosomal ultrastructural defects. Complete absence of the ACTL7A protein in both testes and sperms. Abnormal distribution of PLCZ1 in sperms.", "evidence": [ { "database": "UniProtKB", "id": "Q9QY84", "url": "https://www.uniprot.org/uniprotkb/Q9QY84" }, { "database": "PubMed", "id": "32923619", "url": "https://glygen.org/publication/PubMed/32923619" } ] } ] } ], "record_id": "Q9QY84-1" }, { "uniprot_canonical_ac": "Q8BWN8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 46481.0, "gene_names": "Acot4;Acot4;B430212I04Rik;PTE-Ib;Pte1b;Pte2b", "protein_name": "Peroxisomal succinyl-coenzyme A thioesterase", "disease": [], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "succinyl-CoA metabolic process", "id": "GO:0006104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006104", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "saturated monocarboxylic acid metabolic process", "id": "GO:0032788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032788", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "unsaturated monocarboxylic acid metabolic process", "id": "GO:0032789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032789", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "dicarboxylic acid metabolic process", "id": "GO:0043648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043648", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "dicarboxylic acid catabolic process", "id": "GO:0043649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043649", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "short-chain fatty acid metabolic process", "id": "GO:0046459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046459", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" } ], "molecular_function": [ { "name": "succinyl-CoA hydrolase activity", "id": "GO:0004778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004778", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8BWN8", "url": "https://www.uniprot.org/uniprotkb/Q8BWN8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BWN8-1" }, { "uniprot_canonical_ac": "Q9JI91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 894, "chemical_mass": 103834.0, "gene_names": "Actn2;1110008F24Rik;Actn2", "protein_name": "Alpha-actinin-2", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0081342", "name": "congenital myopathy 8", "description": "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe.", "url": "https://disease-ontology.org/term/DOID:0081342", "evidence": [ { "id": "0081342", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081342" } ], "weight": 0.0 }, { "disease_id": "DOID:0110428", "name": "dilated cardiomyopathy 1AA", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0110428", "evidence": [ { "id": "0110428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110428" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "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": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "striated muscle thin filament", "id": "GO:0005865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005865", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic actin cytoskeleton", "id": "GO:0098973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098973", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "titin binding", "id": "GO:0031432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031432", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "FATZ binding", "id": "GO:0051373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051373", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "titin Z domain binding", "id": "GO:0070080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070080", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "channel activator activity", "id": "GO:0099103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099103", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "microspike assembly", "id": "GO:0030035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030035", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "phospholipase C-activating angiotensin-activated signaling pathway", "id": "GO:0086097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086097", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "actin filament uncapping", "id": "GO:0051695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051695", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "negative regulation of protein localization to cell surface", "id": "GO:2000009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000009", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "positive regulation of endocytic recycling", "id": "GO:2001137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001137", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JI91-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Asn714", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HTNYTMEHIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 714, "start_aa": "Asn", "end_pos": 714, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn714", "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": "Q9JI91-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Thr237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JI91", "url": "https://www.uniprot.org/uniprotkb/Q9JI91" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JI91", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JI91" } ] } ] } ], "record_id": "Q9JI91-1" }, { "uniprot_canonical_ac": "Q3UNX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 580, "chemical_mass": 65623.0, "gene_names": "Acsm3;Acsm3;Sah;Sa", "protein_name": "Acyl-coenzyme A synthetase ACSM3, mitochondrial", "disease": [ { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "fatty-acyl-CoA synthase activity", "id": "GO:0004321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004321", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "fatty acid ligase activity", "id": "GO:0015645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015645", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "propionate CoA-transferase activity", "id": "GO:0018729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018729", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "propionate-CoA ligase activity", "id": "GO:0050218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050218", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "2-methylbutanoate-CoA ligase activity", "id": "GO:0043759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043759", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q3UNX5", "url": "https://www.uniprot.org/uniprotkb/Q3UNX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UNX5-1" }, { "uniprot_canonical_ac": "Q9DBK0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 556, "chemical_mass": 61762.0, "gene_names": "Acot12;1300004O04Rik;4930449F15Rik;Acot12;CACH-1;Cach1;Cach;mCACH-1", "protein_name": "Acetyl-coenzyme A thioesterase", "disease": [ { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "acetyl-CoA hydrolase activity", "id": "GO:0003986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003986", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "Q9DBK0", "url": "https://www.uniprot.org/uniprotkb/Q9DBK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DBK0-1" }, { "uniprot_canonical_ac": "Q9QYR9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 453, "chemical_mass": 49657.0, "gene_names": "Acot2;Acot2;MTE-I;Mte1", "protein_name": "Acyl-coenzyme A thioesterase 2, mitochondrial", "disease": [ { "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 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA catabolic process", "id": "GO:0036116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036116", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA hydrolase activity", "id": "GO:0052816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052816", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR9", "url": "https://www.uniprot.org/uniprotkb/Q9QYR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QYR9-1" }, { "uniprot_canonical_ac": "Q6ZPS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1085, "chemical_mass": 121876.0, "gene_names": "Ankib1;2310061P20Rik;4631416I11Rik;Ankib1;Kiaa1386;mKIAA1386", "protein_name": "Ankyrin repeat and IBR domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZPS6-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "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": "GNTTTKFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "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": "Q6ZPS6-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Thr481", "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": 481, "start_aa": "Thr", "end_pos": 481, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr481", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q6ZPS6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZPS6" }, { "id": "Q6ZPS6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZPS6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPS6-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6ZPS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPS6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPS6-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Ser879", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPS6-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Ser906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPS6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPS6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPS6-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Asp825", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "5", "chr_pos": "3743816", "evidence": [ { "id": "rs3388731052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731052" } ] } ] } ], "record_id": "Q6ZPS6-1" }, { "uniprot_canonical_ac": "Q7TQF7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 686, "chemical_mass": 75013.0, "gene_names": "Amph;Amph1;Amph", "protein_name": "Amphiphysin", "disease": [ { "disease_id": "DOID:0111220", "name": "centronuclear myopathy 2", "description": "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.", "url": "https://disease-ontology.org/term/DOID:0111220", "evidence": [ { "id": "0111220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111220" } ], "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": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "extrinsic component of synaptic vesicle membrane", "id": "GO:0098850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098850", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "leading edge membrane", "id": "GO:0031256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031256", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "presynaptic endocytic zone", "id": "GO:0098833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098833", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" } ], "biological_process": [ { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Thr274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 274, "start_aa": "Thr", "end_pos": 274, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Thr335", "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": 335, "start_aa": "Thr", "end_pos": 335, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr335", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q7TQF7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Thr444", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 444, "start_aa": "Thr", "end_pos": 444, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr444", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Asn680", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLFPENFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 680, "start_aa": "Asn", "end_pos": 680, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn680", "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": "Q7TQF7-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Thr260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Thr280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q3UTQ8-1", "kinase_gene_name": "Cdkl5", "evidence": [ { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" }, { "database": "PubMed", "id": "23651931", "url": "https://glygen.org/publication/PubMed/23651931" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] }, { "uniprot_canonical_ac": "Q7TQF7-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ser629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQF7", "url": "https://www.uniprot.org/uniprotkb/Q7TQF7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQF7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQF7" } ] } ] } ], "record_id": "Q7TQF7-1" }, { "uniprot_canonical_ac": "Q8R0T6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 542, "chemical_mass": 60072.0, "gene_names": "Adgrg3;A030001G24Rik;Adgrg3;Gpr97;Pb1;Pb99", "protein_name": "Adhesion G protein-coupled receptor G3", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" }, { "name": "negative regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901223", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T6", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0T6-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "Q8R0T6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T6-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Asn408", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 408, "start_aa": "Asn", "end_pos": 408, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn408", "evidence": [ { "id": "Q8R0T6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T6-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "Q8R0T6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T6-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asn96", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "Q8R0T6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R0T6#ptm_processing" } ] } ] } ], "record_id": "Q8R0T6-1" }, { "uniprot_canonical_ac": "O70200-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 147, "chemical_mass": 16911.0, "gene_names": "Aif1;AIF-1;Aif1;D17H6S50E;G1;Iba1", "protein_name": "Allograft inflammatory factor 1", "disease": [ { "disease_id": "DOID:10554", "name": "meningoencephalitis", "description": "A central nervous system disease that involves encephalitis which occurs along with meningitis.", "url": "https://disease-ontology.org/term/DOID:10554", "evidence": [ { "id": "10554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10554" } ], "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:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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 }, { "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:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "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: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 } ], "biological_process": [ { "name": "parallel actin filament bundle assembly", "id": "GO:0030046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030046", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of mononuclear cell migration", "id": "GO:0071677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071677", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "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": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of muscle hyperplasia", "id": "GO:0014739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014739", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell chemotaxis", "id": "GO:0071672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071672", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell chemotaxis", "id": "GO:0071673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071673", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor production", "id": "GO:0090271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090271", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" } ], "cellular_component": [ { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O70200", "url": "https://www.uniprot.org/uniprotkb/O70200" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O70200-1" }, { "uniprot_canonical_ac": "O09174-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 381, "chemical_mass": 41704.0, "gene_names": "Amacr;Amacr;Macr1", "protein_name": "Alpha-methylacyl-CoA racemase", "disease": [ { "disease_id": "DOID:0060602", "name": "alpha-methylacyl-CoA racemase deficiency", "description": "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.", "url": "https://disease-ontology.org/term/DOID:0060602", "evidence": [ { "id": "0060602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111068", "name": "congenital bile acid synthesis defect 4", "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.", "url": "https://disease-ontology.org/term/DOID:0111068", "evidence": [ { "id": "0111068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111068" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "alpha-methylacyl-CoA racemase activity", "id": "GO:0008111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008111", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" }, { "name": "isoprenoid catabolic process", "id": "GO:0008300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008300", "evidence": [ { "database": "UniProtKB", "id": "O09174", "url": "https://www.uniprot.org/uniprotkb/O09174" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O09174-1" }, { "uniprot_canonical_ac": "Q61549-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 931, "chemical_mass": 102130.0, "gene_names": "Adgre1;Adgre1;DD7A5-7;EGF-TM7;Emr1;F4/80;Gpf480;Ly71;TM7LN3", "protein_name": "Adhesion G protein-coupled receptor E1", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q61549", "url": "https://www.uniprot.org/uniprotkb/Q61549" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61549-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Asn148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->ICS).", "chr_id": "17", "chr_pos": "57709787", "evidence": [ { "id": "rs3389478081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478081" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asn167", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Asn229", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 229, "start_aa": "Asn", "end_pos": 229, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn229", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Asn269", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 269, "start_aa": "Asn", "end_pos": 269, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn269", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Asn405", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 405, "start_aa": "Asn", "end_pos": 405, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn405", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Asn474", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 474, "start_aa": "Asn", "end_pos": 474, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn474", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Asn498", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENESINLAAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 498, "start_aa": "Asn", "end_pos": 498, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn498", "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" } ] }, { "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": 498, "start_aa": "Asn", "end_pos": 498, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn498", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61549-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Asn706", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 706, "start_aa": "Asn", "end_pos": 706, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn706", "evidence": [ { "id": "Q61549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61549#ptm_processing" } ] } ] } ], "record_id": "Q61549-1" }, { "uniprot_canonical_ac": "Q7TPR4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 892, "chemical_mass": 103068.0, "gene_names": "Actn1;3110023F10Rik;Actn1a;Actn1", "protein_name": "Alpha-actinin-1", "disease": [ { "disease_id": "DOID:0111053", "name": "platelet-type bleeding disorder 15", "description": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.", "url": "https://disease-ontology.org/term/DOID:0111053", "evidence": [ { "id": "0111053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111053" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "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": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "dense core granule membrane", "id": "GO:0032127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032127", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "fascia adherens", "id": "GO:0005916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005916", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "vinculin binding", "id": "GO:0017166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017166", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cytoskeletal regulatory protein binding", "id": "GO:0005519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005519", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "structural constituent of postsynapse", "id": "GO:0099186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099186", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "platelet morphogenesis", "id": "GO:0036344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036344", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "actin filament network formation", "id": "GO:0051639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051639", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Tyr12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Ser471", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Val105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Shows less organization of the circumferential actin-filament network compared to controls.", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" }, { "database": "PubMed", "id": "23434115", "url": "https://glygen.org/publication/PubMed/23434115" } ] } ] }, { "uniprot_canonical_ac": "Q7TPR4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gln32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Shows less organization of the circumferential actin-filament network compared to controls.", "evidence": [ { "database": "UniProtKB", "id": "Q7TPR4", "url": "https://www.uniprot.org/uniprotkb/Q7TPR4" }, { "database": "PubMed", "id": "23434115", "url": "https://glygen.org/publication/PubMed/23434115" } ] } ] } ], "record_id": "Q7TPR4-1" }, { "uniprot_canonical_ac": "Q8BGA8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 578, "chemical_mass": 64328.0, "gene_names": "Acsm5;Acsm5;C730019D22;C730027J19Rik;Macs3", "protein_name": "Acyl-coenzyme A synthetase ACSM5, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "fatty-acyl-CoA synthase activity", "id": "GO:0004321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004321", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "fatty acid ligase activity", "id": "GO:0015645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015645", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q8BGA8", "url": "https://www.uniprot.org/uniprotkb/Q8BGA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGA8-1" }, { "uniprot_canonical_ac": "Q8R010-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 35378.0, "gene_names": "Aimp2;Aimp2(p38);Aimp2;Jtv1", "protein_name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2", "disease": [ { "disease_id": "DOID:0070404", "name": "hypomyelinating leukodystrophy 17", "description": "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.", "url": "https://disease-ontology.org/term/DOID:0070404", "evidence": [ { "id": "0070404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070404" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "aminoacyl-tRNA synthetase multienzyme complex", "id": "GO:0017101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017101", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "type II pneumocyte differentiation", "id": "GO:0060510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060510", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R010-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R010", "url": "https://www.uniprot.org/uniprotkb/Q8R010" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R010", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R010" } ] } ] } ], "record_id": "Q8R010-1" }, { "uniprot_canonical_ac": "Q8R2Z0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 308, "chemical_mass": 33267.0, "gene_names": "C1qtnf12;1110035L05Rik;C1qdc2;C1qtnf12;CTRP12;Ctrp12;Fam132a;alipolin", "protein_name": "Adipolin", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "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": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" }, { "name": "regulation of D-glucose import", "id": "GO:0046324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046324", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "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": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "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": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R2Z0-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VDSPNITTSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "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" } ] }, { "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": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q8R2Z0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0#ptm_processing" }, { "id": "22942287", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22942287" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" }, { "database": "PubMed", "id": "22942287", "url": "https://glygen.org/publication/PubMed/22942287" } ] } ] }, { "uniprot_canonical_ac": "Q8R2Z0-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Asp286", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "4", "chr_pos": "156050888", "evidence": [ { "id": "rs3388737404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737404" } ] } ] }, { "uniprot_canonical_ac": "Q8R2Z0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Cys85", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes multimeric complex formation.", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" }, { "database": "PubMed", "id": "22942287", "url": "https://glygen.org/publication/PubMed/22942287" } ] } ] }, { "uniprot_canonical_ac": "Q8R2Z0-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Enhances protein processing.", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z0" }, { "database": "PubMed", "id": "22942287", "url": "https://glygen.org/publication/PubMed/22942287" } ] } ] } ], "record_id": "Q8R2Z0-1" }, { "uniprot_canonical_ac": "Q9CPY7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 519, "chemical_mass": 56141.0, "gene_names": "Lap3;2410015L10Rik;LAP-3;Lap3;Lapep;Lap;Pep-7;Pep-S;Pep7;Peps", "protein_name": "Cytosol aminopeptidase", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" } ], "molecular_function": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CPY7-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" }, { "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": "Q9CPY7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CPY7" } ] } ] }, { "uniprot_canonical_ac": "Q9CPY7-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ] } ] }, { "uniprot_canonical_ac": "Q9CPY7-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ser238", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CPY7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CPY7" } ] } ] }, { "uniprot_canonical_ac": "Q9CPY7-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPY7", "url": "https://www.uniprot.org/uniprotkb/Q9CPY7" } ] } ] } ], "record_id": "Q9CPY7-1" }, { "uniprot_canonical_ac": "Q9DBT5-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 824, "chemical_mass": 94696.0, "gene_names": "Ampd2;1200014F01Rik;Ampd-2;Ampd2;m4521Dajl", "protein_name": "AMP deaminase 2", "disease": [ { "disease_id": "DOID:0060264", "name": "pontocerebellar hypoplasia", "description": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.", "url": "https://disease-ontology.org/term/DOID:0060264", "evidence": [ { "id": "0060264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060264" } ], "weight": 0.0 }, { "disease_id": "DOID:0060278", "name": "pontocerebellar hypoplasia type 9", "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.", "url": "https://disease-ontology.org/term/DOID:0060278", "evidence": [ { "id": "0060278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060278" } ], "weight": 0.0 }, { "disease_id": "DOID:0110814", "name": "hereditary spastic paraplegia 63", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0110814", "evidence": [ { "id": "0110814", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110814" } ], "weight": 0.0 } ], "biological_process": [ { "name": "AMP metabolic process", "id": "GO:0046033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046033", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "nucleotide metabolic process", "id": "GO:0009117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009117", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "IMP biosynthetic process", "id": "GO:0006188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006188", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "cyclic purine nucleotide metabolic process", "id": "GO:0052652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052652", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "podocyte development", "id": "GO:0072015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072015", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "GMP salvage", "id": "GO:0032263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032263", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" }, { "name": "AMP deaminase activity", "id": "GO:0003876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003876", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9DBT5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" }, { "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": "Q9DBT5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9DBT5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBT5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBT5-2", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBT5", "url": "https://www.uniprot.org/uniprotkb/Q9DBT5" } ] } ] } ], "record_id": "Q9DBT5-2" }, { "uniprot_canonical_ac": "Q9JLJ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 494, "chemical_mass": 53515.0, "gene_names": "Aldh9a1;Abaldh;Aldh9a1;ESTM40;TMABA-DH;Tmabadh", "protein_name": "4-trimethylaminobutyraldehyde dehydrogenase", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "formaldehyde dehydrogenase (NAD+) activity", "id": "GO:0018467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018467", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "id": "GO:0016620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016620", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "aminobutyraldehyde dehydrogenase (NAD+) activity", "id": "GO:0019145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019145", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "4-trimethylammoniobutyraldehyde dehydrogenase activity", "id": "GO:0047105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047105", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "amine binding", "id": "GO:0043176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043176", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "acetaldehyde dehydrogenase (NAD+) activity", "id": "GO:0140087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140087", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "carnitine biosynthetic process", "id": "GO:0045329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045329", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "carnitine metabolic process", "id": "GO:0009437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009437", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" }, { "name": "serotonin catabolic process", "id": "GO:0042429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042429", "evidence": [ { "database": "UniProtKB", "id": "Q9JLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JLJ2-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Thr374", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 374, "start_aa": "Thr", "end_pos": 374, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr374", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9JLJ2-1" }, { "uniprot_canonical_ac": "Q9QZQ1-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1820, "chemical_mass": 206499.0, "gene_names": "Afdn;5033403D15Rik;AF6;Af-6;Af6;Afadin;Afdn;Gm314;I-afadin;Mllt4;S-afadin", "protein_name": "Afadin", "disease": [ { "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: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 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "dendrite arborization", "id": "GO:0140059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140059", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000049", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "neuroepithelial cell differentiation", "id": "GO:0060563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060563", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "positive regulation of mini excitatory postsynaptic potential", "id": "GO:0061885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061885", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "establishment of endothelial intestinal barrier", "id": "GO:0090557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090557", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "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": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "adherens junction maintenance", "id": "GO:0034334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034334", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "radial glial cell differentiation", "id": "GO:0060019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060019", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070445", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "protein localization to cell junction", "id": "GO:1902414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902414", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "establishment of protein localization to plasma membrane", "id": "GO:0061951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061951", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "postsynaptic specialization organization", "id": "GO:0099084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099084", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cell-cell contact zone", "id": "GO:0044291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044291", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1352", "end_pos": "1352", "site_lbl": "Thr1352", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1352, "start_aa": "Thr", "end_pos": 1352, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1352", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "14108488", "evidence": [ { "id": "rs3389435134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435134" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "462", "end_pos": "462", "site_lbl": "Thr462", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 462, "start_aa": "Thr", "end_pos": 462, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr462", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Ser1107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Ser1126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Ser1140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1143", "end_pos": "1143", "site_lbl": "Ser1143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Ser1172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1173", "end_pos": "1173", "site_lbl": "Ser1173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1182", "end_pos": "1182", "site_lbl": "Ser1182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1199", "end_pos": "1199", "site_lbl": "Ser1199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Thr1232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1238", "end_pos": "1238", "site_lbl": "Ser1238", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1275", "end_pos": "1275", "site_lbl": "Ser1275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1328", "end_pos": "1328", "site_lbl": "Ser1328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1330", "end_pos": "1330", "site_lbl": "Thr1330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1499", "end_pos": "1499", "site_lbl": "Ser1499", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1510", "end_pos": "1510", "site_lbl": "Ser1510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Ser1694", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1719", "end_pos": "1719", "site_lbl": "Ser1719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ser1770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "1795", "end_pos": "1795", "site_lbl": "Ser1795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" }, { "database": "PubMed", "id": "33963248", "url": "https://glygen.org/publication/PubMed/33963248" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "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": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9QZQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "562", "end_pos": "562", "site_lbl": "Ser562", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZQ1", "url": "https://www.uniprot.org/uniprotkb/Q9QZQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QZQ1-3", "start_pos": "868", "end_pos": "868", "site_lbl": "Ser868", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STC->NTC).", "chr_id": "17", "chr_pos": "14072636", "evidence": [ { "id": "rs3389433017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433017" } ] } ] } ], "record_id": "Q9QZQ1-3" }, { "uniprot_canonical_ac": "Q9WTQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1684, "chemical_mass": 180695.0, "gene_names": "Akap12;Akap12;Gag12;SSeCKS;Srcs5;Ssecks;Tsga12", "protein_name": "A-kinase anchor protein 12", "disease": [ { "disease_id": "DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.", "url": "https://disease-ontology.org/term/DOID:0050458", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "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: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 } ], "biological_process": [ { "name": "hepatic stellate cell activation", "id": "GO:0035733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035733", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "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": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "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": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "regulation of protein kinase C signaling", "id": "GO:0090036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090036", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "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": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell migration", "id": "GO:0061870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061870", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte apoptotic process", "id": "GO:1900143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900143", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ser861", "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": 861, "start_aa": "Ser", "end_pos": 861, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser861", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9WTQ5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WTQ5" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WTQ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Thr926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 926, "start_aa": "Thr", "end_pos": 926, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr926", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Ser1059", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Ser1292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1351", "end_pos": "1351", "site_lbl": "Ser1351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1355", "end_pos": "1355", "site_lbl": "Ser1355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Ser1357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1546", "end_pos": "1546", "site_lbl": "Ser1546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "1645", "end_pos": "1645", "site_lbl": "Ser1645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Tyr353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Ser505", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Ser507", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Ser584", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Ser613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ser615", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Thr628", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ser630", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Ser634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Ser682", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Ser745", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Ser767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Ser786", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Thr871", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ser873", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTQ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTQ5" } ] } ] } ], "record_id": "Q9WTQ5-1" }, { "uniprot_canonical_ac": "Q9ESN4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, "chemical_mass": 26687.0, "gene_names": "C1ql3;1110065A22Rik;Adij;C1ql3;C1ql;C1qtnf13;CTRP13;Ctrp13;K100", "protein_name": "Complement C1q-like protein 3", "disease": [], "biological_process": [ { "name": "postsynaptic density assembly", "id": "GO:0097107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097107", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "trans-synaptic signaling, modulating synaptic transmission", "id": "GO:0099550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099550", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ESN4-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Cys28", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect heterooligomerization with C1QL4; when associated with A-32.", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" }, { "database": "PubMed", "id": "21378161", "url": "https://glygen.org/publication/PubMed/21378161" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect heterooligomerization with C1QL2; when associated with S-32.", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" }, { "database": "PubMed", "id": "21378161", "url": "https://glygen.org/publication/PubMed/21378161" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] } ] }, { "uniprot_canonical_ac": "Q9ESN4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Cys32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect heterooligomerization with C1QL4; when associated with A-28.", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" }, { "database": "PubMed", "id": "21378161", "url": "https://glygen.org/publication/PubMed/21378161" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect heterooligomerization with C1QL2; when associated with S-28.", "evidence": [ { "database": "UniProtKB", "id": "Q9ESN4", "url": "https://www.uniprot.org/uniprotkb/Q9ESN4" }, { "database": "PubMed", "id": "21378161", "url": "https://glygen.org/publication/PubMed/21378161" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] } ] } ], "record_id": "Q9ESN4-1" }, { "uniprot_canonical_ac": "Q80WT5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 931, "chemical_mass": 101131.0, "gene_names": "Aftph;Afth;Aftph", "protein_name": "Aftiphilin", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" }, { "name": "AP-1 adaptor complex", "id": "GO:0030121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030121", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" } ], "molecular_function": [ { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80WT5-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ] } ] }, { "uniprot_canonical_ac": "Q80WT5-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q80WT5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WT5" } ] } ] }, { "uniprot_canonical_ac": "Q80WT5-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Thr613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WT5", "url": "https://www.uniprot.org/uniprotkb/Q80WT5" } ] } ] } ], "record_id": "Q80WT5-1" }, { "uniprot_canonical_ac": "Q3UEG6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 513, "chemical_mass": 57115.0, "gene_names": "Agxt2;Agxt2", "protein_name": "Alanine--glyoxylate aminotransferase 2, mitochondrial", "disease": [ { "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:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0080832", "name": "mild cognitive impairment", "description": "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.", "url": "https://disease-ontology.org/term/DOID:0080832", "evidence": [ { "id": "0080832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080832" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "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 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "alanine-glyoxylate transaminase activity", "id": "GO:0008453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008453", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "(R)-3-amino-2-methylpropionate-pyruvate transaminase activity", "id": "GO:0047305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047305", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "beta-alanine:pyruvate transaminase activity", "id": "GO:0016223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016223", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "glyoxylate catabolic process", "id": "GO:0009436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009436", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "glycine biosynthetic process, by transamination of glyoxylate", "id": "GO:0019265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019265", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "L-alanine catabolic process, by transamination", "id": "GO:0019481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019481", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" }, { "name": "N(omega),N(omega)-dimethyl-L-arginine catabolic process", "id": "GO:2001299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001299", "evidence": [ { "database": "UniProtKB", "id": "Q3UEG6", "url": "https://www.uniprot.org/uniprotkb/Q3UEG6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UEG6-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G17208MA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AHSNHTDIISFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "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": "Q3UEG6-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Asn475", "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": "GGNFSQTFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 475, "start_aa": "Asn", "end_pos": 475, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn475", "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" } ] } ] } ], "record_id": "Q3UEG6-1" }, { "uniprot_canonical_ac": "Q91VA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 573, "chemical_mass": 64760.0, "gene_names": "Acsm1;Acas3;Acsm1;Bucs1;Lae;Macs1;Macs", "protein_name": "Acyl-coenzyme A synthetase ACSM1, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "decanoate-CoA ligase activity", "id": "GO:0102391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102391", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "fatty-acyl-CoA synthase activity", "id": "GO:0004321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004321", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "fatty acid ligase activity", "id": "GO:0015645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015645", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "benzoate-CoA ligase activity", "id": "GO:0018858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018858", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q91VA0", "url": "https://www.uniprot.org/uniprotkb/Q91VA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91VA0-1" }, { "uniprot_canonical_ac": "Q9Z2N8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 429, "chemical_mass": 47448.0, "gene_names": "Actl6a;2810432C06Rik;ARP4;Actl6a;Actl6;Baf53a", "protein_name": "Actin-like protein 6A", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of chromosome organization", "id": "GO:0033044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033044", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "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": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "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": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "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": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "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": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of double-strand break repair", "id": "GO:2000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000779", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance in response to DNA damage", "id": "GO:1904507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z2N8-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2N8-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2N8" } ] } ] } ], "record_id": "Q9Z2N8-1" }, { "uniprot_canonical_ac": "Q8K4F5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 33561.0, "gene_names": "Abhd11;1110054D16Rik;A630008N09Rik;Abhd11;Wbscr21", "protein_name": "sn-1-specific diacylglycerol lipase ABHD11", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" }, { "name": "oxoglutarate dehydrogenase complex", "id": "GO:0045252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045252", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8K4F5", "url": "https://www.uniprot.org/uniprotkb/Q8K4F5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K4F5-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Thr164", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 164, "start_aa": "Thr", "end_pos": 164, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr164", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8K4F5-1" }, { "uniprot_canonical_ac": "P07356-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 38676.0, "gene_names": "Anxa2;Anx2;Anxa2;Cal1h;PAP-IV;p36", "protein_name": "Annexin A2", "disease": [ { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:1350", "name": "paranasal sinus benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:1350", "evidence": [ { "id": "1350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ], "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:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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: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: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: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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of plasminogen activation", "id": "GO:0010756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010756", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "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": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "membrane raft assembly", "id": "GO:0001765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001765", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "body fluid secretion", "id": "GO:0007589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007589", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle receptor catabolic process", "id": "GO:0032804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032804", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of vacuole organization", "id": "GO:0044090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044090", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:1905602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905602", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "epithelial cell apoptotic process", "id": "GO:1904019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904019", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "positive regulation of plasma membrane repair", "id": "GO:1905686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905686", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "phospholipase A2 inhibitor activity", "id": "GO:0019834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019834", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "bone sialoprotein binding", "id": "GO:0044730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044730", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "phospholipase inhibitor activity", "id": "GO:0004859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004859", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "myelin sheath adaxonal region", "id": "GO:0035749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035749", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "Schmidt-Lanterman incisure", "id": "GO:0043220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043220", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "macropinosome", "id": "GO:0044354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044354", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "PCSK9-AnxA2 complex", "id": "GO:1990667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990667", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" }, { "name": "AnxA2-p11 complex", "id": "GO:1990665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990665", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P07356-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ] } ] }, { "uniprot_canonical_ac": "P07356-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Tyr199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P07356", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07356" } ] } ] }, { "uniprot_canonical_ac": "P07356-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Tyr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" } ] } ] }, { "uniprot_canonical_ac": "P07356-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07356", "url": "https://www.uniprot.org/uniprotkb/P07356" }, { "database": "iPTMnet", "id": "P07356", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07356" }, { "database": "PubMed", "id": "35257889", "url": "https://glygen.org/publication/PubMed/35257889" } ] } ] } ], "record_id": "P07356-1" }, { "uniprot_canonical_ac": "P51174-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 430, "chemical_mass": 47908.0, "gene_names": "Acadl;Acadl;LCAD", "protein_name": "Long-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080155", "name": "very long chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.", "url": "https://disease-ontology.org/term/DOID:0080155", "evidence": [ { "id": "0080155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080155" } ], "weight": 0.0 } ], "biological_process": [ { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "negative regulation of fatty acid biosynthetic process", "id": "GO:0045717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045717", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "negative regulation of fatty acid oxidation", "id": "GO:0046322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046322", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "long-chain fatty acid catabolic process", "id": "GO:0042758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042758", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "carnitine metabolic process, CoA-linked", "id": "GO:0019254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019254", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "carnitine catabolic process", "id": "GO:0042413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042413", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "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": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" } ], "molecular_function": [ { "name": "long-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0004466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004466", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "medium-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0070991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070991", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51174-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51174", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51174" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51174", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51174" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51174", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51174" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Lys318", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduces activity by 37%; reduces activity by 80% when associated with R-322.", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "24121500", "url": "https://glygen.org/publication/PubMed/24121500" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Lys322", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduces activity by 23%; reduces activity by 80% when associated with R-318.", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "24121500", "url": "https://glygen.org/publication/PubMed/24121500" } ] } ] }, { "uniprot_canonical_ac": "P51174-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Lys42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduces activity by 90% when associated with R-318 and R-322.", "evidence": [ { "database": "UniProtKB", "id": "P51174", "url": "https://www.uniprot.org/uniprotkb/P51174" }, { "database": "PubMed", "id": "24121500", "url": "https://glygen.org/publication/PubMed/24121500" } ] } ] } ], "record_id": "P51174-1" }, { "uniprot_canonical_ac": "P48410-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 736, "chemical_mass": 81859.0, "gene_names": "Abcd1;ALDP;Abcd1;Aldgh;Ald", "protein_name": "ATP-binding cassette sub-family D member 1", "disease": [ { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "regulation of mitochondrial depolarization", "id": "GO:0051900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051900", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "very long-chain fatty acid catabolic process", "id": "GO:0042760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042760", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "long-chain fatty acid import into peroxisome", "id": "GO:0015910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015910", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "long-chain fatty acid catabolic process", "id": "GO:0042758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042758", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "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": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "fatty acid elongation", "id": "GO:0030497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030497", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "regulation of fatty acid beta-oxidation", "id": "GO:0031998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031998", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "sterol homeostasis", "id": "GO:0055092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055092", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "myelin maintenance", "id": "GO:0043217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043217", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "positive regulation of unsaturated fatty acid biosynthetic process", "id": "GO:2001280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001280", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "very long-chain fatty-acyl-CoA catabolic process", "id": "GO:0036113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036113", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" } ], "molecular_function": [ { "name": "long-chain fatty acid transmembrane transporter activity", "id": "GO:0005324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005324", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "fatty acyl-CoA hydrolase activity", "id": "GO:0047617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047617", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "very long-chain fatty acyl-CoA hydrolase activity", "id": "GO:0052817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052817", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ABC-type fatty-acyl-CoA transporter activity", "id": "GO:0015607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015607", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P48410", "url": "https://www.uniprot.org/uniprotkb/P48410" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48410-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 214, "start_aa": "Asn", "end_pos": 214, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn214", "evidence": [ { "id": "P48410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P48410#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P48410-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Asp629", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "X", "chr_pos": "72780728", "evidence": [ { "id": "rs3411038270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411038270" } ] } ] } ], "record_id": "P48410-1" }, { "uniprot_canonical_ac": "Q99PU5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 721, "chemical_mass": 80426.0, "gene_names": "Acsbg1;Acsbg1;BG1;Bgm;E230019G03Rik;GR-LACS;Kiaa0631;Lpd", "protein_name": "Long-chain-fatty-acid--CoA ligase ACSBG1", "disease": [ { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 } ], "biological_process": [ { "name": "very long-chain fatty acid metabolic process", "id": "GO:0000038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000038", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "long-chain fatty acid biosynthetic process", "id": "GO:0042759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042759", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "very long-chain fatty acid-CoA ligase activity", "id": "GO:0031957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031957", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99PU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99PU5" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Tyr655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q99PU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99PU5" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99PU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99PU5" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Gly281", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Abolishes enzyme activity; when associated with M-287.", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" }, { "database": "PubMed", "id": "11112418", "url": "https://glygen.org/publication/PubMed/11112418" } ] } ] }, { "uniprot_canonical_ac": "Q99PU5-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Lys287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Abolishes enzyme activity; when associated with A-281.", "evidence": [ { "database": "UniProtKB", "id": "Q99PU5", "url": "https://www.uniprot.org/uniprotkb/Q99PU5" }, { "database": "PubMed", "id": "11112418", "url": "https://glygen.org/publication/PubMed/11112418" } ] } ] } ], "record_id": "Q99PU5-1" }, { "uniprot_canonical_ac": "E9Q4Z2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2448, "chemical_mass": 275750.0, "gene_names": "Acacb;Acacb;Acc2;Accb", "protein_name": "Acetyl-CoA carboxylase 2", "disease": [ { "disease_id": "DOID:0060404", "name": "chromosome 17q12 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.", "url": "https://disease-ontology.org/term/DOID:0060404", "evidence": [ { "id": "0060404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060404" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "biotin binding", "id": "GO:0009374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009374", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "mitochondrial fatty acid beta-oxidation multienzyme complex", "id": "GO:0016507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016507", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of fatty acid oxidation", "id": "GO:0046322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046322", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "negative regulation of fatty acid beta-oxidation", "id": "GO:0031999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031999", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "positive regulation of heart growth", "id": "GO:0060421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060421", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "malonyl-CoA biosynthetic process", "id": "GO:2001295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001295", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "purine nucleotide metabolic process", "id": "GO:0006163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006163", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903242", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "intracellular glutamate homeostasis", "id": "GO:0090461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "lactic acid secretion", "id": "GO:0046722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046722", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "D-glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" }, { "name": "intracellular aspartate homeostasis", "id": "GO:0090459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090459", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "2027", "end_pos": "2027", "site_lbl": "Thr2027", "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": 2027, "start_aa": "Thr", "end_pos": 2027, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2027", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "E9Q4Z2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q4Z2" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "1330", "end_pos": "1330", "site_lbl": "Ser1330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "1332", "end_pos": "1332", "site_lbl": "Ser1332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Ser1350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "1395", "end_pos": "1395", "site_lbl": "Ser1395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Thr197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" }, { "database": "PubMed", "id": "24913514", "url": "https://glygen.org/publication/PubMed/24913514" }, { "database": "PubMed", "id": "26156967", "url": "https://glygen.org/publication/PubMed/26156967" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No phosphorylation by AMPK, reduced fatty acid oxidation in skeletal muscle, increased lipid deposition in skeletal muscle, and development of insulin resistance.", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "24913514", "url": "https://glygen.org/publication/PubMed/24913514" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Thr743", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ser81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4Z2", "url": "https://www.uniprot.org/uniprotkb/E9Q4Z2" } ] } ] }, { "uniprot_canonical_ac": "E9Q4Z2-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Tyr673", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YFS->NFS).", "chr_id": "5", "chr_pos": "114336304", "evidence": [ { "id": "rs3388767892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767892" } ] } ] } ], "record_id": "E9Q4Z2-1" }, { "uniprot_canonical_ac": "P62259-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, "chemical_mass": 29174.0, "gene_names": "Ywhae;Ywhae", "protein_name": "14-3-3 protein epsilon", "disease": [ { "disease_id": "DOID:0060469", "name": "Miller-Dieker lissencephaly syndrome", "description": "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.", "url": "https://disease-ontology.org/term/DOID:0060469", "evidence": [ { "id": "0060469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ], "weight": 0.0 }, { "disease_id": "DOID:0060480", "name": "left ventricular noncompaction", "description": "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.", "url": "https://disease-ontology.org/term/DOID:0060480", "evidence": [ { "id": "0060480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060480" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor signaling pathway", "id": "GO:0034123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034123", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "positive regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "negative regulation of calcium ion export across plasma membrane", "id": "GO:1905913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905913", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "central region of growth cone", "id": "GO:0090724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090724", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "phosphoserine residue binding", "id": "GO:0050815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050815", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "calcium channel inhibitor activity", "id": "GO:0019855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019855", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62259-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Asn227", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49642SA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DNLTLWTSDMQGDGEEQNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 227, "start_aa": "Asn", "end_pos": 227, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn227", "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": "P62259-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Tyr131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ] } ] }, { "uniprot_canonical_ac": "P62259-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ] } ] }, { "uniprot_canonical_ac": "P62259-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62259" } ] } ] }, { "uniprot_canonical_ac": "P62259-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ] } ] }, { "uniprot_canonical_ac": "P62259-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62259", "url": "https://www.uniprot.org/uniprotkb/P62259" } ] } ] } ], "record_id": "P62259-1" }, { "uniprot_canonical_ac": "Q9D2L6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 698, "chemical_mass": 77331.0, "gene_names": "Adgrf4;4632435A09Rik;Adgrf4;Gpr115", "protein_name": "Adhesion G protein-coupled receptor F4", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D2L6", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Asn213", "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": "NASSDLLESVNSFAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "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" } ] }, { "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": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Asn268", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 268, "start_aa": "Asn", "end_pos": 268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn268", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Asn290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Asn344", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 344, "start_aa": "Asn", "end_pos": 344, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn344", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Asn375", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 375, "start_aa": "Asn", "end_pos": 375, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn375", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Asn466", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 466, "start_aa": "Asn", "end_pos": 466, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn466", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Asn559", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 559, "start_aa": "Asn", "end_pos": 559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn559", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asn61", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 61, "start_aa": "Asn", "end_pos": 61, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn61", "evidence": [ { "id": "Q9D2L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D2L6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D2L6-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAY).", "chr_id": "17", "chr_pos": "42978467", "evidence": [ { "id": "rs3389470593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470593" } ] } ] } ], "record_id": "Q9D2L6-1" }, { "uniprot_canonical_ac": "Q91V24-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2159, "chemical_mass": 236884.0, "gene_names": "Abca7;ABCX;Abc51;Abca7", "protein_name": "ATP-binding cassette sub-family A member 7", "disease": [ { "disease_id": "DOID:0111364", "name": "Alzheimer's disease 9", "description": "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0111364", "evidence": [ { "id": "0111364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111364" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of endocytosis", "id": "GO:0045806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045806", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "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": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "regulation of amyloid precursor protein catabolic process", "id": "GO:1902991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902991", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "negative regulation of amyloid precursor protein biosynthetic process", "id": "GO:0042985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042985", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "apolipoprotein A-I-mediated signaling pathway", "id": "GO:0038027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038027", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "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": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "positive regulation of engulfment of apoptotic cell", "id": "GO:1901076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901076", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "amyloid-beta formation", "id": "GO:0034205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034205", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "negative regulation of PERK-mediated unfolded protein response", "id": "GO:1903898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903898", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "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": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "plasma membrane raft organization", "id": "GO:0044857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044857", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "regulation of protein localization to cell surface", "id": "GO:2000008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000008", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phospholipid transporter activity", "id": "GO:0005548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005548", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor activity", "id": "GO:0034188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034188", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" }, { "name": "floppase activity", "id": "GO:0140328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140328", "evidence": [ { "database": "UniProtKB", "id": "Q91V24", "url": "https://www.uniprot.org/uniprotkb/Q91V24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91V24-1", "start_pos": "1090", "end_pos": "1090", "site_lbl": "Thr1090", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1090, "start_aa": "Thr", "end_pos": 1090, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1090", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91V24-1", "start_pos": "1395", "end_pos": "1395", "site_lbl": "Asn1395", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RLLPDCPAGAGGPPPPQAVAGLGEVVQNLTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1395, "start_aa": "Asn", "end_pos": 1395, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1395", "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": "Q91V24-1", "start_pos": "1400", "end_pos": "1400", "site_lbl": "Asn1400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G98208DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSDFLVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1400, "start_aa": "Asn", "end_pos": 1400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1400", "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": "Q91V24-1", "start_pos": "1471", "end_pos": "1471", "site_lbl": "Asn1471", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1471, "start_aa": "Asn", "end_pos": 1471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1471", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1471, "start_aa": "Asn", "end_pos": 1471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1471", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ] }, { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILNNLTQWALGLDAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1471, "start_aa": "Asn", "end_pos": 1471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1471", "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": "Q91V24-1", "start_pos": "1532", "end_pos": "1532", "site_lbl": "Asn1532", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1532, "start_aa": "Asn", "end_pos": 1532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1532", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1532, "start_aa": "Asn", "end_pos": 1532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1532", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1532, "start_aa": "Asn", "end_pos": 1532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1532", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HAHSITTLNHPLNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1532, "start_aa": "Asn", "end_pos": 1532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1532", "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": "Q91V24-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Asn299", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILFAPDTNFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 299, "start_aa": "Asn", "end_pos": 299, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn299", "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": "Q91V24-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Asn309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLMAQVNQTFEELALLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 309, "start_aa": "Asn", "end_pos": 309, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn309", "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" } ] }, { "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": 309, "start_aa": "Asn", "end_pos": 309, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn309", "evidence": [ { "id": "Q91V24", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91V24#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91V24-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Leu1396", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NPT).", "chr_id": "10", "chr_pos": "79844206", "evidence": [ { "id": "rs3389112514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389112514" } ] } ] } ], "record_id": "Q91V24-1" }, { "uniprot_canonical_ac": "Q9DC29-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 842, "chemical_mass": 93770.0, "gene_names": "Abcb6;1200005B17Rik;Abcb6", "protein_name": "ATP-binding cassette sub-family B member 6", "disease": [ { "disease_id": "DOID:0060304", "name": "dyschromatosis universalis hereditaria", "description": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.", "url": "https://disease-ontology.org/term/DOID:0060304", "evidence": [ { "id": "0060304", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060304" } ], "weight": 0.0 } ], "biological_process": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "porphyrin-containing compound biosynthetic process", "id": "GO:0006779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006779", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "heme transport", "id": "GO:0015886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015886", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "heme metabolic process", "id": "GO:0042168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042168", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "porphyrin-containing compound metabolic process", "id": "GO:0006778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006778", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "tetrapyrrole metabolic process", "id": "GO:0033013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033013", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "heme transmembrane transport", "id": "GO:0035351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035351", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "cellular detoxification of cadmium ion", "id": "GO:0098849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098849", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "vacuolar membrane", "id": "GO:0005774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005774", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "endolysosome membrane", "id": "GO:0036020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036020", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "ABC-type heme transporter activity", "id": "GO:0015439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015439", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" }, { "name": "tetrapyrrole binding", "id": "GO:0046906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046906", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DC29-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Thr690", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 690, "start_aa": "Thr", "end_pos": 690, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr690", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DC29-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Results in retention of the protein in the Golgi apparatus.", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" }, { "database": "PubMed", "id": "23519333", "url": "https://glygen.org/publication/PubMed/23519333" } ] } ] }, { "uniprot_canonical_ac": "Q9DC29-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Leu356", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Results in retention of the protein in the Golgi apparatus.", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" }, { "database": "PubMed", "id": "23519333", "url": "https://glygen.org/publication/PubMed/23519333" } ] } ] }, { "uniprot_canonical_ac": "Q9DC29-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Gly579", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Results in retention of the protein in the Golgi apparatus.", "evidence": [ { "database": "UniProtKB", "id": "Q9DC29", "url": "https://www.uniprot.org/uniprotkb/Q9DC29" }, { "database": "PubMed", "id": "23519333", "url": "https://glygen.org/publication/PubMed/23519333" } ] } ] } ], "record_id": "Q9DC29-1" }, { "uniprot_canonical_ac": "Q9JHW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 512, "chemical_mass": 56157.0, "gene_names": "Aldh1a3;ALDH6;Aldh1a3;Aldh6;RALDH3;Raldh3;V1", "protein_name": "Retinaldehyde dehydrogenase 3", "disease": [ { "disease_id": "DOID:0060841", "name": "isolated microphthalmia 8", "description": "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0060841", "evidence": [ { "id": "0060841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060841" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nose development", "id": "GO:0043584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "optic cup morphogenesis involved in camera-type eye development", "id": "GO:0002072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002072", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "retinoic acid biosynthetic process", "id": "GO:0002138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002138", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "nucleus accumbens development", "id": "GO:0021768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021768", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "embryonic eye morphogenesis", "id": "GO:0048048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048048", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "olfactory pit development", "id": "GO:0060166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060166", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "Harderian gland development", "id": "GO:0070384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070384", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "positive regulation of retinoic acid receptor signaling pathway", "id": "GO:0048386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048386", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "3-chloroallyl aldehyde dehydrogenase activity", "id": "GO:0004028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004028", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase [NAD(P)+] activity", "id": "GO:0004030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004030", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "thyroid hormone binding", "id": "GO:0070324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070324", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "id": "GO:0016620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016620", "evidence": [ { "database": "UniProtKB", "id": "Q9JHW9", "url": "https://www.uniprot.org/uniprotkb/Q9JHW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JHW9-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Thr239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 239, "start_aa": "Thr", "end_pos": 239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr239", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9JHW9-1" }, { "uniprot_canonical_ac": "Q9CZS1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 519, "chemical_mass": 57553.0, "gene_names": "Aldh1b1;2700007F14Rik;Aldh1b1", "protein_name": "Aldehyde dehydrogenase family 1 member B1, mitochondrial", "disease": [ { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" } ], "biological_process": [ { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q9CZS1", "url": "https://www.uniprot.org/uniprotkb/Q9CZS1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZS1-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9CZS1-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asp307", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQC->NQC).", "chr_id": "4", "chr_pos": "45803382", "evidence": [ { "id": "rs238801522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238801522" } ] } ] }, { "uniprot_canonical_ac": "Q9CZS1-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Arg494", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGT).", "chr_id": "4", "chr_pos": "45803944", "evidence": [ { "id": "rs3393917884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393917884" } ] } ] } ], "record_id": "Q9CZS1-1" }, { "uniprot_canonical_ac": "O70456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 27706.0, "gene_names": "Sfn;14-3-3;Er;Mkrn3;Mme1;Sfn;Ywhas", "protein_name": "14-3-3 protein sigma", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:2101", "name": "vulva squamous cell carcinoma", "description": "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.", "url": "https://disease-ontology.org/term/DOID:2101", "evidence": [ { "id": "2101", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2101" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "keratinization", "id": "GO:0031424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031424", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "positive regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "regulation of epidermal cell division", "id": "GO:0010482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010482", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "positive regulation of epidermal cell differentiation", "id": "GO:0045606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045606", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "cytolysis in another organism", "id": "GO:0051715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051715", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "non-canonical inflammasome complex assembly", "id": "GO:0160075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160075", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "phosphoserine residue binding", "id": "GO:0050815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050815", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70456-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ] } ] }, { "uniprot_canonical_ac": "O70456-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ] } ] }, { "uniprot_canonical_ac": "O70456-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70456", "url": "https://www.uniprot.org/uniprotkb/O70456" } ] } ] } ], "record_id": "O70456-1" }, { "uniprot_canonical_ac": "P61982-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 28303.0, "gene_names": "Ywhag;14-3-3gamma;D7Bwg1348e;Ywhag", "protein_name": "14-3-3 protein gamma", "disease": [ { "disease_id": "DOID:0080282", "name": "developmental and epileptic encephalopathy 56", "description": "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.", "url": "https://disease-ontology.org/term/DOID:0080282", "evidence": [ { "id": "0080282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080282" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated immune response to tumor cell", "id": "GO:0002842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002842", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "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": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "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": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "phosphorylation-dependent protein binding", "id": "GO:0140031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140031", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61982-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Asn29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YDDMAAAMKNVTELNEPLSNEERNLLSVAYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 29, "start_aa": "Asn", "end_pos": 29, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn29", "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": "P61982-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Tyr133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Thr145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Thr234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61982", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61982" }, { "database": "PubMed", "id": "25086053", "url": "https://glygen.org/publication/PubMed/25086053" } ] } ] }, { "uniprot_canonical_ac": "P61982-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61982", "url": "https://www.uniprot.org/uniprotkb/P61982" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P61982", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61982" } ] } ] } ], "record_id": "P61982-1" }, { "uniprot_canonical_ac": "P68254-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 27778.0, "gene_names": "Ywhaq;2700028P07Rik;Ywhaq", "protein_name": "14-3-3 protein theta", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "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": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "negative regulation of monoatomic ion transmembrane transport", "id": "GO:0034766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034766", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68254-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Asn108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YLIANATNPESK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 108, "start_aa": "Asn", "end_pos": 108, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn108", "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": "P68254-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" } ] } ] }, { "uniprot_canonical_ac": "P68254-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68254", "url": "https://www.uniprot.org/uniprotkb/P68254" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P68254", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68254" } ] } ] }, { "uniprot_canonical_ac": "P68254-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ile93", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ICT->NCT).", "chr_id": "12", "chr_pos": "21466815", "evidence": [ { "id": "rs3412962310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412962310" } ] } ] } ], "record_id": "P68254-1" }, { "uniprot_canonical_ac": "P68510-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 246, "chemical_mass": 28212.0, "gene_names": "Ywhah;Ywhah", "protein_name": "14-3-3 protein eta", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "cerebellar granule cell to Purkinje cell synapse", "id": "GO:0150048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150048", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "glucocorticoid catabolic process", "id": "GO:0006713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006713", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:0042921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042921", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "membrane depolarization during action potential", "id": "GO:0086010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086010", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "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": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "negative regulation of dendrite morphogenesis", "id": "GO:0050774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050774", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68510-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Thr70", "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": 70, "start_aa": "Thr", "end_pos": 70, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr70", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P68510", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P68510" }, { "id": "36610251", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36610251" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" } ] } ] }, { "uniprot_canonical_ac": "P68510-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" } ] } ] }, { "uniprot_canonical_ac": "P68510-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68510", "url": "https://www.uniprot.org/uniprotkb/P68510" }, { "database": "PubMed", "id": "9705322", "url": "https://glygen.org/publication/PubMed/9705322" }, { "database": "iPTMnet", "id": "P68510", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68510" } ] } ] } ], "record_id": "P68510-1" }, { "uniprot_canonical_ac": "P70445-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 120, "chemical_mass": 12898.0, "gene_names": "Eif4ebp2;2810011I19Rik;4E-BP2;Eif4ebp2;PHAS-II", "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 2", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "neuronal ribonucleoprotein granule", "id": "GO:0071598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071598", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" } ], "biological_process": [ { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" } ], "molecular_function": [ { "name": "eukaryotic initiation factor 4E binding", "id": "GO:0008190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008190", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" }, { "name": "translation repressor activity", "id": "GO:0030371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030371", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70445-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Thr37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "iPTMnet", "id": "P70445", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70445" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impaired hyperphosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ] }, { "uniprot_canonical_ac": "P70445-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Thr46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "iPTMnet", "id": "P70445", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70445" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impaired hyperphosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ] }, { "uniprot_canonical_ac": "P70445-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "iPTMnet", "id": "P70445", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70445" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ] }, { "uniprot_canonical_ac": "P70445-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Thr70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "iPTMnet", "id": "P70445", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70445" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not greatlay affect hyperphosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" }, { "database": "PubMed", "id": "20347422", "url": "https://glygen.org/publication/PubMed/20347422" } ] } ] }, { "uniprot_canonical_ac": "P70445-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70445", "url": "https://www.uniprot.org/uniprotkb/P70445" } ] } ] } ], "record_id": "P70445-1" }, { "uniprot_canonical_ac": "Q07417-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 412, "chemical_mass": 44890.0, "gene_names": "Acads;Acads;Bcd-1;Bcd1;Hdlq8;SCAD", "protein_name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080154", "name": "short chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.", "url": "https://disease-ontology.org/term/DOID:0080154", "evidence": [ { "id": "0080154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080154" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "short-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0016937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016937", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" }, { "name": "butyrate catabolic process", "id": "GO:0046359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046359", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07417-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Thr219", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 219, "start_aa": "Thr", "end_pos": 219, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr219", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q07417-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07417", "url": "https://www.uniprot.org/uniprotkb/Q07417" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q07417", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07417" } ] } ] } ], "record_id": "Q07417-1" }, { "uniprot_canonical_ac": "Q14DH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 682, "chemical_mass": 74518.0, "gene_names": "Acss3;8430416H19Rik;Acss3;Gm874", "protein_name": "Acyl-CoA synthetase short-chain family member 3, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" }, { "name": "acetate-CoA ligase activity", "id": "GO:0003987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003987", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" }, { "name": "propionate-CoA ligase activity", "id": "GO:0050218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050218", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q14DH7", "url": "https://www.uniprot.org/uniprotkb/Q14DH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q14DH7-1" }, { "uniprot_canonical_ac": "Q5EG47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 63929.0, "gene_names": "Prkaa1;AMPKalpha1;C130083N04Rik;Prkaa1", "protein_name": "5'-AMP-activated protein kinase catalytic subunit alpha-1", "disease": [ { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "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: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of hepatocyte apoptotic process", "id": "GO:1903944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903944", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated immune response to tumor cell", "id": "GO:0002842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002842", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of adipose tissue development", "id": "GO:1904179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "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": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to mitochondrion", "id": "GO:1903955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903955", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "phosphatidylcholine biosynthetic process", "id": "GO:0006656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006656", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "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": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "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": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cold acclimation", "id": "GO:0009631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009631", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of peptidyl-serine phosphorylation", "id": "GO:0033135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033135", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "CAMKK-AMPK signaling cascade", "id": "GO:0061762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061762", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "phosphatidylethanolamine biosynthetic process", "id": "GO:0006646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006646", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "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": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein localization to lipid droplet", "id": "GO:1990044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990044", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "regulation of stress granule assembly", "id": "GO:0062028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062028", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial transcription", "id": "GO:1903109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903109", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "lipid droplet disassembly", "id": "GO:1905691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905691", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "AMP-activated protein kinase activity", "id": "GO:0004679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004679", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity", "id": "GO:0047322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047322", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "histone H2BS36 kinase activity", "id": "GO:0140823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140823", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "nucleotide-activated protein kinase complex", "id": "GO:0031588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031588", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Thr183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" }, { "database": "PRO", "id": "Q5EG47", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q5EG47" }, { "database": "iPTMnet", "id": "Q5EG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5EG47" }, { "database": "PubMed", "id": "23842676", "url": "https://glygen.org/publication/PubMed/23842676" }, { "database": "PubMed", "id": "16054095", "url": "https://glygen.org/publication/PubMed/16054095" }, { "database": "PubMed", "id": "16308421", "url": "https://glygen.org/publication/PubMed/16308421" }, { "database": "PubMed", "id": "15980064", "url": "https://glygen.org/publication/PubMed/15980064" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Thr355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Thr368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Thr382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ser397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5EG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Thr488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Thr490", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5EG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q5EG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" } ] } ] }, { "uniprot_canonical_ac": "Q5EG47-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asp168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5EG47", "url": "https://www.uniprot.org/uniprotkb/Q5EG47" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" }, { "database": "PubMed", "id": "15878856", "url": "https://glygen.org/publication/PubMed/15878856" } ] } ] } ], "record_id": "Q5EG47-1" }, { "uniprot_canonical_ac": "Q60662-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 849, "chemical_mass": 93796.0, "gene_names": "Akap4;AKAP-4;AKAP82;Akap4;Akap82;Fsc1;PRKA4;mAKAP82;p82", "protein_name": "A-kinase anchor protein 4", "disease": [], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "sperm fibrous sheath", "id": "GO:0035686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035686", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60662-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ser130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Thr207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ser271", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Tyr301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Ser504", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Thr506", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Ser538", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Ser583", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Ser628", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Ser633", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" } ] } ] }, { "uniprot_canonical_ac": "Q60662-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Arg428", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Knockin mice display male subfertility due to decreased sperm motility.", "evidence": [ { "database": "UniProtKB", "id": "Q60662", "url": "https://www.uniprot.org/uniprotkb/Q60662" }, { "database": "PubMed", "id": "38050179", "url": "https://glygen.org/publication/PubMed/38050179" } ] } ] } ], "record_id": "Q60662-1" }, { "uniprot_canonical_ac": "Q60876-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 12325.0, "gene_names": "Eif4ebp1;4e-bp1;Eif4ebp1;PHAS-I", "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 1", "disease": [ { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "IRES-dependent translational initiation of linear mRNA", "id": "GO:0002192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002192", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "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": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "response to amino acid starvation", "id": "GO:1990928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990928", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" } ], "molecular_function": [ { "name": "eukaryotic initiation factor 4E binding", "id": "GO:0008190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008190", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "translation repressor activity", "id": "GO:0030371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030371", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60876-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Thr10", "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": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q60876", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "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": 12, "start_aa": "Ser", "end_pos": 12, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser12", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q60876", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "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": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "21840999", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21840999" }, { "id": "Q60876", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Thr35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9JLN9-1", "kinase_gene_name": "Mtor", "evidence": [ { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "20670887", "url": "https://glygen.org/publication/PubMed/20670887" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Thr36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "11777913", "url": "https://glygen.org/publication/PubMed/11777913" }, { "database": "PubMed", "id": "23077579", "url": "https://glygen.org/publication/PubMed/23077579" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9JLN9-1", "kinase_gene_name": "Mtor", "evidence": [ { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "20670887", "url": "https://glygen.org/publication/PubMed/20670887" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "11777913", "url": "https://glygen.org/publication/PubMed/11777913" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Tyr53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "11777913", "url": "https://glygen.org/publication/PubMed/11777913" }, { "database": "PubMed", "id": "23077579", "url": "https://glygen.org/publication/PubMed/23077579" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" }, { "database": "PubMed", "id": "11777913", "url": "https://glygen.org/publication/PubMed/11777913" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60876", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60876" } ] } ] }, { "uniprot_canonical_ac": "Q60876-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Phe113", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired interaction with RPTOR.", "evidence": [ { "database": "UniProtKB", "id": "Q60876", "url": "https://www.uniprot.org/uniprotkb/Q60876" }, { "database": "PubMed", "id": "24139800", "url": "https://glygen.org/publication/PubMed/24139800" } ] } ] } ], "record_id": "Q60876-1" }, { "uniprot_canonical_ac": "Q7M759-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 288, "chemical_mass": 32201.0, "gene_names": "Abhd17b;5730446C15Rik;Abhd17b;Cgi67;Fam108b1;Fam108b", "protein_name": "Alpha/beta hydrolase domain-containing protein 17B", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome membrane", "id": "GO:0098944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098944", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein localization to endosome", "id": "GO:1905668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905668", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "regulation of protein localization to synapse", "id": "GO:1902473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902473", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "regulation of dendritic spine maintenance", "id": "GO:1902950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902950", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "protein depalmitoylation", "id": "GO:0002084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002084", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" }, { "name": "negative regulation of protein localization to microtubule", "id": "GO:1902817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902817", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" } ], "molecular_function": [ { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7M759-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNLSFSELCCLFCCPPCPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "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": "Q7M759-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7M759", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7M759" } ] } ] }, { "uniprot_canonical_ac": "Q7M759-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" }, { "database": "PubMed", "id": "27307232", "url": "https://glygen.org/publication/PubMed/27307232" } ] } ] }, { "uniprot_canonical_ac": "Q7M759-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Asp235", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of catalytic activity. No effect on its localization. Trapping-mutant that stabilizes interaction with LG4/PSD95.", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" }, { "database": "PubMed", "id": "27307232", "url": "https://glygen.org/publication/PubMed/27307232" } ] } ] }, { "uniprot_canonical_ac": "Q7M759-1", "start_pos": "264", "end_pos": "264", "site_lbl": "His264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7M759", "url": "https://www.uniprot.org/uniprotkb/Q7M759" }, { "database": "PubMed", "id": "27307232", "url": "https://glygen.org/publication/PubMed/27307232" } ] } ] } ], "record_id": "Q7M759-1" }, { "uniprot_canonical_ac": "Q8BRK8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 552, "chemical_mass": 62022.0, "gene_names": "Prkaa2;2310008I11Rik;A830082D05;AMPKalpha2;Prkaa2", "protein_name": "5'-AMP-activated protein kinase catalytic subunit alpha-2", "disease": [ { "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: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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of hepatocyte apoptotic process", "id": "GO:1903944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903944", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "phosphatidylcholine biosynthetic process", "id": "GO:0006656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006656", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "phosphatidylethanolamine biosynthetic process", "id": "GO:0006646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006646", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein localization to lipid droplet", "id": "GO:1990044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990044", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "regulation of stress granule assembly", "id": "GO:0062028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062028", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "lipid droplet disassembly", "id": "GO:1905691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905691", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "AMP-activated protein kinase activity", "id": "GO:0004679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004679", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity", "id": "GO:0047322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047322", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "histone H2BS36 kinase activity", "id": "GO:0140823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140823", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "nucleotide-activated protein kinase complex", "id": "GO:0031588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031588", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "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": 54, "start_aa": "Ser", "end_pos": 54, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser54", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8BRK8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BRK8" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34167027", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34167027" }, { "id": "Q8BRK8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BRK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Thr172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" }, { "database": "PRO", "id": "Q8BRK8", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8BRK8" }, { "database": "iPTMnet", "id": "Q8BRK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BRK8" }, { "database": "PubMed", "id": "23842676", "url": "https://glygen.org/publication/PubMed/23842676" }, { "database": "PubMed", "id": "18276828", "url": "https://glygen.org/publication/PubMed/18276828" }, { "database": "PubMed", "id": "19131647", "url": "https://glygen.org/publication/PubMed/19131647" }, { "database": "PubMed", "id": "20299472", "url": "https://glygen.org/publication/PubMed/20299472" }, { "database": "PubMed", "id": "20497424", "url": "https://glygen.org/publication/PubMed/20497424" }, { "database": "PubMed", "id": "21079619", "url": "https://glygen.org/publication/PubMed/21079619" }, { "database": "PubMed", "id": "21980456", "url": "https://glygen.org/publication/PubMed/21980456" }, { "database": "PubMed", "id": "22357971", "url": "https://glygen.org/publication/PubMed/22357971" }, { "database": "PubMed", "id": "22412912", "url": "https://glygen.org/publication/PubMed/22412912" }, { "database": "PubMed", "id": "26986624", "url": "https://glygen.org/publication/PubMed/26986624" }, { "database": "PubMed", "id": "27416746", "url": "https://glygen.org/publication/PubMed/27416746" }, { "database": "PubMed", "id": "27737949", "url": "https://glygen.org/publication/PubMed/27737949" }, { "database": "PubMed", "id": "16308421", "url": "https://glygen.org/publication/PubMed/16308421" }, { "database": "PubMed", "id": "23332761", "url": "https://glygen.org/publication/PubMed/23332761" }, { "database": "PubMed", "id": "30201684", "url": "https://glygen.org/publication/PubMed/30201684" }, { "database": "PubMed", "id": "15980064", "url": "https://glygen.org/publication/PubMed/15980064" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Thr258", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" }, { "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": "Q8BRK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BRK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asp157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" }, { "database": "PubMed", "id": "20647423", "url": "https://glygen.org/publication/PubMed/20647423" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK8-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK8", "url": "https://www.uniprot.org/uniprotkb/Q8BRK8" }, { "database": "PubMed", "id": "21454484", "url": "https://glygen.org/publication/PubMed/21454484" } ] } ] } ], "record_id": "Q8BRK8-1" }, { "uniprot_canonical_ac": "Q8K370-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1069, "chemical_mass": 118979.0, "gene_names": "Acad10;2410021P16Rik;Acad10", "protein_name": "Acyl-CoA dehydrogenase family member 10", "disease": [], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q8K370", "url": "https://www.uniprot.org/uniprotkb/Q8K370" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K370-1" }, { "uniprot_canonical_ac": "Q8VCW8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCW8", "url": "https://www.uniprot.org/uniprotkb/Q8VCW8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 615, "chemical_mass": 67951.0, "gene_names": "Acsf2;Acsf2", "protein_name": "Medium-chain acyl-CoA ligase ACSF2, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VCW8", "url": "https://www.uniprot.org/uniprotkb/Q8VCW8" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q8VCW8", "url": "https://www.uniprot.org/uniprotkb/Q8VCW8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VCW8", "url": "https://www.uniprot.org/uniprotkb/Q8VCW8" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q8VCW8", "url": "https://www.uniprot.org/uniprotkb/Q8VCW8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCW8-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "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": 385, "start_aa": "Ser", "end_pos": 385, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser385", "evidence": [ { "id": "39666251", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39666251" }, { "id": "Q8VCW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCW8" } ] } ] } ], "record_id": "Q8VCW8-1" }, { "uniprot_canonical_ac": "Q91ZE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 689, "chemical_mass": 77045.0, "gene_names": "Adgre4;Adgre4;D17Ertd479e;Egf-tm7;Emr4;Fire;Gpr127", "protein_name": "Adhesion G protein-coupled receptor E4", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE5", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Asn203", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 203, "start_aa": "Asn", "end_pos": 203, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn203", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Asn238", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 238, "start_aa": "Asn", "end_pos": 238, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn238", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Asn315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 315, "start_aa": "Asn", "end_pos": 315, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn315", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Asn33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 33, "start_aa": "Asn", "end_pos": 33, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn33", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Asn401", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 401, "start_aa": "Asn", "end_pos": 401, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn401", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Asn49", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 49, "start_aa": "Asn", "end_pos": 49, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn49", "evidence": [ { "id": "Q91ZE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZE5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE5-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAN).", "chr_id": "17", "chr_pos": "56085839", "evidence": [ { "id": "rs265180665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265180665" } ] } ] } ], "record_id": "Q91ZE5-1" }, { "uniprot_canonical_ac": "Q99J27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 550, "chemical_mass": 61075.0, "gene_names": "Slc33a1;Acatn;D630022N01Rik;Slc33a1", "protein_name": "Acetyl-coenzyme A transporter 1", "disease": [ { "disease_id": "DOID:0110794", "name": "hereditary spastic paraplegia 42", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.", "url": "https://disease-ontology.org/term/DOID:0110794", "evidence": [ { "id": "0110794", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110794" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" } ], "pmid": "" }, { "name": "acetyl-CoA transmembrane transporter activity", "id": "GO:0008521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008521", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" } ], "pmid": "" } ], "biological_process": [ { "name": "acetyl-CoA transmembrane transport", "id": "GO:0035348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035348", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q99J27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99J27#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "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": 10, "start_aa": "Ser", "end_pos": 10, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser10", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q99J27", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99J27" }, { "id": "Q99J27", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99J27" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "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": 2, "start_aa": "Ser", "end_pos": 2, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q99J27", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99J27" }, { "id": "Q99J27", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99J27" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "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": "Q99J27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99J27" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Gln109", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63871287", "evidence": [ { "id": "rs3388623202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388623202" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63871565", "evidence": [ { "id": "rs3388632738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388632738" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Thr192", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63871038", "evidence": [ { "id": "rs3388636471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388636471" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Val210", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63870984", "evidence": [ { "id": "rs3388634668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388634668" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Phe226", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63870936", "evidence": [ { "id": "rs3388630362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388630362" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Val230", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63870924", "evidence": [ { "id": "rs3388623186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388623186" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ala238", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63870899", "evidence": [ { "id": "rs3388622180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388622180" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Phe260", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63861422", "evidence": [ { "id": "rs3412959942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412959942" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Gly34", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63871511", "evidence": [ { "id": "rs3388630725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388630725" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Val351", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63855593", "evidence": [ { "id": "rs3388622126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388622126" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Trp397", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63855069_63855070i", "evidence": [ { "id": "rs3393131896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393131896" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ile517", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63850774", "evidence": [ { "id": "rs254510735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254510735" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Lys547", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63850684", "evidence": [ { "id": "rs3388615090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615090" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Leu99", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "3", "chr_pos": "63871317", "evidence": [ { "id": "rs3388622109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388622109" } ] } ] }, { "uniprot_canonical_ac": "Q99J27-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Mice homozygous for the mutation display early developmental arrest. Heterozygous animals display a deregulated form of autophagy.", "evidence": [ { "database": "UniProtKB", "id": "Q99J27", "url": "https://www.uniprot.org/uniprotkb/Q99J27" }, { "database": "PubMed", "id": "24828632", "url": "https://glygen.org/publication/PubMed/24828632" } ] } ] } ], "record_id": "Q99J27-1" }, { "uniprot_canonical_ac": "Q99L13-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 335, "chemical_mass": 35440.0, "gene_names": "Hibadh;6430402H10Rik;Hibadh", "protein_name": "3-hydroxyisobutyrate dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "pmid": "" } ], "molecular_function": [ { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "pmid": "" }, { "name": "3-hydroxyisobutyrate dehydrogenase activity", "id": "GO:0008442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008442", "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "pmid": "" } ], "biological_process": [ { "name": "L-valine catabolic process", "id": "GO:0006574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006574", "evidence": [ { "database": "UniProtKB", "id": "Q99L13", "url": "https://www.uniprot.org/uniprotkb/Q99L13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99L13-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Asn244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILNMSSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 244, "start_aa": "Asn", "end_pos": 244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn244", "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" } ] } ] } ], "record_id": "Q99L13-1" }, { "uniprot_canonical_ac": "Q9CQV8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 246, "chemical_mass": 28086.0, "gene_names": "Ywhab;1300003C17Rik;14-3-3b;Ywhab", "protein_name": "14-3-3 protein beta/alpha", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "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": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "negative regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045744", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "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": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "negative regulation of cell growth involved in contact inhibition", "id": "GO:0060243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060243", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "phosphoserine residue binding", "id": "GO:0050815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050815", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Thr2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV8", "url": "https://www.uniprot.org/uniprotkb/Q9CQV8" }, { "database": "PubMed", "id": "9705322", "url": "https://glygen.org/publication/PubMed/9705322" }, { "database": "iPTMnet", "id": "Q9CQV8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQV8" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Gln152", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163857181", "evidence": [ { "id": "rs3388611484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611484" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Met162", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163857211", "evidence": [ { "id": "rs3388595289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595289" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Gln163", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163857215", "evidence": [ { "id": "rs3388601975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388601975" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Thr165", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163857219", "evidence": [ { "id": "rs3388609191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388609191" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Leu172", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163857241", "evidence": [ { "id": "rs3388605816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605816" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Asp215", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163858077", "evidence": [ { "id": "rs3388607363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607363" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Tyr21", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853586", "evidence": [ { "id": "rs3388612947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612947" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Thr231", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163858595", "evidence": [ { "id": "rs3392541212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392541212" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ala27", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853603", "evidence": [ { "id": "rs3388600783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600783" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Glu68", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853727", "evidence": [ { "id": "rs3388611360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611360" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Lys76", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853751", "evidence": [ { "id": "rs3388605442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605442" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ala90", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853792", "evidence": [ { "id": "rs3388607357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607357" } ] } ] }, { "uniprot_canonical_ac": "Q9CQV8-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Cys96", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "2", "chr_pos": "163853812", "evidence": [ { "id": "rs3388612942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612942" } ] } ] } ], "record_id": "Q9CQV8-1" }, { "uniprot_canonical_ac": "Q9DCT1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCT1", "url": "https://www.uniprot.org/uniprotkb/Q9DCT1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 34461.0, "gene_names": "Akr1e2;1810061I10Rik;Akr1cl2;Akr1e1;Akr1e2", "protein_name": "1,5-anhydro-D-fructose reductase", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT1", "url": "https://www.uniprot.org/uniprotkb/Q9DCT1" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT1", "url": "https://www.uniprot.org/uniprotkb/Q9DCT1" } ], "pmid": "" }, { "name": "1,5-anhydro-D-fructose reductase activity", "id": "GO:0050571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050571", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT1", "url": "https://www.uniprot.org/uniprotkb/Q9DCT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCT1-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Asn195", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSVTAYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "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" } ] } ] } ], "record_id": "Q9DCT1-1" }, { "uniprot_canonical_ac": "Q9QY30-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1321, "chemical_mass": 146749.0, "gene_names": "Abcb11;ABC16;Abcb11;Bsep;Lith1;PFIC2;PGY4;SPGP;Spgp", "protein_name": "Bile salt export pump", "disease": [ { "disease_id": "DOID:0070222", "name": "progressive familial intrahepatic cholestasis 2", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0070222", "evidence": [ { "id": "0070222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070222" } ], "weight": 0.0 }, { "disease_id": "DOID:0070232", "name": "benign recurrent intrahepatic cholestasis 2", "description": "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0070232", "evidence": [ { "id": "0070232", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070232" } ], "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: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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "intercellular canaliculus", "id": "GO:0046581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046581", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "intracellular canaliculus", "id": "GO:0046691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046691", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "canalicular bile acid transmembrane transporter activity", "id": "GO:0015126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015126", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "ABC-type bile acid transporter activity", "id": "GO:0015432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015432", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "bile acid transmembrane transporter activity", "id": "GO:0015125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015125", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "carbohydrate transmembrane transporter activity", "id": "GO:0015144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015144", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "regulation of fatty acid beta-oxidation", "id": "GO:0031998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031998", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "xenobiotic export from cell", "id": "GO:0046618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046618", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" }, { "name": "positive regulation of bile acid secretion", "id": "GO:0120189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120189", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Asn109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "Q9QY30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY30#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Asn116", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "Q9QY30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY30#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "Q9QY30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY30#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asn125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 125, "start_aa": "Asn", "end_pos": 125, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn125", "evidence": [ { "id": "Q9QY30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY30#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ser1321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Thr586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ser587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9QY30", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY30" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ser703", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ] } ] }, { "uniprot_canonical_ac": "Q9QY30-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY30", "url": "https://www.uniprot.org/uniprotkb/Q9QY30" } ] } ] } ], "record_id": "Q9QY30-1" }, { "uniprot_canonical_ac": "Q9R078-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 270, "chemical_mass": 30308.0, "gene_names": "Prkab1;1300015D22Rik;E430008F22;Prkab1", "protein_name": "5'-AMP-activated protein kinase subunit beta-1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "nucleotide-activated protein kinase complex", "id": "GO:0031588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031588", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "nail development", "id": "GO:0035878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035878", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "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": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" }, { "name": "AMP-activated protein kinase activity", "id": "GO:0004679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004679", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9R078-1", "kinase_gene_name": "Prkab1", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" }, { "database": "iPTMnet", "id": "Q9R078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R078" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" }, { "database": "iPTMnet", "id": "Q9R078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R078" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Thr148", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Thr19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" } ] } ] }, { "uniprot_canonical_ac": "Q9R078-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R078", "url": "https://www.uniprot.org/uniprotkb/Q9R078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R078" } ] } ] } ], "record_id": "Q9R078-1" }, { "uniprot_canonical_ac": "Q9R1C8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 46998.0, "gene_names": "Htr6;5-HT6;Htr6", "protein_name": "5-hydroxytryptamine receptor 6", "disease": [ { "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" } ], "biological_process": [ { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "negative regulation of glutamate secretion", "id": "GO:0014050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014050", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "positive regulation of dopamine secretion", "id": "GO:0033603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033603", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "positive regulation of gamma-aminobutyric acid secretion", "id": "GO:0014054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014054", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "negative regulation of gamma-aminobutyric acid secretion", "id": "GO:0014053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014053", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "adenylate cyclase-activating serotonin receptor signaling pathway", "id": "GO:0007192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007192", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "negative regulation of acetylcholine secretion, neurotransmission", "id": "GO:0014058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014058", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled serotonin receptor activity", "id": "GO:0004993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004993", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C8", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1C8-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Asn9", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 9, "start_aa": "Asn", "end_pos": 9, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn9", "evidence": [ { "id": "Q9R1C8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1C8#ptm_processing" } ] } ] } ], "record_id": "Q9R1C8-1" }, { "uniprot_canonical_ac": "P00687-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 511, "chemical_mass": 57644.0, "gene_names": "Amy1;Amy-1-a;Amy-1;Amy1a;Amy1;C030014B17Rik", "protein_name": "Alpha-amylase 1", "disease": [], "molecular_function": [ { "name": "amylase activity", "id": "GO:0016160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016160", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" }, { "name": "chloride ion binding", "id": "GO:0031404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031404", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" }, { "name": "alpha-amylase activity", "id": "GO:0004556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004556", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" }, { "name": "cation binding", "id": "GO:0043169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043169", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P00687", "url": "https://www.uniprot.org/uniprotkb/P00687" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P00687-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113363038", "evidence": [ { "id": "rs3388663519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663519" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Gly121", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113358670", "evidence": [ { "id": "rs3388640591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388640591" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Gly131", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113358640", "evidence": [ { "id": "rs3388648838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648838" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Tyr166", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113358534", "evidence": [ { "id": "rs3388664123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664123" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Gly208", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113357216", "evidence": [ { "id": "rs3388653341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653341" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ile225", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113357165", "evidence": [ { "id": "rs213211231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213211231" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ser238", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113357125", "evidence": [ { "id": "rs579830491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579830491" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Arg242", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113357113", "evidence": [ { "id": "rs235042246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235042246" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Leu277", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113356325", "evidence": [ { "id": "rs3388654824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654824" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Lys288", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113356292", "evidence": [ { "id": "rs3388656718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388656718" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Trp295", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355591", "evidence": [ { "id": "rs3388663597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663597" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Gly298", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355581", "evidence": [ { "id": "rs3388663586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663586" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Leu301", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355571", "evidence": [ { "id": "rs258784063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258784063" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Gly321", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355512_113355513insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388656204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388656204" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ala339", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355367", "evidence": [ { "id": "rs3388657188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657188" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Met343", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113355355", "evidence": [ { "id": "rs3388654800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654800" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "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": "3", "chr_pos": "113352079", "evidence": [ { "id": "rs3393544995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393544995" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Asn379", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113352056", "evidence": [ { "id": "rs256970263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256970263" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Gly418", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113351835", "evidence": [ { "id": "rs255736995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255736995" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Glu42", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113363537", "evidence": [ { "id": "rs13461871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13461871" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Glu453", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113349811", "evidence": [ { "id": "rs578836758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578836758" } ] }, { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113349810", "evidence": [ { "id": "rs584323797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584323797" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ala490", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113349701", "evidence": [ { "id": "rs3388660301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388660301" } ] } ] }, { "uniprot_canonical_ac": "P00687-1", "start_pos": "67", "end_pos": "67", "site_lbl": "His67", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "113363147", "evidence": [ { "id": "rs262780573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262780573" } ] } ] } ], "record_id": "P00687-1" }, { "uniprot_canonical_ac": "P27040-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 536, "chemical_mass": 60542.0, "gene_names": "Acvr2b;4930516B21Rik;AI047905;ActRIIB;Acvr2b", "protein_name": "Activin receptor type-2B", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.", "url": "https://disease-ontology.org/term/DOID:0050787", "evidence": [ { "id": "0050787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ], "weight": 0.0 }, { "disease_id": "DOID:0051019", "name": "visceral heterotaxy 4", "description": "A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0051019", "evidence": [ { "id": "0051019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051019" } ], "weight": 0.0 }, { "disease_id": "DOID:0060856", "name": "right atrial isomerism", "description": "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.", "url": "https://disease-ontology.org/term/DOID:0060856", "evidence": [ { "id": "0060856", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060856" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "inhibin binding", "id": "GO:0034711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034711", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "activin binding", "id": "GO:0048185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048185", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "activin receptor activity, type II", "id": "GO:0016362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016362", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "activin receptor activity", "id": "GO:0017002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017002", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" } ], "biological_process": [ { "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": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "positive regulation of activin receptor signaling pathway", "id": "GO:0032927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032927", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "lymphatic endothelial cell differentiation", "id": "GO:0060836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060836", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "venous blood vessel development", "id": "GO:0060841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060841", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "activin receptor complex", "id": "GO:0048179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048179", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P27040", "url": "https://www.uniprot.org/uniprotkb/P27040" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27040-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Thr131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 131, "start_aa": "Thr", "end_pos": 131, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr131", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P27040-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "P27040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27040#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P27040-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asn65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSGTIELVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 65, "start_aa": "Asn", "end_pos": 65, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn65", "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" } ] }, { "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": 65, "start_aa": "Asn", "end_pos": 65, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn65", "evidence": [ { "id": "P27040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27040#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P27040-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ile306", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "9", "chr_pos": "119259320", "evidence": [ { "id": "rs3400883091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400883091" } ] } ] } ], "record_id": "P27040-1" }, { "uniprot_canonical_ac": "Q8BLF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 408, "chemical_mass": 45740.0, "gene_names": "Nceh1;Aadacl1;B230106I24Rik;CPO-BP;Kiaa1363;Nceh1;Nceh", "protein_name": "Neutral cholesterol ester hydrolase 1", "disease": [], "molecular_function": [ { "name": "phosphate ion binding", "id": "GO:0042301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042301", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "acetylalkylglycerol acetylhydrolase activity", "id": "GO:0047378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047378", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" }, { "name": "ether lipid metabolic process", "id": "GO:0046485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046485", "evidence": [ { "database": "UniProtKB", "id": "Q8BLF1", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Asn270", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2560", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ] }, { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2560", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2560", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNYDFVEAMIVNNHTSLDVER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2560", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ] }, { "glytoucan_ac": "G72398FA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2560", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ] }, { "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": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "Q8BLF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Asn367", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G65363KE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RLESAGVNVTLDHFEDGFHGCMIFTSWPTNFSVGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 367, "start_aa": "Asn", "end_pos": 367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn367", "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" } ] }, { "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": 367, "start_aa": "Asn", "end_pos": 367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn367", "evidence": [ { "id": "Q8BLF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asn389", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92297LI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LESAGVNVTLDHFEDGFHGCMIFTSWPTNFSVGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 389, "start_aa": "Asn", "end_pos": 389, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn389", "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" } ] }, { "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": 389, "start_aa": "Asn", "end_pos": 389, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn389", "evidence": [ { "id": "Q8BLF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLF1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Val109", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27277004", "evidence": [ { "id": "rs3392847675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392847675" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Phe155", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27293707", "evidence": [ { "id": "rs3388627333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388627333" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asp176", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27293771", "evidence": [ { "id": "rs3388607681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607681" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ile187", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27293802", "evidence": [ { "id": "rs5525984363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525984363" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Tyr221", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295401", "evidence": [ { "id": "rs3392825386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392825386" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Pro222", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295405", "evidence": [ { "id": "rs3392857276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392857276" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Val223", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295408", "evidence": [ { "id": "rs3392794366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392794366" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295407", "evidence": [ { "id": "rs3392863475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392863475" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Asn230", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295430", "evidence": [ { "id": "rs46192522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46192522" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Tyr234", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295440", "evidence": [ { "id": "rs3388612930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612930" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Leu243", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295468", "evidence": [ { "id": "rs3388607712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607712" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295467", "evidence": [ { "id": "rs3388627382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388627382" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Arg245", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295474", "evidence": [ { "id": "rs3388620549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388620549" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Val276", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295566", "evidence": [ { "id": "rs3388620129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388620129" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Arg278", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295573", "evidence": [ { "id": "rs3388624512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624512" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ala281", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295581", "evidence": [ { "id": "rs3388615937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615937" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Lys297", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295630", "evidence": [ { "id": "rs3388624560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624560" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ile303", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295647", "evidence": [ { "id": "rs51814482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51814482" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Asn309", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295667", "evidence": [ { "id": "rs3388626500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388626500" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Trp386", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27295897", "evidence": [ { "id": "rs3388616018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616018" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ala38", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27237338", "evidence": [ { "id": "rs3392825759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392825759" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27237338", "evidence": [ { "id": "rs3392825759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392825759" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Gly42", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27237351", "evidence": [ { "id": "rs3392639333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392639333" } ] } ] }, { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "27276878", "evidence": [ { "id": "rs226993496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226993496" } ] } ] } ], "record_id": "Q8BLF1-1" }, { "uniprot_canonical_ac": "Q91WC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 640, "chemical_mass": 70863.0, "gene_names": "Pot1;1500031H18Rik;Pot1a;Pot1", "protein_name": "Protection of telomeres protein 1", "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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:6846", "name": "familial melanoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6846", "evidence": [ { "id": "6846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6846" } ], "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 } ], "molecular_function": [ { "name": "G-rich strand telomeric DNA binding", "id": "GO:0098505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098505", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "telomeric DNA binding", "id": "GO:0042162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042162", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "single-stranded telomeric DNA binding", "id": "GO:0043047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043047", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "telomerase inhibitor activity", "id": "GO:0010521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010521", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "nuclear telomere cap complex", "id": "GO:0000783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000783", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" } ], "biological_process": [ { "name": "telomere capping", "id": "GO:0016233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016233", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "regulation of telomere maintenance via telomerase", "id": "GO:0032210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032210", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "telomere maintenance via telomerase", "id": "GO:0007004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007004", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q91WC1", "url": "https://www.uniprot.org/uniprotkb/Q91WC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91WC1-1" }, { "uniprot_canonical_ac": "Q8BGY9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 580, "chemical_mass": 63365.0, "gene_names": "Slc5a7;CHT1;Cht1;Slc5a7", "protein_name": "High affinity choline transporter 1", "disease": [ { "disease_id": "DOID:0110661", "name": "congenital myasthenic syndrome 20", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.", "url": "https://disease-ontology.org/term/DOID:0110661", "evidence": [ { "id": "0110661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110661" } ], "weight": 0.0 }, { "disease_id": "DOID:0111199", "name": "autosomal dominant distal hereditary motor neuronopathy 7", "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.", "url": "https://disease-ontology.org/term/DOID:0111199", "evidence": [ { "id": "0111199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111199" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "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 } ], "molecular_function": [ { "name": "choline binding", "id": "GO:0033265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033265", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "choline:sodium symporter activity", "id": "GO:0005307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005307", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "acetylcholine biosynthetic process", "id": "GO:0008292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008292", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045334", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q8BGY9", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGY9-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Asn301", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 301, "start_aa": "Asn", "end_pos": 301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn301", "evidence": [ { "id": "Q8BGY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BGY9#ptm_processing" } ] } ] } ], "record_id": "Q8BGY9-1" }, { "uniprot_canonical_ac": "P42230-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 793, "chemical_mass": 90831.0, "gene_names": "Stat5a;Mgf;Mpf;STAT5;Stat5a", "protein_name": "Signal transducer and activator of transcription 5A", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0080836", "name": "growth hormone insensitivity syndrome with immune dysregulation 1", "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080836", "evidence": [ { "id": "0080836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080836" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 } ], "biological_process": [ { "name": "natural killer cell differentiation", "id": "GO:0001779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001779", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-4-mediated signaling pathway", "id": "GO:0035771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035771", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-2-mediated signaling pathway", "id": "GO:0038110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038110", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "development of secondary female sexual characteristics", "id": "GO:0046543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046543", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "negative regulation of mast cell apoptotic process", "id": "GO:0033026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033026", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "eosinophil differentiation", "id": "GO:0030222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030222", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-5-mediated signaling pathway", "id": "GO:0038043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038043", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-3-mediated signaling pathway", "id": "GO:0038156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038156", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "development of secondary male sexual characteristics", "id": "GO:0046544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046544", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "Peyer's patch development", "id": "GO:0048541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048541", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "activated T cell proliferation", "id": "GO:0050798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050798", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-7-mediated signaling pathway", "id": "GO:0038111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038111", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in prostate gland development", "id": "GO:0060742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060742", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "cellular response to granulocyte macrophage colony-stimulating factor stimulus", "id": "GO:0097011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097011", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "myeloid cell apoptotic process", "id": "GO:0033028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033028", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "reelin-mediated signaling pathway", "id": "GO:0038026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038026", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "negative regulation of erythrocyte differentiation", "id": "GO:0045647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045647", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of lymphocyte differentiation", "id": "GO:0045621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045621", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "luteinization", "id": "GO:0001553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001553", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "regulation of steroid metabolic process", "id": "GO:0019218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019218", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "taurine metabolic process", "id": "GO:0019530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019530", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "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": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "thrombopoietin-mediated signaling pathway", "id": "GO:0038163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038163", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "gamma-delta T cell differentiation", "id": "GO:0042492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042492", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of mast cell proliferation", "id": "GO:0070668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070668", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell lineage commitment", "id": "GO:2000329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000329", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-15-mediated signaling pathway", "id": "GO:0035723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035723", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "interleukin-9-mediated signaling pathway", "id": "GO:0038113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038113", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "positive regulation of mast cell differentiation", "id": "GO:0060376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060376", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphate ion binding", "id": "GO:0042301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042301", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P42230-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Thr92", "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": 92, "start_aa": "Thr", "end_pos": 92, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr92", "evidence": [ { "id": "28074064", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28074064" }, { "id": "P42230", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P42230" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Tyr682", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" }, { "database": "iPTMnet", "id": "P42230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P42230" }, { "database": "PubMed", "id": "11413148", "url": "https://glygen.org/publication/PubMed/11413148" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Tyr694", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q00342-1", "kinase_gene_name": "Flt3", "evidence": [ { "database": "iPTMnet", "id": "P42230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P42230" }, { "database": "PubMed", "id": "17356133", "url": "https://glygen.org/publication/PubMed/17356133" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P42230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P42230" }, { "database": "PubMed", "id": "12388746", "url": "https://glygen.org/publication/PubMed/12388746" }, { "database": "PubMed", "id": "12732616", "url": "https://glygen.org/publication/PubMed/12732616" }, { "database": "PubMed", "id": "18215306", "url": "https://glygen.org/publication/PubMed/18215306" }, { "database": "PubMed", "id": "21860432", "url": "https://glygen.org/publication/PubMed/21860432" }, { "database": "PubMed", "id": "21949826", "url": "https://glygen.org/publication/PubMed/21949826" }, { "database": "PubMed", "id": "23457589", "url": "https://glygen.org/publication/PubMed/23457589" }, { "database": "PubMed", "id": "24412367", "url": "https://glygen.org/publication/PubMed/24412367" }, { "database": "PubMed", "id": "25231404", "url": "https://glygen.org/publication/PubMed/25231404" }, { "database": "PubMed", "id": "25826077", "url": "https://glygen.org/publication/PubMed/25826077" }, { "database": "PubMed", "id": "25880134", "url": "https://glygen.org/publication/PubMed/25880134" }, { "database": "PubMed", "id": "26710253", "url": "https://glygen.org/publication/PubMed/26710253" }, { "database": "PubMed", "id": "26799659", "url": "https://glygen.org/publication/PubMed/26799659" }, { "database": "PubMed", "id": "27173727", "url": "https://glygen.org/publication/PubMed/27173727" }, { "database": "PubMed", "id": "28066259", "url": "https://glygen.org/publication/PubMed/28066259" }, { "database": "PubMed", "id": "28329851", "url": "https://glygen.org/publication/PubMed/28329851" }, { "database": "PubMed", "id": "28867537", "url": "https://glygen.org/publication/PubMed/28867537" }, { "database": "PubMed", "id": "28913408", "url": "https://glygen.org/publication/PubMed/28913408" }, { "database": "PubMed", "id": "30622248", "url": "https://glygen.org/publication/PubMed/30622248" }, { "database": "PubMed", "id": "32705545", "url": "https://glygen.org/publication/PubMed/32705545" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P42230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P42230" }, { "database": "PubMed", "id": "23565285", "url": "https://glygen.org/publication/PubMed/23565285" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Ser779", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" }, { "database": "iPTMnet", "id": "P42230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P42230" }, { "database": "PubMed", "id": "12732616", "url": "https://glygen.org/publication/PubMed/12732616" } ] } ] }, { "uniprot_canonical_ac": "P42230-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P42230", "url": "https://www.uniprot.org/uniprotkb/P42230" } ] } ] } ], "record_id": "P42230-1" }, { "uniprot_canonical_ac": "Q64729-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 56179.0, "gene_names": "Tgfbr1;ALK5;Alk-5;ESK2;TGFR-1;TbetaR-I;TbetaRI;Tgfbr1", "protein_name": "TGF-beta receptor type-1", "disease": [ { "disease_id": "DOID:0050466", "name": "Loeys-Dietz syndrome", "description": "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.", "url": "https://disease-ontology.org/term/DOID:0050466", "evidence": [ { "id": "0050466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050466" } ], "weight": 0.0 }, { "disease_id": "DOID:0070235", "name": "Loeys-Dietz syndrome 1", "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0070235", "evidence": [ { "id": "0070235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070235" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "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: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5585", "name": "Ferguson-Smith tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5585", "evidence": [ { "id": "5585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5585" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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 } ], "biological_process": [ { "name": "regulation of epithelial to mesenchymal transition", "id": "GO:0010717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010717", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "parathyroid gland development", "id": "GO:0060017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060017", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "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": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "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": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "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": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of tight junction disassembly", "id": "GO:1905075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905075", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "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": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:1905007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905007", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell proliferation", "id": "GO:1902462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902462", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ventricular compact myocardium morphogenesis", "id": "GO:0003223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003223", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "angiogenesis involved in coronary vascular morphogenesis", "id": "GO:0060978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060978", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "epicardium morphogenesis", "id": "GO:1905223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905223", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "vascular endothelial cell proliferation", "id": "GO:0101023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101023", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "myofibroblast differentiation", "id": "GO:0036446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036446", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "positive regulation of vasculature development", "id": "GO:1904018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904018", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "transmembrane receptor protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity", "id": "GO:0005024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005024", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "activin receptor activity, type I", "id": "GO:0016361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016361", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "activin binding", "id": "GO:0048185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048185", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "type II transforming growth factor beta receptor binding", "id": "GO:0005114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005114", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "activin receptor complex", "id": "GO:0048179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048179", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" }, { "name": "transforming growth factor beta ligand-receptor complex", "id": "GO:0070021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070021", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64729-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "Q64729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64729#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Thr186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] }, { "uniprot_canonical_ac": "Q64729-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64729", "url": "https://www.uniprot.org/uniprotkb/Q64729" }, { "database": "PRO", "id": "Q64729", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q64729" }, { "database": "iPTMnet", "id": "Q64729", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64729" }, { "database": "PubMed", "id": "12065756", "url": "https://glygen.org/publication/PubMed/12065756" } ] } ] } ], "record_id": "Q64729-1" }, { "uniprot_canonical_ac": "P31786-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 87, "chemical_mass": 10000.0, "gene_names": "Dbi;ACBD1;Acbp;Dbi;EP;endozepine", "protein_name": "Acyl-CoA-binding protein", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "protein-lipid complex", "id": "GO:0032994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032994", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "phosphatidylcholine acyl-chain remodeling", "id": "GO:0036151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036151", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "positive regulation of phospholipid transport", "id": "GO:2001140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001140", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "benzodiazepine receptor binding", "id": "GO:0030156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030156", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA binding", "id": "GO:0036042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036042", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31786-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Tyr29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31786", "url": "https://www.uniprot.org/uniprotkb/P31786" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P31786", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31786" } ] } ] } ], "record_id": "P31786-1" }, { "uniprot_canonical_ac": "Q3UHJ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 959, "chemical_mass": 103346.0, "gene_names": "Aak1;5530400K14Rik;9630042K20;Aak1;D6Ertd245e;Gm38495;Kiaa1048;mKIAA1048", "protein_name": "AP2-associated protein kinase 1", "disease": [ { "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 } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "clathrin complex", "id": "GO:0071439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071439", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "AP-2 adaptor complex binding", "id": "GO:0035612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035612", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" }, { "name": "presynaptic endocytosis", "id": "GO:0140238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140238", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Thr354", "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": 354, "start_aa": "Thr", "end_pos": 354, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr354", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Thr359", "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": 359, "start_aa": "Thr", "end_pos": 359, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr359", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Thr360", "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": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Thr395", "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": 395, "start_aa": "Thr", "end_pos": 395, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr395", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Ser406", "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": 406, "start_aa": "Ser", "end_pos": 406, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser406", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "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": 414, "start_aa": "Ser", "end_pos": 414, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser414", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Ser416", "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": 416, "start_aa": "Ser", "end_pos": 416, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser416", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 423, "start_aa": "Thr", "end_pos": 423, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr423", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Thr441", "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": 441, "start_aa": "Thr", "end_pos": 441, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr441", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 441, "start_aa": "Thr", "end_pos": 441, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr441", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "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": 445, "start_aa": "Thr", "end_pos": 445, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr445", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Thr448", "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": 448, "start_aa": "Thr", "end_pos": 448, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr448", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ser572", "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": 572, "start_aa": "Ser", "end_pos": 572, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser572", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Thr578", "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": 578, "start_aa": "Thr", "end_pos": 578, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr578", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "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": 635, "start_aa": "Ser", "end_pos": 635, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser635", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Ser648", "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": 648, "start_aa": "Ser", "end_pos": 648, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser648", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Asn664", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77228NV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "STQLLQAAAAEASLNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 664, "start_aa": "Asn", "end_pos": 664, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn664", "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": "Q3UHJ0-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Thr670", "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": 670, "start_aa": "Thr", "end_pos": 670, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr670", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Thr740", "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": 740, "start_aa": "Thr", "end_pos": 740, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr740", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UHJ0" }, { "id": "36731797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36731797" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Thr746", "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": 746, "start_aa": "Thr", "end_pos": 746, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr746", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Thr747", "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": 747, "start_aa": "Thr", "end_pos": 747, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr747", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Ser749", "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": 749, "start_aa": "Ser", "end_pos": 749, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser749", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "751", "end_pos": "751", "site_lbl": "Ser751", "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": 751, "start_aa": "Ser", "end_pos": 751, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser751", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Thr846", "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": 846, "start_aa": "Thr", "end_pos": 846, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr846", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UHJ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Asn934", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSGSSESSLPNLAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 934, "start_aa": "Asn", "end_pos": 934, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn934", "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": "Q3UHJ0-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Tyr234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Thr389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Thr604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Ser616", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Thr618", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ser621", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Thr651", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "844", "end_pos": "844", "site_lbl": "Ser844", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Ser935", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Ser936", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHJ0", "url": "https://www.uniprot.org/uniprotkb/Q3UHJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHJ0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHJ0-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Lys338", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "6", "chr_pos": "86927801", "evidence": [ { "id": "rs3388840609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388840609" } ] } ] } ], "record_id": "Q3UHJ0-1" }, { "uniprot_canonical_ac": "E9Q4F7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2643, "chemical_mass": 296186.0, "gene_names": "Ankrd11;2410104C19Rik;3010027A04Rik;6330578C09Rik;9530048I21Rik;Ankrd11;Gm176;Yod", "protein_name": "Ankyrin repeat domain-containing protein 11", "disease": [ { "disease_id": "DOID:14780", "name": "KBG syndrome", "description": "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.", "url": "https://disease-ontology.org/term/DOID:14780", "evidence": [ { "id": "14780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14780" } ], "weight": 0.0 } ], "biological_process": [ { "name": "head morphogenesis", "id": "GO:0060323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060323", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "neuroblast migration", "id": "GO:0097402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097402", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "localization of cell", "id": "GO:0051674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051674", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "cardiac neural crest cell differentiation involved in heart development", "id": "GO:0061307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061307", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2030", "end_pos": "2030", "site_lbl": "Thr2030", "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": 2030, "start_aa": "Thr", "end_pos": 2030, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2030", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "E9Q4F7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q4F7" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q4F7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2161", "end_pos": "2161", "site_lbl": "Thr2161", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2161, "start_aa": "Thr", "end_pos": 2161, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2161", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2263", "end_pos": "2263", "site_lbl": "Thr2263", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2263, "start_aa": "Thr", "end_pos": 2263, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2263", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2344", "end_pos": "2344", "site_lbl": "Thr2344", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2344, "start_aa": "Thr", "end_pos": 2344, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2344", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "8", "chr_pos": "123616758", "evidence": [ { "id": "rs3547041987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547041987" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Asn394", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNTLAPKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 394, "start_aa": "Asn", "end_pos": 394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn394", "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": "E9Q4F7-1", "start_pos": "1070", "end_pos": "1070", "site_lbl": "Ser1070", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1111", "end_pos": "1111", "site_lbl": "Thr1111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1114", "end_pos": "1114", "site_lbl": "Ser1114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1676", "end_pos": "1676", "site_lbl": "Ser1676", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1777", "end_pos": "1777", "site_lbl": "Ser1777", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1832", "end_pos": "1832", "site_lbl": "Ser1832", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1835", "end_pos": "1835", "site_lbl": "Tyr1835", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1836", "end_pos": "1836", "site_lbl": "Tyr1836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1837", "end_pos": "1837", "site_lbl": "Ser1837", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1844", "end_pos": "1844", "site_lbl": "Ser1844", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1981", "end_pos": "1981", "site_lbl": "Ser1981", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2139", "end_pos": "2139", "site_lbl": "Ser2139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4F7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Thr410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Ser838", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "1722", "end_pos": "1722", "site_lbl": "Asp1722", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "8", "chr_pos": "123618624", "evidence": [ { "id": "rs3389011742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389011742" } ] } ] }, { "uniprot_canonical_ac": "E9Q4F7-1", "start_pos": "2502", "end_pos": "2502", "site_lbl": "Glu2502", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "In Yoda; protein degradation is impaired. Homozygotes are embryonic lethal. Heterozygotes have reduced body size, craniofacial abnormalities, and reduced bone mineral density.", "evidence": [ { "database": "UniProtKB", "id": "E9Q4F7", "url": "https://www.uniprot.org/uniprotkb/E9Q4F7" }, { "database": "PubMed", "id": "25413698", "url": "https://glygen.org/publication/PubMed/25413698" }, { "database": "PubMed", "id": "17986521", "url": "https://glygen.org/publication/PubMed/17986521" } ] } ] } ], "record_id": "E9Q4F7-1" }, { "uniprot_canonical_ac": "Q8R400-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 80, "chemical_mass": 9362.0, "gene_names": "Adig;Adig;SMAF-1;Smaf1", "protein_name": "Adipogenin", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" }, { "name": "lipid droplet formation", "id": "GO:0140042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140042", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R400-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R400", "url": "https://www.uniprot.org/uniprotkb/Q8R400" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R400" } ] } ] } ], "record_id": "Q8R400-1" }, { "uniprot_canonical_ac": "P97717-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 56418.0, "gene_names": "Adra1b", "protein_name": "Alpha-1B adrenergic receptor", "disease": [ { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of glycogen catabolic process", "id": "GO:0045819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045819", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "negative regulation of glycogen catabolic process", "id": "GO:0045818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045818", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "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": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "positive regulation of heart rate by epinephrine-norepinephrine", "id": "GO:0001996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001996", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "positive regulation of the force of heart contraction by epinephrine-norepinephrine", "id": "GO:0001997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001997", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "negative regulation of Rho protein signal transduction", "id": "GO:0035024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035024", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure", "id": "GO:0001987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001987", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "neuron-glial cell signaling", "id": "GO:0150099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150099", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by carotid sinus baroreceptor feedback", "id": "GO:0001978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001978", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" }, { "name": "alpha1-adrenergic receptor activity", "id": "GO:0004937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004937", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97717-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Asn10", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 10, "start_aa": "Asn", "end_pos": 10, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn10", "evidence": [ { "id": "P97717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97717#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97717-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asn24", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 24, "start_aa": "Asn", "end_pos": 24, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn24", "evidence": [ { "id": "P97717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97717#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97717-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Asn29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 29, "start_aa": "Asn", "end_pos": 29, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn29", "evidence": [ { "id": "P97717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97717#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97717-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asn34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "P97717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97717#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97717-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97717", "url": "https://www.uniprot.org/uniprotkb/P97717" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97717", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97717" } ] } ] } ], "record_id": "P97717-1" }, { "uniprot_canonical_ac": "Q8VHH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1145, "chemical_mass": 129085.0, "gene_names": "Adcy3;AC3;ACIII;Adcy3;mKIAA0511", "protein_name": "Adenylate cyclase type 3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "calcium- and calmodulin-responsive adenylate cyclase activity", "id": "GO:0008294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008294", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "apical cytoplasm", "id": "GO:0090651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090651", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "non-motile cilium membrane", "id": "GO:0098804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098804", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "dendritic knob", "id": "GO:0098788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098788", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "ciliary necklace", "id": "GO:0097538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097538", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" } ], "biological_process": [ { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "activation of adenylate cyclase activity", "id": "GO:0007190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007190", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "acrosome reaction", "id": "GO:0007340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007340", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "1131", "end_pos": "1131", "site_lbl": "Asn1131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DRPAAFPNGSSVTLPHQVVDNP", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1131, "start_aa": "Asn", "end_pos": 1131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1131", "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": "Q8VHH7-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Asn735", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "Q8VHH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Asn828", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MQVLATPGLNGTDSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 828, "start_aa": "Asn", "end_pos": 828, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn828", "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": "Q8VHH7-1", "start_pos": "1077", "end_pos": "1077", "site_lbl": "Ser1077", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" }, { "database": "PRO", "id": "Q8VHH7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8VHH7" }, { "database": "iPTMnet", "id": "Q8VHH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHH7" }, { "database": "PubMed", "id": "23077041", "url": "https://glygen.org/publication/PubMed/23077041" }, { "database": "PubMed", "id": "9768837", "url": "https://glygen.org/publication/PubMed/9768837" } ] } ] }, { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" } ] } ] }, { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ser579", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHH7" } ] } ] }, { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Ile487", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IET->NET).", "chr_id": "12", "chr_pos": "4248399", "evidence": [ { "id": "rs3389229467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389229467" } ] } ] }, { "uniprot_canonical_ac": "Q8VHH7-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Met279", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "In Jll; dominant allele that increases enzyme activity, and decreases fasting insulin levels, fasting leptin levels, weight gain and fat accumulation when mice are kept on a high fat diet.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHH7", "url": "https://www.uniprot.org/uniprotkb/Q8VHH7" }, { "database": "PubMed", "id": "25329148", "url": "https://glygen.org/publication/PubMed/25329148" } ] } ] } ], "record_id": "Q8VHH7-1" }, { "uniprot_canonical_ac": "Q99K67-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 926, "chemical_mass": 102975.0, "gene_names": "Aass;Aass;LKR/SDH;LKR;LOR/SDH;LOR;Lorsdh;SDH", "protein_name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial", "disease": [ { "disease_id": "DOID:9274", "name": "hyperlysinemia", "description": "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.", "url": "https://disease-ontology.org/term/DOID:9274", "evidence": [ { "id": "9274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9274" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "saccharopine dehydrogenase activity", "id": "GO:0004753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004753", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "saccharopine dehydrogenase (NADP+, L-lysine-forming) activity", "id": "GO:0047130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047130", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity", "id": "GO:0047131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047131", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" } ], "biological_process": [ { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "lysine catabolic process", "id": "GO:0006554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006554", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "lysine biosynthetic process via aminoadipic acid", "id": "GO:0019878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019878", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "L-lysine catabolic process to acetyl-CoA via saccharopine", "id": "GO:0033512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033512", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "L-lysine catabolic process", "id": "GO:0019477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019477", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" }, { "name": "lysine metabolic process", "id": "GO:0006553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006553", "evidence": [ { "database": "UniProtKB", "id": "Q99K67", "url": "https://www.uniprot.org/uniprotkb/Q99K67" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99K67-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Thr580", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 580, "start_aa": "Thr", "end_pos": 580, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr580", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99K67-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Asp790", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "6", "chr_pos": "23075768", "evidence": [ { "id": "rs3388801332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801332" } ] } ] } ], "record_id": "Q99K67-1" }, { "uniprot_canonical_ac": "O88444-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1118, "chemical_mass": 123373.0, "gene_names": "Adcy1;AC1;Adcy1;D11Bwg1392e;I-AC;brl", "protein_name": "Adenylate cyclase type 1", "disease": [ { "disease_id": "DOID:0110501", "name": "autosomal recessive nonsyndromic deafness 44", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.", "url": "https://disease-ontology.org/term/DOID:0110501", "evidence": [ { "id": "0110501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110501" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "calcium- and calmodulin-responsive adenylate cyclase activity", "id": "GO:0008294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008294", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" } ], "biological_process": [ { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "activation of adenylate cyclase activity", "id": "GO:0007190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007190", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" }, { "name": "neuroinflammatory response", "id": "GO:0150076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150076", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88444-1", "start_pos": "1105", "end_pos": "1105", "site_lbl": "Thr1105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1105, "start_aa": "Thr", "end_pos": 1105, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1105", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88444-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Asn703", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 703, "start_aa": "Asn", "end_pos": 703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn703", "evidence": [ { "id": "O88444", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88444#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88444-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88444", "url": "https://www.uniprot.org/uniprotkb/O88444" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88444" } ] } ] }, { "uniprot_canonical_ac": "O88444-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ala275", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "11", "chr_pos": "7050606", "evidence": [ { "id": "rs3389153202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389153202" } ] } ] } ], "record_id": "O88444-1" }, { "uniprot_canonical_ac": "P03958-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 39992.0, "gene_names": "Ada;Ada", "protein_name": "Adenosine deaminase", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "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:10457", "name": "Legionnaires' disease", "description": "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.", "url": "https://disease-ontology.org/term/DOID:10457", "evidence": [ { "id": "10457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10457" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11100", "name": "Q fever", "description": "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.", "url": "https://disease-ontology.org/term/DOID:11100", "evidence": [ { "id": "11100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11100" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:13276", "name": "Mycoplasma pneumoniae pneumonia", "description": "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.", "url": "https://disease-ontology.org/term/DOID:13276", "evidence": [ { "id": "13276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13276" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14484", "name": "sporotrichosis", "description": "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.", "url": "https://disease-ontology.org/term/DOID:14484", "evidence": [ { "id": "14484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14484" } ], "weight": 0.0 }, { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:5810", "name": "adenosine deaminase deficiency", "description": "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.", "url": "https://disease-ontology.org/term/DOID:5810", "evidence": [ { "id": "5810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5810" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of T cell differentiation in thymus", "id": "GO:0033081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033081", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "adenosine catabolic process", "id": "GO:0006154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006154", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "inosine biosynthetic process", "id": "GO:0046103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046103", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0042323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042323", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "germinal center B cell differentiation", "id": "GO:0002314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002314", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of germinal center formation", "id": "GO:0002636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002636", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of mature B cell apoptotic process", "id": "GO:0002906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002906", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "deoxyadenosine catabolic process", "id": "GO:0006157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006157", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "purine nucleotide salvage", "id": "GO:0032261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032261", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033632", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "hypoxanthine salvage", "id": "GO:0043103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043103", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "dATP catabolic process", "id": "GO:0046061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046061", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "xanthine biosynthetic process", "id": "GO:0046111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046111", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "Peyer's patch development", "id": "GO:0048541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048541", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of adenosine receptor signaling pathway", "id": "GO:0060169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060169", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of penile erection", "id": "GO:0060407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060407", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "AMP catabolic process", "id": "GO:0006196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006196", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "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": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "hypoxanthine biosynthetic process", "id": "GO:0046101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046101", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "dAMP catabolic process", "id": "GO:0046059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046059", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "inhibition of non-skeletal tissue mineralization", "id": "GO:0140928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140928", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenosine deaminase activity", "id": "GO:0004000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004000", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "purine nucleoside binding", "id": "GO:0001883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001883", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "deaminase activity", "id": "GO:0019239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019239", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "2'-deoxyadenosine deaminase activity", "id": "GO:0046936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046936", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "cytoplasmic vesicle lumen", "id": "GO:0060205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060205", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P03958-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Glu217", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Reduces catalytic activity 700-fold. No effect on affinity for adenosine.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8634299", "url": "https://glygen.org/publication/PubMed/8634299" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Reduces catalytic activity 3200-fold. No effect on affinity for adenosine.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8634299", "url": "https://glygen.org/publication/PubMed/8634299" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Reduces catalytic activity 4800-fold, and slightly increases affinity for substrate.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8634299", "url": "https://glygen.org/publication/PubMed/8634299" } ] }, { "sequence_org": "E", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8634299", "url": "https://glygen.org/publication/PubMed/8634299" } ] } ] }, { "uniprot_canonical_ac": "P03958-1", "start_pos": "238", "end_pos": "238", "site_lbl": "His238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Increases affinity for adenosine 20-fold. Reduces enzyme activity 500-fold.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8942668", "url": "https://glygen.org/publication/PubMed/8942668" } ] }, { "sequence_org": "H", "sequence_mut": "E", "comment": "Nearly abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8942668", "url": "https://glygen.org/publication/PubMed/8942668" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Reduces enzyme activity 1500-fold. No effect on affinity for adenosine.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8942668", "url": "https://glygen.org/publication/PubMed/8942668" } ] } ] }, { "uniprot_canonical_ac": "P03958-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asp295", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on affinity for adenosine. Reduces enzyme activity 2750-fold.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8672487", "url": "https://glygen.org/publication/PubMed/8672487" } ] } ] }, { "uniprot_canonical_ac": "P03958-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asp296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Reduces affinity for adenosine 70-fold. Reduces enzyme activity 110000-fold.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8672487", "url": "https://glygen.org/publication/PubMed/8672487" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Reduces affinity for adenosine 10-fold. Reduces enzyme activity 100-fold.", "evidence": [ { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprotkb/P03958" }, { "database": "PubMed", "id": "8672487", "url": "https://glygen.org/publication/PubMed/8672487" } ] } ] } ], "record_id": "P03958-1" }, { "uniprot_canonical_ac": "P05202-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 430, "chemical_mass": 47411.0, "gene_names": "Got2;FABP-pm;Got-2;Got2;Kyat4;mAspAT", "protein_name": "Aspartate aminotransferase, mitochondrial", "disease": [ { "disease_id": "DOID:0050709", "name": "early infantile epileptic encephalopathy", "description": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.", "url": "https://disease-ontology.org/term/DOID:0050709", "evidence": [ { "id": "0050709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050709" } ], "weight": 0.0 }, { "disease_id": "DOID:0080715", "name": "developmental and epileptic encephalopathy 82", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0080715", "evidence": [ { "id": "0080715", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080715" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "kynurenine-oxoglutarate transaminase activity", "id": "GO:0016212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016212", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "L-aspartate:2-oxoglutarate aminotransferase activity", "id": "GO:0004069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004069", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "amino acid binding", "id": "GO:0016597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016597", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" } ], "biological_process": [ { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "L-aspartate catabolic process", "id": "GO:0006533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006533", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "oxaloacetate metabolic process", "id": "GO:0006107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006107", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "aspartate metabolic process", "id": "GO:0006531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006531", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "aspartate biosynthetic process", "id": "GO:0006532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006532", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "L-glutamate catabolic process to aspartate", "id": "GO:0019550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019550", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "L-glutamate catabolic process", "id": "GO:0006538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006538", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P05202-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ] } ] }, { "uniprot_canonical_ac": "P05202-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ] } ] }, { "uniprot_canonical_ac": "P05202-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Tyr96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" } ] } ] }, { "uniprot_canonical_ac": "P05202-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Leu209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "", "comment": "Heterozygous mice are viable and healthy. Results in early lethality at homozygosity.", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" }, { "database": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] } ] }, { "uniprot_canonical_ac": "P05202-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Arg337", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Heterozygous mice are viable and healthy. Results in early lethality at homozygosity.", "evidence": [ { "database": "UniProtKB", "id": "P05202", "url": "https://www.uniprot.org/uniprotkb/P05202" }, { "database": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] } ] } ], "record_id": "P05202-1" }, { "uniprot_canonical_ac": "P13516-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 355, "chemical_mass": 41046.0, "gene_names": "Scd1;Scd-1;Scd1;Scd;ab", "protein_name": "Acyl-CoA desaturase 1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "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:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sebaceous gland development", "id": "GO:0048733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048733", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "monounsaturated fatty acid biosynthetic process", "id": "GO:1903966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903966", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "tarsal gland development", "id": "GO:1903699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903699", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "sterol homeostasis", "id": "GO:0055092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055092", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "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": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "stearoyl-CoA 9-desaturase activity", "id": "GO:0004768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004768", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "palmitoyl-CoA 9-desaturase activity", "id": "GO:0032896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032896", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprotkb/P13516" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13516-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ala108", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44391711", "evidence": [ { "id": "rs3389542447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542447" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Leu134", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44391632", "evidence": [ { "id": "rs3389553531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389553531" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ala150", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390319", "evidence": [ { "id": "rs584597677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584597677" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Thr162", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390282", "evidence": [ { "id": "rs3389535231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535231" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Gly179", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390231", "evidence": [ { "id": "rs3389535246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535246" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Lys192", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390193", "evidence": [ { "id": "rs3389498502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498502" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Gly193", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390190", "evidence": [ { "id": "rs3389538132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538132" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asp200", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44390168", "evidence": [ { "id": "rs3389535230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535230" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Tyr232", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388753", "evidence": [ { "id": "rs3389542418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542418" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Cys233", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388750", "evidence": [ { "id": "rs3389543565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543565" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Tyr250", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388699", "evidence": [ { "id": "rs3389546061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546061" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Thr251", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388697", "evidence": [ { "id": "rs3389538092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538092" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Trp258", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388675", "evidence": [ { "id": "rs3409343148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409343148" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388677", "evidence": [ { "id": "rs3409273561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409273561" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Leu259", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44388673", "evidence": [ { "id": "rs3409480520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409480520" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "298", "end_pos": "298", "site_lbl": "His298", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44386534", "evidence": [ { "id": "rs3389558062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389558062" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Phe302", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44386522", "evidence": [ { "id": "rs3389521613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521613" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Lys333", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44386428", "evidence": [ { "id": "rs3389546065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546065" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44386361", "evidence": [ { "id": "rs3389538111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538111" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Leu38", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44395112", "evidence": [ { "id": "rs3389535727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535727" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Met75", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44395001", "evidence": [ { "id": "rs3389542389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542389" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Leu78", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44394992", "evidence": [ { "id": "rs3389546093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546093" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ile87", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44394964", "evidence": [ { "id": "rs238004200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238004200" } ] } ] }, { "uniprot_canonical_ac": "P13516-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Cys97", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44394934", "evidence": [ { "id": "rs3389535696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535696" } ] } ] } ], "record_id": "P13516-1" }, { "uniprot_canonical_ac": "P51881-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 298, "chemical_mass": 32931.0, "gene_names": "Slc25a5;Aac2;Ant2;Slc25a5", "protein_name": "ADP/ATP translocase 2", "disease": [ { "disease_id": "DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0080335", "evidence": [ { "id": "0080335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080335" } ], "weight": 0.0 }, { "disease_id": "DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.", "url": "https://disease-ontology.org/term/DOID:0111517", "evidence": [ { "id": "0111517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111517" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "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:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "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": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901029", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990845", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "adenine nucleotide transport", "id": "GO:0051503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051503", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "mitochondrial ADP transmembrane transport", "id": "GO:0140021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140021", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "mitochondrial ATP transmembrane transport", "id": "GO:1990544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990544", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "ATP:ADP antiporter activity", "id": "GO:0005471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005471", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "adenine nucleotide transmembrane transporter activity", "id": "GO:0000295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000295", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "oxidative phosphorylation uncoupler activity", "id": "GO:0017077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017077", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "MMXD complex", "id": "GO:0071817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071817", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" }, { "name": "mitochondrial permeability transition pore complex", "id": "GO:0005757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005757", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51881-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "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": 42, "start_aa": "Ser", "end_pos": 42, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P51881", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P51881" } ] } ] }, { "uniprot_canonical_ac": "P51881-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51881", "url": "https://www.uniprot.org/uniprotkb/P51881" } ] } ] } ], "record_id": "P51881-1" }, { "uniprot_canonical_ac": "P56485-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 41636.0, "gene_names": "Ackr3;Ackr3;CXC-R7;CXCR-7;Cmkor1;Cxcr7;RDC-1;Rdc1", "protein_name": "Atypical chemokine receptor 3", "disease": [ { "disease_id": "DOID:2600", "name": "laryngeal carcinoma", "description": "A larynx cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2600", "evidence": [ { "id": "2600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2600" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "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": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "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": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902230", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell migration", "id": "GO:1905322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905322", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "oculomotor nerve development", "id": "GO:0021557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021557", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "C-X-C chemokine receptor activity", "id": "GO:0016494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016494", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "C-X-C chemokine binding", "id": "GO:0019958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019958", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56485-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Asn13", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 13, "start_aa": "Asn", "end_pos": 13, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn13", "evidence": [ { "id": "P56485", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P56485#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P56485-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Asn192", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TVTSASNNETYCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "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": "P56485-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Asn22", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 22, "start_aa": "Asn", "end_pos": 22, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn22", "evidence": [ { "id": "P56485", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P56485#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P56485-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56485", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56485" } ] } ] }, { "uniprot_canonical_ac": "P56485-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56485", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56485" } ] } ] }, { "uniprot_canonical_ac": "P56485-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56485", "url": "https://www.uniprot.org/uniprotkb/P56485" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56485", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56485" } ] } ] } ], "record_id": "P56485-1" }, { "uniprot_canonical_ac": "P84309-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1262, "chemical_mass": 139122.0, "gene_names": "Adcy5;Ac5;Adcy5", "protein_name": "Adenylate cyclase type 5", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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: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 } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "calcium- and calmodulin-responsive adenylate cyclase activity", "id": "GO:0008294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008294", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" } ], "biological_process": [ { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "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": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor signaling pathway", "id": "GO:0001973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001973", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "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": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P84309-1", "start_pos": "1137", "end_pos": "1137", "site_lbl": "Asn1137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TIGSTYMAASGLNDSTYDKAGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1137, "start_aa": "Asn", "end_pos": 1137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1137", "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": "P84309-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Asn239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P84309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Thr62", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 62, "start_aa": "Thr", "end_pos": 62, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr62", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Asn834", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P84309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Asn871", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 871, "start_aa": "Asn", "end_pos": 871, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn871", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P84309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Asn888", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 888, "start_aa": "Asn", "end_pos": 888, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn888", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P84309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Asn973", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 973, "start_aa": "Asn", "end_pos": 973, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn973", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P84309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "1012", "end_pos": "1012", "site_lbl": "Thr1012", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P84309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84309" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Ser667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "P84309", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P84309" }, { "database": "iPTMnet", "id": "P84309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84309" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84309", "url": "https://www.uniprot.org/uniprotkb/P84309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P84309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84309" } ] } ] }, { "uniprot_canonical_ac": "P84309-1", "start_pos": "1094", "end_pos": "1094", "site_lbl": "Gly1094", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEG->NEC).", "chr_id": "16", "chr_pos": "35118930", "evidence": [ { "id": "rs3389394645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389394645" } ] } ] } ], "record_id": "P84309-1" }, { "uniprot_canonical_ac": "P97490-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1249, "chemical_mass": 140095.0, "gene_names": "Adcy8;AC8;Adcy8", "protein_name": "Adenylate cyclase type 8", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "calcium- and calmodulin-responsive adenylate cyclase activity", "id": "GO:0008294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008294", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" } ], "biological_process": [ { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "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": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "activation of protein kinase A activity", "id": "GO:0034199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034199", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cellular response to glucagon stimulus", "id": "GO:0071377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071377", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "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": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cellular response to morphine", "id": "GO:0071315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071315", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "glucose mediated signaling pathway", "id": "GO:0010255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010255", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "G protein-coupled opioid receptor signaling pathway", "id": "GO:0038003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038003", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "regulation of cellular response to stress", "id": "GO:0080135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080135", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "neuroinflammatory response", "id": "GO:0150076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150076", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97490-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Asn777", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39290TB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TCCWINETYLAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 777, "start_aa": "Asn", "end_pos": 777, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn777", "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": "P97490-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Asn815", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 815, "start_aa": "Asn", "end_pos": 815, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn815", "evidence": [ { "id": "P97490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "819", "end_pos": "819", "site_lbl": "Asn819", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 819, "start_aa": "Asn", "end_pos": 819, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn819", "evidence": [ { "id": "P97490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Asn886", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 886, "start_aa": "Asn", "end_pos": 886, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn886", "evidence": [ { "id": "P97490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ser612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97490" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97490", "url": "https://www.uniprot.org/uniprotkb/P97490" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97490" } ] } ] }, { "uniprot_canonical_ac": "P97490-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Ser888", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->NHI).", "chr_id": "15", "chr_pos": "64609245", "evidence": [ { "id": "rs3389365130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389365130" } ] } ] } ], "record_id": "P97490-1" }, { "uniprot_canonical_ac": "Q14BT6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 39276.0, "gene_names": "A4gnt;A4gnt;Alpha4gnt;Gm798", "protein_name": "Alpha-1,4-N-acetylglucosaminyltransferase", "disease": [ { "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetylglucosaminyltransferase activity", "id": "GO:0008375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008375", "evidence": [ { "database": "UniProtKB", "id": "Q14BT6", "url": "https://www.uniprot.org/uniprotkb/Q14BT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "Q14BT6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14BT6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ala105", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495878", "evidence": [ { "id": "rs1133659428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133659428" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Val118", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495917", "evidence": [ { "id": "rs3389042408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042408" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Arg124", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495936", "evidence": [ { "id": "rs3389067728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389067728" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Lys137", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495976", "evidence": [ { "id": "rs3389074218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074218" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99502259", "evidence": [ { "id": "rs243864675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243864675" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ile165", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99502335", "evidence": [ { "id": "rs3400636446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400636446" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Leu174", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99502361", "evidence": [ { "id": "rs47087532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47087532" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Thr219", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99502496", "evidence": [ { "id": "rs46963092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46963092" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Thr300", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99502739", "evidence": [ { "id": "rs219745966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219745966" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495671", "evidence": [ { "id": "rs250866600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250866600" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Met67", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495764", "evidence": [ { "id": "rs217320876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217320876" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Leu91", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495837", "evidence": [ { "id": "rs3389068699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068699" } ] } ] }, { "uniprot_canonical_ac": "Q14BT6-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asp93", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99495842", "evidence": [ { "id": "rs3389060521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389060521" } ] } ] } ], "record_id": "Q14BT6-1" }, { "uniprot_canonical_ac": "Q640N1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1128, "chemical_mass": 128365.0, "gene_names": "Aebp1;ACLP;Aclp;Aebp1", "protein_name": "Adipocyte enhancer-binding protein 1", "disease": [ { "disease_id": "DOID:0080732", "name": "Ehlers-Danlos syndrome classic-like 2", "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.", "url": "https://disease-ontology.org/term/DOID:0080732", "evidence": [ { "id": "0080732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080732" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "regulation of collagen fibril organization", "id": "GO:1904026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904026", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "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": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "1040", "end_pos": "1040", "site_lbl": "Thr1040", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1040, "start_aa": "Thr", "end_pos": 1040, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1040", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "5821581", "evidence": [ { "id": "rs3389116968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389116968" } ] } ] }, { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Thr1050", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1050, "start_aa": "Thr", "end_pos": 1050, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1050", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Thr256", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 256, "start_aa": "Thr", "end_pos": 256, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr256", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asn519", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 519, "start_aa": "Asn", "end_pos": 519, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn519", "evidence": [ { "id": "Q640N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640N1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Asn913", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVVTDEQGIPIANATISVSGINHGVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 913, "start_aa": "Asn", "end_pos": 913, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn913", "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": "Q640N1-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Pro186", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "11", "chr_pos": "5814247", "evidence": [ { "id": "rs236460718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236460718" } ] } ] }, { "uniprot_canonical_ac": "Q640N1-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Thr1003", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs DNA-binding and phosphorylation by MAPK1.", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" }, { "database": "PubMed", "id": "15654748", "url": "https://glygen.org/publication/PubMed/15654748" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Impairs DNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q640N1", "url": "https://www.uniprot.org/uniprotkb/Q640N1" }, { "database": "PubMed", "id": "15654748", "url": "https://glygen.org/publication/PubMed/15654748" } ] } ] } ], "record_id": "Q640N1-1" }, { "uniprot_canonical_ac": "Q69ZX8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 682, "chemical_mass": 77630.0, "gene_names": "Ablim3;Ablim3;D930036B08Rik;Kiaa0843", "protein_name": "Actin-binding LIM protein 3", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" } ], "biological_process": [ { "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": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "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": 280, "start_aa": "Ser", "end_pos": 280, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser280", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "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": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MNTSIPYQQSPYSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "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": "Q69ZX8-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "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": 372, "start_aa": "Ser", "end_pos": 372, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser372", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "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": 383, "start_aa": "Ser", "end_pos": 383, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser383", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "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": 418, "start_aa": "Ser", "end_pos": 418, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser418", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "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": 419, "start_aa": "Ser", "end_pos": 419, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser419", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Thr420", "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": 420, "start_aa": "Thr", "end_pos": 420, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr420", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "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": 423, "start_aa": "Ser", "end_pos": 423, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser423", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Thr454", "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": 454, "start_aa": "Thr", "end_pos": 454, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr454", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Thr456", "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": 456, "start_aa": "Thr", "end_pos": 456, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr456", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Thr460", "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": 460, "start_aa": "Thr", "end_pos": 460, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr460", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "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": 465, "start_aa": "Ser", "end_pos": 465, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser465", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "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": 534, "start_aa": "Ser", "end_pos": 534, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser534", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Ser535", "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": 535, "start_aa": "Ser", "end_pos": 535, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser535", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Ser536", "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": 536, "start_aa": "Ser", "end_pos": 536, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser536", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "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": 546, "start_aa": "Ser", "end_pos": 546, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser546", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "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": 547, "start_aa": "Ser", "end_pos": 547, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser547", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Thr556", "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": 556, "start_aa": "Thr", "end_pos": 556, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr556", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "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": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Ser562", "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": 562, "start_aa": "Ser", "end_pos": 562, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser562", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Asn564", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EALHTTGYEMSFNGSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 564, "start_aa": "Asn", "end_pos": 564, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn564", "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": "Q69ZX8-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ser569", "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": 569, "start_aa": "Ser", "end_pos": 569, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser569", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "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": 580, "start_aa": "Ser", "end_pos": 580, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser580", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q69ZX8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69ZX8" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q69ZX8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ser277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Tyr376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "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": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Thr542", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "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": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Ser566", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Ser575", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] }, { "uniprot_canonical_ac": "Q69ZX8-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Ser606", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZX8", "url": "https://www.uniprot.org/uniprotkb/Q69ZX8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZX8" } ] } ] } ], "record_id": "Q69ZX8-1" }, { "uniprot_canonical_ac": "Q8BPZ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 46039.0, "gene_names": "Abraxas1;3830405G04Rik;5630400M01Rik;Abra1;Abraxas1;Ccdc98;Fam175a", "protein_name": "BRCA1-A complex subunit Abraxas 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "BRCA1-A complex", "id": "GO:0070531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070531", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" } ], "biological_process": [ { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BPZ8-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ] } ] }, { "uniprot_canonical_ac": "Q8BPZ8-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ] } ] }, { "uniprot_canonical_ac": "Q8BPZ8-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BPZ8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BPZ8" } ] } ] }, { "uniprot_canonical_ac": "Q8BPZ8-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" } ] } ] }, { "uniprot_canonical_ac": "Q8BPZ8-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPZ8", "url": "https://www.uniprot.org/uniprotkb/Q8BPZ8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BPZ8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BPZ8" } ] } ] } ], "record_id": "Q8BPZ8-1" }, { "uniprot_canonical_ac": "Q8R2Y0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 336, "chemical_mass": 38205.0, "gene_names": "Abhd6;0610041D24Rik;Abhd6", "protein_name": "Monoacylglycerol lipase ABHD6", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" } ], "biological_process": [ { "name": "lysobisphosphatidic acid metabolic process", "id": "GO:2001311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001311", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "regulation of retrograde trans-synaptic signaling by endocanabinoid", "id": "GO:0099178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099178", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "phospholipid catabolic process", "id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "acylglycerol catabolic process", "id": "GO:0046464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046464", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "long-term synaptic depression", "id": "GO:0060292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060292", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "regulation of endocannabinoid signaling pathway", "id": "GO:2000124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000124", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "monoacylglycerol catabolic process", "id": "GO:0052651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052651", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase activity", "id": "GO:0004620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004620", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" }, { "name": "monoacylglycerol lipase activity", "id": "GO:0047372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047372", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R2Y0-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of the lipid hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Y0", "url": "https://www.uniprot.org/uniprotkb/Q8R2Y0" }, { "database": "PubMed", "id": "24095738", "url": "https://glygen.org/publication/PubMed/24095738" } ] } ] } ], "record_id": "Q8R2Y0-1" }, { "uniprot_canonical_ac": "Q8R5A3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 670, "chemical_mass": 74319.0, "gene_names": "Apbb1ip;9930118P07Rik;Apbb1ip;Prel1;Prp48", "protein_name": "Amyloid beta A4 precursor protein-binding family B member 1-interacting protein", "disease": [], "biological_process": [ { "name": "T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "id": "GO:0002291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002291", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" }, { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R5A3-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5A3" } ] } ] }, { "uniprot_canonical_ac": "Q8R5A3-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Thr534", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5A3" } ] } ] }, { "uniprot_canonical_ac": "Q8R5A3-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5A3" } ] } ] }, { "uniprot_canonical_ac": "Q8R5A3-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5A3", "url": "https://www.uniprot.org/uniprotkb/Q8R5A3" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8R5A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5A3" } ] } ] } ], "record_id": "Q8R5A3-1" }, { "uniprot_canonical_ac": "Q91V92-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1091, "chemical_mass": 119728.0, "gene_names": "Acly;A730098H14Rik;Acly", "protein_name": "ATP-citrate synthase", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "ATP citrate synthase activity", "id": "GO:0003878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003878", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" } ], "biological_process": [ { "name": "citrate metabolic process", "id": "GO:0006101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006101", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "malonyl-CoA biosynthetic process", "id": "GO:2001295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001295", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "acetyl-CoA biosynthetic process", "id": "GO:0006085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006085", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "oxaloacetate metabolic process", "id": "GO:0006107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006107", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" }, { "name": "acyl-CoA biosynthetic process", "id": "GO:0071616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071616", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 447, "start_aa": "Thr", "end_pos": 447, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr447", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Thr810", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 810, "start_aa": "Thr", "end_pos": 810, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr810", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "1090", "end_pos": "1090", "site_lbl": "Ser1090", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91V92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Tyr131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Ser263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91V92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "iPTMnet", "id": "Q91V92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91V92" }, { "database": "PubMed", "id": "31675964", "url": "https://glygen.org/publication/PubMed/31675964" }, { "database": "PubMed", "id": "31996678", "url": "https://glygen.org/publication/PubMed/31996678" }, { "database": "PubMed", "id": "33397994", "url": "https://glygen.org/publication/PubMed/33397994" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Thr629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91V92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Tyr672", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q91V92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Ser829", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ala563", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "11", "chr_pos": "100389064", "evidence": [ { "id": "rs3389210536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210536" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Lys530", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by the BCR(KLHL25)complex, leading to imapired differentiation of inducible regulatory T (iTreg) cells; when associated with R-536 and R-544.", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "34491895", "url": "https://glygen.org/publication/PubMed/34491895" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Lys536", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by the BCR(KLHL25)complex, leading to imapired differentiation of inducible regulatory T (iTreg) cells; when associated with R-530 and R-544.", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "34491895", "url": "https://glygen.org/publication/PubMed/34491895" } ] } ] }, { "uniprot_canonical_ac": "Q91V92-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Lys544", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by the BCR(KLHL25)complex, leading to imapired differentiation of inducible regulatory T (iTreg) cells; when associated with R-530 and R-536.", "evidence": [ { "database": "UniProtKB", "id": "Q91V92", "url": "https://www.uniprot.org/uniprotkb/Q91V92" }, { "database": "PubMed", "id": "34491895", "url": "https://glygen.org/publication/PubMed/34491895" } ] } ] } ], "record_id": "Q91V92-1" }, { "uniprot_canonical_ac": "Q99LH9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 392, "chemical_mass": 43374.0, "gene_names": "Sh3bp5l;2310074E09Rik;Kiaa1720;Sh3bp5l;mKIAA1720", "protein_name": "SH3 domain-binding protein 5-like", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LH9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LH9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LH9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LH9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LH9" } ] } ] }, { "uniprot_canonical_ac": "Q99LH9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LH9", "url": "https://www.uniprot.org/uniprotkb/Q99LH9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LH9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LH9" } ] } ] } ], "record_id": "Q99LH9-1" }, { "uniprot_canonical_ac": "Q9D020-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 37252.0, "gene_names": "Nt5c3a;1600024P05Rik;2610206B05Rik;3110004A18Rik;Nt5c3a;Nt5c3;Nt5y;P5'N-1;P5N-1;PN-1;PN-I;PSN1;UMPH;Umph-1;Umph1;cN-III;lupin;p36", "protein_name": "Cytosolic 5'-nucleotidase 3A", "disease": [ { "disease_id": "DOID:0051007", "name": "congenital nonspherocytic hemolytic anemia 8", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.", "url": "https://disease-ontology.org/term/DOID:0051007", "evidence": [ { "id": "0051007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051007" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" }, { "name": "5'-nucleotidase activity", "id": "GO:0008253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008253", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleotide metabolic process", "id": "GO:0009117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009117", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" }, { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D020-3", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D020", "url": "https://www.uniprot.org/uniprotkb/Q9D020" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D020", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D020" } ] } ] } ], "record_id": "Q9D020-3" }, { "uniprot_canonical_ac": "Q9ERZ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 466, "chemical_mass": 51499.0, "gene_names": "Chrm2;AChR-M2;Chrm-2;Chrm2;M2", "protein_name": "Muscarinic acetylcholine receptor M2", "disease": [ { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. 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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "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": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "symmetric synapse", "id": "GO:0032280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032280", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007213", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled acetylcholine receptor activity", "id": "GO:0016907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016907", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" }, { "name": "arrestin family protein binding", "id": "GO:1990763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990763", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "evidence": [ { "id": "Q9ERZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "evidence": [ { "id": "Q9ERZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Asn6", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 6, "start_aa": "Asn", "end_pos": 6, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn6", "evidence": [ { "id": "Q9ERZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Thr302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Thr307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Thr310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Thr450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Thr465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ4", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ4" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ4-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "6", "chr_pos": "36501166", "evidence": [ { "id": "rs3388812842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812842" } ] } ] } ], "record_id": "Q9ERZ4-1" }, { "uniprot_canonical_ac": "Q9JHI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 499, "chemical_mass": 55355.0, "gene_names": "Adat1;Adat1;MMADAT1", "protein_name": "tRNA-specific adenosine deaminase 1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" }, { "name": "tRNA-specific adenosine deaminase activity", "id": "GO:0008251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008251", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" }, { "name": "tRNA-specific adenosine-37 deaminase activity", "id": "GO:0043829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043829", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JHI2-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHI2", "url": "https://www.uniprot.org/uniprotkb/Q9JHI2" }, { "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": "Q9JHI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHI2" } ] } ] } ], "record_id": "Q9JHI2-1" }, { "uniprot_canonical_ac": "Q9JI39-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 715, "chemical_mass": 77188.0, "gene_names": "Abcb10;Abc-me;Abcb10;Abcb12", "protein_name": "ATP-binding cassette sub-family B member 10, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "ABC-type oligopeptide transporter activity", "id": "GO:0015421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015421", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "ATP-binding cassette (ABC) transporter complex", "id": "GO:0043190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "positive regulation of hemoglobin biosynthetic process", "id": "GO:0046985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046985", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "oligopeptide export from mitochondrion", "id": "GO:0090374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090374", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "mitochondrial unfolded protein response", "id": "GO:0034514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034514", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "positive regulation of heme biosynthetic process", "id": "GO:0070455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070455", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" }, { "name": "export from the mitochondrion", "id": "GO:0170037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170037", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Gly497", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Decreases ATP binding about 50%.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] }, { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Lys498", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases ATP binding about 50%.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] }, { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Cys547", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect ABCB10 glutathionylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] }, { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Gly602", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Affects ATP hydrolysis but not binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Affects ATP hydrolysis but not binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] }, { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Glu624", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Affects ATP hydrolysis but not binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] }, { "uniprot_canonical_ac": "Q9JI39-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Cys675", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Prevents ABCB10 glutathionylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JI39", "url": "https://www.uniprot.org/uniprotkb/Q9JI39" }, { "database": "PubMed", "id": "26053025", "url": "https://glygen.org/publication/PubMed/26053025" } ] } ] } ], "record_id": "Q9JI39-1" }, { "uniprot_canonical_ac": "Q9WVM8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 425, "chemical_mass": 47598.0, "gene_names": "Aadat;Aadat;Aadt;KATII;Kat2;Kyat2;mKat-2", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "disease": [], "molecular_function": [ { "name": "kynurenine-glyoxylate transaminase activity", "id": "GO:0047315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047315", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "kynurenine-oxoglutarate transaminase activity", "id": "GO:0016212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016212", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "2-aminoadipate transaminase activity", "id": "GO:0047536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047536", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "glycine:2-oxoglutarate aminotransferase activity", "id": "GO:0047958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047958", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "methionine-glyoxylate transaminase activity", "id": "GO:0050094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050094", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" } ], "biological_process": [ { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "L-lysine catabolic process to acetyl-CoA via saccharopine", "id": "GO:0033512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033512", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "kynurenine metabolic process", "id": "GO:0070189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070189", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" }, { "name": "alpha-amino acid metabolic process", "id": "GO:1901605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901605", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVM8-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM8", "url": "https://www.uniprot.org/uniprotkb/Q9WVM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVM8" } ] } ] } ], "record_id": "Q9WVM8-1" }, { "uniprot_canonical_ac": "Q9Z103-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1108, "chemical_mass": 124308.0, "gene_names": "Adnp;Adnp;mKIAA0784", "protein_name": "Activity-dependent neuroprotector homeobox protein", "disease": [ { "disease_id": "DOID:0070058", "name": "Helsmoortel-Van Der Aa Syndrome", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.", "url": "https://disease-ontology.org/term/DOID:0070058", "evidence": [ { "id": "0070058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070058" } ], "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 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "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": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "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": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "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": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "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": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "intracellular nitric oxide homeostasis", "id": "GO:0033484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033484", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission", "id": "GO:0050805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050805", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "regulation of nitric oxide metabolic process", "id": "GO:0080164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080164", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Asn1055", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G75568BH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DQSQWENASENAER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1055, "start_aa": "Asn", "end_pos": 1055, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1055", "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": "Q9Z103-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "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": 358, "start_aa": "Ser", "end_pos": 358, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser358", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9Z103", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z103" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "Q9Z103", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "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": 408, "start_aa": "Ser", "end_pos": 408, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser408", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9Z103", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z103" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "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": 412, "start_aa": "Ser", "end_pos": 412, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser412", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9Z103", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z103" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "1077", "end_pos": "1077", "site_lbl": "Ser1077", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Ser607", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Ser708", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Ser737", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Ser804", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Ser877", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Ser885", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Ser888", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "904", "end_pos": "904", "site_lbl": "Ser904", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "959", "end_pos": "959", "site_lbl": "Ser959", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" }, { "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": "Q9Z103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] }, { "uniprot_canonical_ac": "Q9Z103-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z103", "url": "https://www.uniprot.org/uniprotkb/Q9Z103" } ] } ] } ], "record_id": "Q9Z103-1" }, { "uniprot_canonical_ac": "Q9Z131-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 463, "chemical_mass": 51807.0, "gene_names": "Sh3bp5;SH3BP-5;Sab;Sh3bp5", "protein_name": "SH3 domain-binding protein 5", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Thr332", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 332, "start_aa": "Thr", "end_pos": 332, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr332", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z131", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z131" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z131", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z131" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z131", "url": "https://www.uniprot.org/uniprotkb/Q9Z131" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z131", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z131" } ] } ] }, { "uniprot_canonical_ac": "Q9Z131-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "14", "chr_pos": "31097053", "evidence": [ { "id": "rs30326179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30326179" } ] } ] } ], "record_id": "Q9Z131-1" }, { "uniprot_canonical_ac": "Q8VE42-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 27111.0, "gene_names": "Ankrd49;Ankrd49;Fgif;Gbif", "protein_name": "Ankyrin repeat domain-containing protein 49", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ], "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": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VE42-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VE42", "url": "https://www.uniprot.org/uniprotkb/Q8VE42" } ] } ] } ], "record_id": "Q8VE42-1" }, { "uniprot_canonical_ac": "Q8BK64-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 38117.0, "gene_names": "Ahsa1;Ahsa1;p38", "protein_name": "Activator of 90 kDa heat shock protein ATPase homolog 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" }, { "name": "maintenance of unfolded protein", "id": "GO:0036506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036506", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BK64-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ] } ] }, { "uniprot_canonical_ac": "Q8BK64-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Tyr223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BK64", "url": "https://www.uniprot.org/uniprotkb/Q8BK64" } ] } ] } ], "record_id": "Q8BK64-1" }, { "uniprot_canonical_ac": "Q8BZQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 837, "chemical_mass": 95307.0, "gene_names": "Anapc2;9230107K09Rik;Anapc2;Apc2;Emi4;Imi4;mKIAA1406", "protein_name": "Anaphase-promoting complex subunit 2", "disease": [ { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1405", "name": "primary angle-closure glaucoma", "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "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:5386", "name": "lung adenoma", "description": "A lung benign neoplasm that derives_from glandular epithelial cells.", "url": "https://disease-ontology.org/term/DOID:5386", "evidence": [ { "id": "5386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5386" } ], "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 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "anaphase-promoting complex", "id": "GO:0005680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005680", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "anaphase-promoting complex-dependent catabolic process", "id": "GO:0031145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031145", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "metaphase/anaphase transition of mitotic cell cycle", "id": "GO:0007091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007091", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" }, { "name": "protein branched polyubiquitination", "id": "GO:0141198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141198", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 210, "start_aa": "Thr", "end_pos": 210, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr210", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Thr675", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 675, "start_aa": "Thr", "end_pos": 675, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr675", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ser485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Ser549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Ser712", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BZQ7-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Tyr825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BZQ7" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8BZQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZQ7" } ] } ] } ], "record_id": "Q8BZQ7-1" }, { "uniprot_canonical_ac": "O54826-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1068, "chemical_mass": 113029.0, "gene_names": "Mllt10;Af10;B130021D15Rik;D630001B22Rik;Mllt10;mKIAA4140", "protein_name": "Protein AF-10", "disease": [ { "disease_id": "DOID:8864", "name": "acute monocytic leukemia", "description": "A monocytic leukemia where the majority of monocytic cells are promonocytes.", "url": "https://disease-ontology.org/term/DOID:8864", "evidence": [ { "id": "8864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8864" } ], "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 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "nucleosome binding", "id": "GO:0031491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031491", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "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": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "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": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54826-1", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Thr1017", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1017, "start_aa": "Thr", "end_pos": 1017, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1017", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Thr266", "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": 266, "start_aa": "Thr", "end_pos": 266, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr266", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "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": 269, "start_aa": "Ser", "end_pos": 269, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser269", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ser271", "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": 271, "start_aa": "Ser", "end_pos": 271, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser271", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "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": 340, "start_aa": "Thr", "end_pos": 340, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr340", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "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": 343, "start_aa": "Ser", "end_pos": 343, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser343", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Thr356", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 356, "start_aa": "Thr", "end_pos": 356, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr356", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "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": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "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": 503, "start_aa": "Ser", "end_pos": 503, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser503", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54826" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "O54826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Thr619", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 619, "start_aa": "Thr", "end_pos": 619, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr619", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Ser436", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ser686", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Ser688", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Ser691", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54826", "url": "https://www.uniprot.org/uniprotkb/O54826" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54826" } ] } ] }, { "uniprot_canonical_ac": "O54826-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "2", "chr_pos": "18167227", "evidence": [ { "id": "rs222352592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222352592" } ] } ] } ], "record_id": "O54826-1" }, { "uniprot_canonical_ac": "Q8R3W7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3W7", "url": "https://www.uniprot.org/uniprotkb/Q8R3W7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 165, "chemical_mass": 19081.0, "gene_names": "Agr3;Agr3;BCMP11;E030025L21Rik;Gm888", "protein_name": "Anterior gradient protein 3", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8R3W7", "url": "https://www.uniprot.org/uniprotkb/Q8R3W7" } ], "pmid": "" } ], "molecular_function": [ { "name": "dystroglycan binding", "id": "GO:0002162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002162", "evidence": [ { "database": "UniProtKB", "id": "Q8R3W7", "url": "https://www.uniprot.org/uniprotkb/Q8R3W7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R3W7-1" }, { "uniprot_canonical_ac": "P47739-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 453, "chemical_mass": 50481.0, "gene_names": "Aldh3a1;Ahd-4;Ahd4;Aldh3a1;Aldh3;Aldh4;Aldh", "protein_name": "Aldehyde dehydrogenase, dimeric NADP-preferring", "disease": [ { "disease_id": "DOID:14501", "name": "Sjogren-Larsson syndrome", "description": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:14501", "evidence": [ { "id": "14501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14501" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening 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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "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": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "id": "GO:0016620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016620", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "3-chloroallyl aldehyde dehydrogenase activity", "id": "GO:0004028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004028", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "benzaldehyde dehydrogenase (NAD+) activity", "id": "GO:0018479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018479", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "P47739", "url": "https://www.uniprot.org/uniprotkb/P47739" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P47739-1" }, { "uniprot_canonical_ac": "B2RUJ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 842, "chemical_mass": 92909.0, "gene_names": "Apba1;6430513E09Rik;Apba1;Lin-10;Mint1;Mint;Urop11;X11alpha;X11;mLin-10", "protein_name": "Amyloid-beta A4 precursor protein-binding family A member 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "glutamate secretion", "id": "GO:0014047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014047", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid secretion", "id": "GO:0014051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014051", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Ser317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Thr375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Ser406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" } ] } ] }, { "uniprot_canonical_ac": "B2RUJ5-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RUJ5", "url": "https://www.uniprot.org/uniprotkb/B2RUJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RUJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RUJ5" } ] } ] } ], "record_id": "B2RUJ5-1" }, { "uniprot_canonical_ac": "D3YVF0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 745, "chemical_mass": 79397.0, "gene_names": "Akap5;3526401B18Rik;AKAP 150;AKAP-5;AKAP150;Akap150;Akap5;Gm258;P150", "protein_name": "A-kinase anchor protein 5", "disease": [ { "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 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase activity", "id": "GO:0007194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007194", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "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": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase activity", "id": "GO:0045762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045762", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import across plasma membrane", "id": "GO:1905665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905665", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "negative regulation of monoatomic ion transport", "id": "GO:0043271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043271", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "calcineurin-NFAT signaling cascade", "id": "GO:0033173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033173", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "clustering of voltage-gated potassium channels", "id": "GO:0045163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045163", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic neurotransmitter receptor cycle", "id": "GO:0099630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099630", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "positive regulation of endosome to plasma membrane protein transport", "id": "GO:1905751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905751", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "amylase secretion", "id": "GO:0036394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036394", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor internalization", "id": "GO:0099149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099149", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein-containing complex disassembly", "id": "GO:0032984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032984", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "clustering of voltage-gated calcium channels", "id": "GO:0070073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070073", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome", "id": "GO:0098837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098837", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome membrane", "id": "GO:0098944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098944", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-2 adrenergic receptor binding", "id": "GO:0031698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031698", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein kinase A regulatory subunit binding", "id": "GO:0034237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034237", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "protein phosphatase 2B binding", "id": "GO:0030346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030346", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "glutamate receptor binding", "id": "GO:0035254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035254", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3YVF0-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "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": 242, "start_aa": "Ser", "end_pos": 242, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser242", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "D3YVF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/D3YVF0" } ] } ] }, { "uniprot_canonical_ac": "D3YVF0-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "D3YVF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YVF0" } ] } ] }, { "uniprot_canonical_ac": "D3YVF0-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YVF0", "url": "https://www.uniprot.org/uniprotkb/D3YVF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "D3YVF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YVF0" } ] } ] } ], "record_id": "D3YVF0-1" }, { "uniprot_canonical_ac": "Q8BGT5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 522, "chemical_mass": 57944.0, "gene_names": "Gpt2;4631422C05Rik;ALT2;Aat2;Gpt2", "protein_name": "Alanine aminotransferase 2", "disease": [ { "disease_id": "DOID:0070542", "name": "neurodevelopmental disorder with spastic paraplegia and microcephaly", "description": "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.", "url": "https://disease-ontology.org/term/DOID:0070542", "evidence": [ { "id": "0070542", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070542" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" } ], "biological_process": [ { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" }, { "name": "L-alanine metabolic process", "id": "GO:0042851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042851", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" }, { "name": "L-alanine catabolic process", "id": "GO:0042853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042853", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" }, { "name": "L-alanine:2-oxoglutarate aminotransferase activity", "id": "GO:0004021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004021", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT5", "url": "https://www.uniprot.org/uniprotkb/Q8BGT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGT5-1" }, { "uniprot_canonical_ac": "P0CB42-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 389, "chemical_mass": 43746.0, "gene_names": "Alkbh1;2700073G19Rik;Abh;Alkbh1;Alkbh;alkB;hABH", "protein_name": "Nucleic acid dioxygenase ALKBH1", "disease": [], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "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": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "tRNA wobble cytosine modification", "id": "GO:0002101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002101", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "regulation of translational elongation", "id": "GO:0006448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006448", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "RNA repair", "id": "GO:0042245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042245", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "regulation of mitochondrial translation", "id": "GO:0070129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070129", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "regulation of translational initiation by tRNA modification", "id": "GO:1990983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990983", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "oxidative RNA demethylation", "id": "GO:0035513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035513", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "positive regulation of gene expression, epigenetic", "id": "GO:0141137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141137", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "class I DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0140078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140078", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "2-oxoglutarate-dependent dioxygenase activity", "id": "GO:0016706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016706", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "tRNA demethylase activity", "id": "GO:1990984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990984", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "oxidative RNA demethylase activity", "id": "GO:0035515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035515", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "broad specificity oxidative DNA demethylase activity", "id": "GO:0035516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035516", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "DNA N6-methyladenine demethylase activity", "id": "GO:0141131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141131", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "2-oxoglutarate-dependent tRNA 5-methylcytidine formyltransferase activity", "id": "GO:0160290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160290", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" }, { "name": "dioxygenase activity", "id": "GO:0051213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0CB42-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asp233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P0CB42", "url": "https://www.uniprot.org/uniprotkb/P0CB42" }, { "database": "PubMed", "id": "27027282", "url": "https://glygen.org/publication/PubMed/27027282" } ] } ] } ], "record_id": "P0CB42-1" }, { "uniprot_canonical_ac": "E9Q3E1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 52983.0, "gene_names": "Aldh3b2;Aldh3b2;C130048D07Rik", "protein_name": "Aldehyde dehydrogenase family 3 member B2", "disease": [ { "disease_id": "DOID:14501", "name": "Sjogren-Larsson syndrome", "description": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:14501", "evidence": [ { "id": "14501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14501" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase [NAD(P)+] activity", "id": "GO:0004030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004030", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "long-chain fatty aldehyde dehydrogenase (NAD+) activity", "id": "GO:0050061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050061", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" }, { "name": "medium-chain fatty aldehyde dehydrogenase (NAD+) activity", "id": "GO:0052814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052814", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q3E1-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Trp462", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduces lipid droplet localization.", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" }, { "database": "PubMed", "id": "25286108", "url": "https://glygen.org/publication/PubMed/25286108" } ] } ] }, { "uniprot_canonical_ac": "E9Q3E1-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Trp469", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduces lipid droplet localization.", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" }, { "database": "PubMed", "id": "25286108", "url": "https://glygen.org/publication/PubMed/25286108" } ] } ] }, { "uniprot_canonical_ac": "E9Q3E1-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Cys476", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces lipid droplet localization.", "evidence": [ { "database": "UniProtKB", "id": "E9Q3E1", "url": "https://www.uniprot.org/uniprotkb/E9Q3E1" }, { "database": "PubMed", "id": "25286108", "url": "https://glygen.org/publication/PubMed/25286108" } ] } ] } ], "record_id": "E9Q3E1-1" }, { "uniprot_canonical_ac": "Q3UUF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 508, "chemical_mass": 55417.0, "gene_names": "Ankrd34b;6430502M16Rik;Ankrd34b;DP58;Dp58", "protein_name": "Ankyrin repeat domain-containing protein 34B", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UUF8-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 182, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr182", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "13", "chr_pos": "92575314", "evidence": [ { "id": "rs3404498927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404498927" } ] } ] }, { "uniprot_canonical_ac": "Q3UUF8-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UUF8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UUF8" } ] } ] }, { "uniprot_canonical_ac": "Q3UUF8-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Thr269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UUF8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UUF8" } ] } ] }, { "uniprot_canonical_ac": "Q3UUF8-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UUF8", "url": "https://www.uniprot.org/uniprotkb/Q3UUF8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UUF8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UUF8" } ] } ] }, { "uniprot_canonical_ac": "Q3UUF8-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "13", "chr_pos": "92575755", "evidence": [ { "id": "rs258811383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258811383" } ] } ] } ], "record_id": "Q3UUF8-1" }, { "uniprot_canonical_ac": "P07724-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 608, "chemical_mass": 68693.0, "gene_names": "Alb;Alb-1;Alb1;Alb;BCL001;BCL002;BPL001", "protein_name": "Albumin", "disease": [ { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "disease_id": "DOID:0050782", "name": "Zollinger-Ellison syndrome", "description": "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.", "url": "https://disease-ontology.org/term/DOID:0050782", "evidence": [ { "id": "0050782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050782" } ], "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: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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:112", "name": "esophageal varix", "description": "", "url": "https://disease-ontology.org/term/DOID:112", "evidence": [ { "id": "112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:112" } ], "weight": 0.0 }, { "disease_id": "DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11801", "name": "protein-energy malnutrition", "description": "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.", "url": "https://disease-ontology.org/term/DOID:11801", "evidence": [ { "id": "11801", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11801" } ], "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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:13576", "name": "twin-to-twin transfusion syndrome", "description": "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.", "url": "https://disease-ontology.org/term/DOID:13576", "evidence": [ { "id": "13576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13576" } ], "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:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "weight": 0.0 }, { "disease_id": "DOID:14089", "name": "root caries", "description": "", "url": "https://disease-ontology.org/term/DOID:14089", "evidence": [ { "id": "14089", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14089" } ], "weight": 0.0 }, { "disease_id": "DOID:14525", "name": "Reye syndrome", "description": "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.", "url": "https://disease-ontology.org/term/DOID:14525", "evidence": [ { "id": "14525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14525" } ], "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:2855", "name": "hyperthyroxinemia", "description": "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.", "url": "https://disease-ontology.org/term/DOID:2855", "evidence": [ { "id": "2855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2855" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "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:620", "name": "blood protein disease", "description": "", "url": "https://disease-ontology.org/term/DOID:620", "evidence": [ { "id": "620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:620" } ], "weight": 0.0 }, { "disease_id": "DOID:6271", "name": "gastric cardia adenocarcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6271", "evidence": [ { "id": "6271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6271" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "modified amino acid binding", "id": "GO:0072341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072341", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "enterobactin binding", "id": "GO:1903981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903981", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "exogenous protein binding", "id": "GO:0140272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140272", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial depolarization", "id": "GO:0051902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051902", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0046010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046010", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "cellular response to calcium ion starvation", "id": "GO:0072732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072732", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" }, { "name": "bilirubin transport", "id": "GO:0015723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015723", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P07724-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P07724", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P07724", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Thr444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Ser513", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] }, { "uniprot_canonical_ac": "P07724-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07724", "url": "https://www.uniprot.org/uniprotkb/P07724" } ] } ] } ], "record_id": "P07724-1" }, { "uniprot_canonical_ac": "Q8BLB8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLB8", "url": "https://www.uniprot.org/uniprotkb/Q8BLB8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 534, "chemical_mass": 58171.0, "gene_names": "Ankrd34c;Ankrd34c;B230218L05Rik;Gm771", "protein_name": "Ankyrin repeat domain-containing protein 34C", "disease": [], "cellular_component": [ { "name": "pi-body", "id": "GO:0071546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071546", "evidence": [ { "database": "UniProtKB", "id": "Q8BLB8", "url": "https://www.uniprot.org/uniprotkb/Q8BLB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BLB8-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Thr324", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Thr", "end_pos": 324, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr324", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BLB8-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BLB8", "url": "https://www.uniprot.org/uniprotkb/Q8BLB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BLB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLB8" } ] } ] }, { "uniprot_canonical_ac": "Q8BLB8-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BLB8", "url": "https://www.uniprot.org/uniprotkb/Q8BLB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BLB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLB8" } ] } ] } ], "record_id": "Q8BLB8-1" }, { "uniprot_canonical_ac": "Q8CHT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 562, "chemical_mass": 61841.0, "gene_names": "Aldh4a1;A930035F14Rik;Ahd-1;Ahd1;Aldh4a1;Aldh4;Aldh5a1;E330022C09;P5cdhl;P5cdhs;P5cdh;P5cd;Ssdh1", "protein_name": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0080543", "name": "hyperprolinemia type 2", "description": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080543", "evidence": [ { "id": "0080543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080543" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" }, { "name": "L-glutamate gamma-semialdehyde dehydrogenase activity", "id": "GO:0003842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003842", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" } ], "biological_process": [ { "name": "L-proline catabolic process to L-glutamate", "id": "GO:0010133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010133", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHT0-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHT0", "url": "https://www.uniprot.org/uniprotkb/Q8CHT0" } ] } ] } ], "record_id": "Q8CHT0-1" }, { "uniprot_canonical_ac": "Q8CJG0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 860, "chemical_mass": 97304.0, "gene_names": "Ago2;1110029L17Rik;2310051F07Rik;Ago2;Eif2c2;Gerp95;Gm10365;Kiaa4215;mKIAA4215", "protein_name": "Protein argonaute-2", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RISC complex", "id": "GO:0016442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016442", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RISC-loading complex", "id": "GO:0070578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070578", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "pi-body", "id": "GO:0071546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071546", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "chromatoid body", "id": "GO:0033391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033391", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" } ], "biological_process": [ { "name": "RISC complex assembly", "id": "GO:0070922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070922", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "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": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "negative regulation of amyloid precursor protein biosynthetic process", "id": "GO:0042985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042985", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of trophoblast cell migration", "id": "GO:1901165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901165", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "miRNA metabolic process", "id": "GO:0010586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010586", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "pre-miRNA processing", "id": "GO:0031054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031054", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "miRNA processing", "id": "GO:0035196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035196", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by inhibition of translation", "id": "GO:0035278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035278", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0035279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035279", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "siRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0090625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090625", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "positive regulation of post-transcriptional gene silencing by RNA", "id": "GO:1900370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900370", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RNA stabilization", "id": "GO:0043489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043489", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RISC complex binding", "id": "GO:1905172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905172", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RNA 7-methylguanosine cap binding", "id": "GO:0000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000340", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "siRNA binding", "id": "GO:0035197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035197", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "endoribonuclease activity, cleaving siRNA-paired mRNA", "id": "GO:0070551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070551", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "endoribonuclease activity, cleaving miRNA-paired mRNA", "id": "GO:0090624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090624", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "mRNA cap binding", "id": "GO:0098808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098808", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Asn360", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G54010QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLTDNQTSTMIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 360, "start_aa": "Asn", "end_pos": 360, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn360", "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": "Q8CJG0-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Ser829", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Ser832", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Ser835", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJG0", "url": "https://www.uniprot.org/uniprotkb/Q8CJG0" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Thr362", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "15", "chr_pos": "72996043", "evidence": [ { "id": "rs3389363387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363387" } ] } ] }, { "uniprot_canonical_ac": "Q8CJG0-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "15", "chr_pos": "72995841", "evidence": [ { "id": "rs3389371579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371579" } ] } ] } ], "record_id": "Q8CJG0-1" }, { "uniprot_canonical_ac": "Q8K2H6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 185, "chemical_mass": 21266.0, "gene_names": "Anapc10;1500026N15Rik;A830003M23Rik;APC10;Anapc10;Apc10", "protein_name": "Anaphase-promoting complex subunit 10", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" }, { "name": "anaphase-promoting complex", "id": "GO:0005680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005680", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" }, { "name": "anaphase-promoting complex-dependent catabolic process", "id": "GO:0031145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031145", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" }, { "name": "protein branched polyubiquitination", "id": "GO:0141198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141198", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H6", "url": "https://www.uniprot.org/uniprotkb/Q8K2H6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K2H6-1" }, { "uniprot_canonical_ac": "Q91Y97-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 364, "chemical_mass": 39507.0, "gene_names": "Aldob;Aldo-2;Aldo2;Aldob", "protein_name": "Fructose-bisphosphate aldolase B", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "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": "DOID:9869", "name": "hereditary fructose intolerance syndrome", "description": "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.", "url": "https://disease-ontology.org/term/DOID:9869", "evidence": [ { "id": "9869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9869" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose-bisphosphate aldolase activity", "id": "GO:0004332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004332", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose-1-phosphate aldolase activity", "id": "GO:0061609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061609", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose binding", "id": "GO:0070061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070061", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum membrane", "id": "GO:0030868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030868", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum membrane", "id": "GO:0030867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030867", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" } ], "biological_process": [ { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate", "id": "GO:0061624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061624", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose metabolic process", "id": "GO:0006000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006000", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex assembly", "id": "GO:0070072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070072", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "glycolytic process through fructose-6-phosphate", "id": "GO:0061615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061615", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "glycolytic process through fructose-1-phosphate", "id": "GO:0061625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061625", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "fructose catabolic process", "id": "GO:0006001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006001", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Thr119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91Y97", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" }, { "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": "Q91Y97", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Thr39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" }, { "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": "Q91Y97", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Y97", "url": "https://www.uniprot.org/uniprotkb/Q91Y97" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Glu100", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49543682", "evidence": [ { "id": "rs3388672679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388672679" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49542813", "evidence": [ { "id": "rs3388684972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684972" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ile154", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49541210", "evidence": [ { "id": "rs3388672690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388672690" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Glu188", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49539775", "evidence": [ { "id": "rs3542269196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542269196" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49539766", "evidence": [ { "id": "rs3388679360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679360" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Arg22", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49544845", "evidence": [ { "id": "rs3542226753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542226753" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Met233", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49538820", "evidence": [ { "id": "rs3388663712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663712" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ala25", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49544835", "evidence": [ { "id": "rs3394267787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394267787" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Lys28", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49544827", "evidence": [ { "id": "rs3394269693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394269693" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ala313", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49538190", "evidence": [ { "id": "rs3394179459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394179459" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Gly315", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49538184", "evidence": [ { "id": "rs3388682311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388682311" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Asn320", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49538169", "evidence": [ { "id": "rs3388685529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685529" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Asn55", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49543818", "evidence": [ { "id": "rs3388684171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684171" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Gln58", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49543809", "evidence": [ { "id": "rs3393965442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393965442" } ] } ] }, { "uniprot_canonical_ac": "Q91Y97-1", "start_pos": "81", "end_pos": "81", "site_lbl": "His81", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "49543740", "evidence": [ { "id": "rs13463570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13463570" } ] } ] } ], "record_id": "Q91Y97-1" }, { "uniprot_canonical_ac": "Q91ZK0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 452, "chemical_mass": 49548.0, "gene_names": "Tfap2d;Tcfap2d;Tfap2d", "protein_name": "Transcription factor AP-2-delta", "disease": [ { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "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": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "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": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "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": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" }, { "name": "inferior colliculus development", "id": "GO:0061379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061379", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZK0-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91ZK0", "url": "https://www.uniprot.org/uniprotkb/Q91ZK0" } ] } ] } ], "record_id": "Q91ZK0-1" }, { "uniprot_canonical_ac": "Q99JB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 458, "chemical_mass": 48696.0, "gene_names": "Amn;Amn", "protein_name": "Protein amnionless", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:13382", "name": "megaloblastic anemia", "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.", "url": "https://disease-ontology.org/term/DOID:13382", "evidence": [ { "id": "13382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13382" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "biological_process": [ { "name": "renal protein absorption", "id": "GO:0097017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097017", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "cobalamin metabolic process", "id": "GO:0009235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009235", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "cobalamin transport", "id": "GO:0015889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015889", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q99JB7", "url": "https://www.uniprot.org/uniprotkb/Q99JB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JB7-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asn27", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 27, "start_aa": "Asn", "end_pos": 27, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn27", "evidence": [ { "id": "Q99JB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JB7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JB7-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Asn355", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 355, "start_aa": "Asn", "end_pos": 355, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn355", "evidence": [ { "id": "Q99JB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JB7#ptm_processing" } ] } ] } ], "record_id": "Q99JB7-1" }, { "uniprot_canonical_ac": "Q9DBR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 687, "chemical_mass": 76294.0, "gene_names": "Akap8;1200016A02Rik;AKAP-8;AKAP95;Akap8;Akap95", "protein_name": "A-kinase anchor protein 8", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "protein kinase A regulatory subunit binding", "id": "GO:0034237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034237", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "female pronucleus", "id": "GO:0001939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001939", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "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": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" }, { "name": "cell cycle G2/M phase transition", "id": "GO:0044839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044839", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Asn545", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GEDPFVNETADLETEGDENVGEEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "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": "Q9DBR0-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9DBR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Thr552", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR0-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprotkb/Q9DBR0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR0" } ] } ] } ], "record_id": "Q9DBR0-1" }, { "uniprot_canonical_ac": "Q9QYB5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 706, "chemical_mass": 78777.0, "gene_names": "Add3;Add3;Addl", "protein_name": "Gamma-adducin", "disease": [ { "disease_id": "DOID:0081361", "name": "spastic quadriplegic cerebral palsy 3", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0081361", "evidence": [ { "id": "0081361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081361" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cytoskeleton organization", "id": "GO:0051495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051495", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" } ], "cellular_component": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Asn40", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G93422ZO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NMSPDLRQDFNMMEQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 40, "start_aa": "Asn", "end_pos": 40, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn40", "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": "Q9QYB5-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Ser583", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Ser585", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ser590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ser673", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "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": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Ser679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Ser681", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "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": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB5" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Asn357", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of cleavage by asparagine endopeptidase (AEP).", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "33992672", "url": "https://glygen.org/publication/PubMed/33992672" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asn450", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on cleavage by asparagine endopeptidase (AEP).", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "33992672", "url": "https://glygen.org/publication/PubMed/33992672" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB5-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Asn457", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on cleavage by asparagine endopeptidase (AEP).", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB5", "url": "https://www.uniprot.org/uniprotkb/Q9QYB5" }, { "database": "PubMed", "id": "33992672", "url": "https://glygen.org/publication/PubMed/33992672" } ] } ] } ], "record_id": "Q9QYB5-1" }, { "uniprot_canonical_ac": "Q9QYB8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 725, "chemical_mass": 80642.0, "gene_names": "Add2;2900072M03Rik;Add2;add97", "protein_name": "Beta-adducin", "disease": [ { "disease_id": "DOID:0081361", "name": "spastic quadriplegic cerebral palsy 3", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0081361", "evidence": [ { "id": "0081361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081361" } ], "weight": 0.0 }, { "disease_id": "DOID:0110916", "name": "hereditary spherocytosis type 1", "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.", "url": "https://disease-ontology.org/term/DOID:0110916", "evidence": [ { "id": "0110916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110916" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "F-actin capping protein complex", "id": "GO:0008290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008290", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Thr403", "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": 403, "start_aa": "Thr", "end_pos": 403, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr403", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9QYB8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Tyr489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "IntAct", "id": "Q9QYB8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9QYB8*" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" }, { "database": "PubMed", "id": "16765915", "url": "https://glygen.org/publication/PubMed/16765915" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Ser530", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "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": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Thr533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Ser535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "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": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Thr55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Thr561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ser594", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Ser602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Ser606", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Thr612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Ser614", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Ser618", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ser620", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Thr674", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Ser688", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Ser696", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ser700", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB8-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Ser712", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB8", "url": "https://www.uniprot.org/uniprotkb/Q9QYB8" } ] } ] } ], "record_id": "Q9QYB8-1" }, { "uniprot_canonical_ac": "Q9JME5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1082, "chemical_mass": 119193.0, "gene_names": "Ap3b2;Ap3b2;Naptb;[b]-NAP;beta-NAP;beta3B", "protein_name": "AP-3 complex subunit beta-2", "disease": [ { "disease_id": "DOID:0080448", "name": "developmental and epileptic encephalopathy 48", "description": "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.", "url": "https://disease-ontology.org/term/DOID:0080448", "evidence": [ { "id": "0080448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080448" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "AP-3 adaptor complex", "id": "GO:0030123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030123", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "anterograde synaptic vesicle transport", "id": "GO:0048490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048490", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "synaptic vesicle membrane organization", "id": "GO:0048499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048499", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "zinc ion import into synaptic vesicle", "id": "GO:0099180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099180", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "synaptic vesicle coating", "id": "GO:0016183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016183", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" }, { "name": "clathrin-coated vesicle cargo loading, AP-3-mediated", "id": "GO:0035654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035654", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JME5-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Thr688", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 688, "start_aa": "Thr", "end_pos": 688, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr688", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JME5-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NASDLFPAVVKNVACK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "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": "Q9JME5-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JME5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JME5" } ] } ] }, { "uniprot_canonical_ac": "Q9JME5-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JME5", "url": "https://www.uniprot.org/uniprotkb/Q9JME5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JME5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JME5" } ] } ] }, { "uniprot_canonical_ac": "Q9JME5-1", "start_pos": "1016", "end_pos": "1016", "site_lbl": "Thr1016", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TAT->NAT).", "chr_id": "7", "chr_pos": "81110727", "evidence": [ { "id": "rs3388919345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919345" } ] } ] } ], "record_id": "Q9JME5-1" }, { "uniprot_canonical_ac": "Q9R1E0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 652, "chemical_mass": 69518.0, "gene_names": "Foxo1;Afxh;FKHR;Fkhr1;Fkhr;Foxo1a;Foxo1", "protein_name": "Forkhead box protein O1", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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:4051", "name": "alveolar rhabdomyosarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4051", "evidence": [ { "id": "4051", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4051" } ], "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "transcription factor binding", "id": "GO:0008134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "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": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "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": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "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": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell apoptotic process", "id": "GO:0034393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034393", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "cellular response to hyperoxia", "id": "GO:0071455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071455", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "response to fluoride", "id": "GO:1902617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902617", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of gluconeogenesis", "id": "GO:0006111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006111", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "negative regulation of stress-activated MAPK cascade", "id": "GO:0032873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032873", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of neural precursor cell proliferation", "id": "GO:2000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000177", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" }, { "name": "regulation of transcription initiation by RNA polymerase II", "id": "GO:0060260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060260", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Thr314", "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": 314, "start_aa": "Thr", "end_pos": 314, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr314", "evidence": [ { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "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": 547, "start_aa": "Ser", "end_pos": 547, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser547", "evidence": [ { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Thr644", "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": 644, "start_aa": "Thr", "end_pos": 644, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr644", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Thr645", "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": 645, "start_aa": "Thr", "end_pos": 645, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr645", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q9R1E0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9R1E0" }, { "id": "24730386", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24730386" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "38191912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38191912" }, { "id": "25944660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25944660" }, { "id": "28052965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28052965" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "25142777", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25142777" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32783937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32783937" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Thr646", "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": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q9R1E0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9R1E0" }, { "id": "24730386", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24730386" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "38191912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38191912" }, { "id": "25944660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25944660" }, { "id": "28052965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28052965" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "25142777", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25142777" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32783937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32783937" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "25944660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25944660" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "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": 651, "start_aa": "Ser", "end_pos": 651, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser651", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q9R1E0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9R1E0" }, { "id": "24730386", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24730386" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "38191912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38191912" }, { "id": "25944660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25944660" }, { "id": "28052965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28052965" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "25142777", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25142777" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32783937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32783937" }, { "id": "Q9R1E0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R1E0" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ser209", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "33229443", "url": "https://glygen.org/publication/PubMed/33229443" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WVC6-1", "kinase_gene_name": "Sgk1", "evidence": [ { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "19965929", "url": "https://glygen.org/publication/PubMed/19965929" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "24466179", "url": "https://glygen.org/publication/PubMed/24466179" }, { "database": "PubMed", "id": "28267764", "url": "https://glygen.org/publication/PubMed/28267764" }, { "database": "PubMed", "id": "30174230", "url": "https://glygen.org/publication/PubMed/30174230" }, { "database": "PubMed", "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208" }, { "database": "PubMed", "id": "19965929", "url": "https://glygen.org/publication/PubMed/19965929" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreases insulin-induced phosphorylation by approximately 30%. Nuclear location but transcriptional activity decreased by about 50%. Abolishes the SIRT1 deacetylase binding and increases acetylation; when associated with A-253; A-316; A-462 and A-463. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with Q-219; Q-242; Q-245; Q-259; Q-262; Q-271 and Q-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with R-219; R-242; R-245; R-259; R-262; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" }, { "database": "PubMed", "id": "16917544", "url": "https://glygen.org/publication/PubMed/16917544" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "22532369", "url": "https://glygen.org/publication/PubMed/22532369" }, { "database": "PubMed", "id": "23705021", "url": "https://glygen.org/publication/PubMed/23705021" }, { "database": "PubMed", "id": "24116102", "url": "https://glygen.org/publication/PubMed/24116102" }, { "database": "PubMed", "id": "28270438", "url": "https://glygen.org/publication/PubMed/28270438" }, { "database": "PubMed", "id": "28644433", "url": "https://glygen.org/publication/PubMed/28644433" }, { "database": "PubMed", "id": "30014903", "url": "https://glygen.org/publication/PubMed/30014903" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "18388859", "url": "https://glygen.org/publication/PubMed/18388859" }, { "database": "PubMed", "id": "19965929", "url": "https://glygen.org/publication/PubMed/19965929" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" }, { "database": "PubMed", "id": "27827363", "url": "https://glygen.org/publication/PubMed/27827363" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes insulin-induced phosphorylation when associated with A-463. Nuclear location but transcriptional activity decreased by about 50%. Abolishes the SIRT1 deacetylase binding and increases acetylation; when associated with A-24; A-316; A-462 and A-463.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "16917544", "url": "https://glygen.org/publication/PubMed/16917544" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "33408127", "url": "https://glygen.org/publication/PubMed/33408127" }, { "database": "PubMed", "id": "34208360", "url": "https://glygen.org/publication/PubMed/34208360" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-295; A-326; A-380; A-391; A-399; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-326; A-380; A-391; A-399; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases insulin-induced phosphorylation by approximately 30%. Abolishes the SIRT1 deacetylase binding and increases acetylation; when associated with A-24; A-253; A-462 and A-463.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "10347145", "url": "https://glygen.org/publication/PubMed/10347145" }, { "database": "PubMed", "id": "16917544", "url": "https://glygen.org/publication/PubMed/16917544" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" }, { "database": "PubMed", "id": "30002415", "url": "https://glygen.org/publication/PubMed/30002415" }, { "database": "PubMed", "id": "35966593", "url": "https://glygen.org/publication/PubMed/35966593" }, { "database": "PubMed", "id": "19965929", "url": "https://glygen.org/publication/PubMed/19965929" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-380; A-391; A-399; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1E0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1E0" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Arg147", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little change in levels of methylation; when associated with K-29; K-154; K-311 and K-313.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Arg154", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little change in levels of methylation; when associated with K-29; K-147; K-311 and K-313.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Trp206", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Loss of interaction with CEBPA.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "17627282", "url": "https://glygen.org/publication/PubMed/17627282" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "212", "end_pos": "212", "site_lbl": "His212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Loss of interaction with CEBPA.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "17627282", "url": "https://glygen.org/publication/PubMed/17627282" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Lys219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-242; Q-245; Q-259; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-242; Q-245; Q-259; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Translocates to the cytoplasm after insulin-stimulation. No change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-242; R-245; R-259; R-262; R-271 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-242; R-245; R-259; R-262; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Lys242", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin. Decreased DNA-binding by about half. Enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-245 or Q-245 and either A-262 or Q-262. either A-262 or Q-262. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-245; Q-259; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-245; Q-259; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin. Decreased DNA-binding by about half. Enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-245 or Q-245 and either A-262 or Q-262. either A-262 or Q-262. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-245; Q-259; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-245; Q-259; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced acetylation and transcriptional activity increased by about 1.5 fold. Completely abolishes acetylation, increases interaction with CEBPA and transcriptional activity increased by about 3-fold; when associated with R-245 and R-262. Transcriptional activity not inhibited by FCOR; when associated with R-245; R-259; R-262; R-271 and R-291. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-245; R-259; R-262; R-271 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-245; R-259; R-262; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Lys245", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Mimics acetylation. Decreased DNA-binding by about half. Enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-242 or Q-242 and either A-262 or Q-262. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-259; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-259; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Decreased DNA-binding by about half. Enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-242 or Q-242 and either A-262 or Q-262. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-259; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-259; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced acetylation and transcriptional activity increased by about 1.5-fold. Completely abolishes acetylation, increases interaction with CEBPA and transcriptional activity increased by about 3-fold; when associated with R-242 and R-262. Transcriptional activity not inhibited by FCOR; when associated with R-242; R-259; R-262; R-271 and R-291. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-242; R-259; R-262; R-271 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-242; R-259; R-262; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Arg248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Some decrease in levels of methylation. Greatly decreased methylation levels; when associated with K-250.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Arg249", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "No change in methylation levels.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Arg250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Some decrease in levels of methylation. Greatly decreased methylation levels; when associated with K-248.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Lys259", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-245; Q-262; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-245; Q-262; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Transcriptional activity not inhibited by FCOR; when associated with R-242; R-245; R-262; R-271 and R-291. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-242; R-245; R-262; R-271 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-242; R-245; R-262; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Lys262", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Mimics acetylation. Decreased DNA-binding by about half and enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-242 or Q-242 and either A-245 or Q-245. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-245; Q-259; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-245; Q-259; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Decreased DNA-binding by about half and enhanced phosphorylation by PKB/AKT1, no effect on interaction with CEBPA; when associated with either A-242 or Q-242 and either A-245 or Q-245. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-245; Q-259; Q-271 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-245; Q-259; Q-271 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Significant reduction in acetylation and transcriptional activity increased by about 2.0 fold. Completely abolishes acetylation, increases interaction with CEBPA and transcriptional activity increased by about 3-fold; when associated with R-242 and R-245. Transcriptional activity not inhibited by FCOR; when associated with R-242; R-245; R-259; R-271 and R-291. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-242; R-245; R-259; R-271 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-242; R-245; R-259; R-271 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "15220471", "url": "https://glygen.org/publication/PubMed/15220471" }, { "database": "PubMed", "id": "16076959", "url": "https://glygen.org/publication/PubMed/16076959" }, { "database": "PubMed", "id": "17090532", "url": "https://glygen.org/publication/PubMed/17090532" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Lys271", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-245; Q-259; Q-262 and Q-291. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24; Q-219; Q-242; Q-245; Q-259; Q-262 and Q-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Transcriptional activity not inhibited by FCOR; when associated with R-242; R-245; R-259; R-262 and R-291. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-242; R-245; R-259; R-262 and R-291. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-242; R-245; R-259; R-262 and R-291.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Lys291", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Cytoplasmic location in absence or presence of insulin, no change on the inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with Q-219; Q-242; Q-245; Q-259; Q-262 and Q-271. Increased insulin-induced phosphorylation at Ser-253 and binding of 14-3-3 proteins; when associated with A-24: Q-219; Q-242; Q-245; Q-259; Q-262 and Q-271.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Transcriptional activity not inhibited by FCOR; when associated with R-242; R-245; R-259; R-262 and R-271. Predominantly nuclear and translocates to the cytoplasm on insulin-stimulation. No inhibitory effect of oxidative stress on insulin-induced phosphorylations, but no inhibition of these phosphorylations by resveratrol; when associated with R-219; R-242; R-245; R-259; R-262 and R-271. Increased binding of 14-3-3 proteins even with decreased insulin-induced phosphorylation at Ser-253; when associated with A-24; R-219; R-242; R-245; R-259; R-262 and R-271.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "22510882", "url": "https://glygen.org/publication/PubMed/22510882" }, { "database": "PubMed", "id": "20519497", "url": "https://glygen.org/publication/PubMed/20519497" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Arg29", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little change in levels of methylation; when associated with K-147; K-154; K-311 and K-313.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Arg311", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little change in levels of methylation; when associated with K-29; K-147; K-154 and K-313.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Arg313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little change in levels of methylation; when associated with K-29; K-147; K-154 and K-311.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "18951090", "url": "https://glygen.org/publication/PubMed/18951090" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-326; A-391; A-399; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-326; A-380; A-399; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-326; A-380; A-391; A-413 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-326; A-380; A-391; A-399 and A-415.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by NLK; when associated with A-284; A-295; A-326; A-380; A-391; A-399 and A-413.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "20061393", "url": "https://glygen.org/publication/PubMed/20061393" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Leu462", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased transcriptional activity by about 2-fold in the absence of serum; when associated with A-463. Nuclear location but transcriptional activity decreased by about 50%. Abolishes the SIRT1 deacetylase binding and increases acetylation; when associated with A-24; A-253; A-316 and A-463.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "16917544", "url": "https://glygen.org/publication/PubMed/16917544" } ] } ] }, { "uniprot_canonical_ac": "Q9R1E0-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Leu463", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased transcriptional activity by about 2-fold in the absence of serum; when associated with A-463. Nuclear location but transcriptional activity decreased by about 50%. Abolishes the SIRT1 deacetylase binding and increases acetylation; when associated with A-24; A-253; A-316 and A-462.", "evidence": [ { "database": "UniProtKB", "id": "Q9R1E0", "url": "https://www.uniprot.org/uniprotkb/Q9R1E0" }, { "database": "PubMed", "id": "16917544", "url": "https://glygen.org/publication/PubMed/16917544" } ] } ] } ], "record_id": "Q9R1E0-1" }, { "uniprot_canonical_ac": "Q06986-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 325, "chemical_mass": 34758.0, "gene_names": "Siah2;Siah2;Sinh2", "protein_name": "E3 ubiquitin-protein ligase SIAH2", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "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": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q06986-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Thr120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ] } ] }, { "uniprot_canonical_ac": "Q06986-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ] } ] }, { "uniprot_canonical_ac": "Q06986-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" }, { "database": "iPTMnet", "id": "Q06986", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06986" }, { "database": "PubMed", "id": "17003045", "url": "https://glygen.org/publication/PubMed/17003045" } ] } ] }, { "uniprot_canonical_ac": "Q06986-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" }, { "database": "iPTMnet", "id": "Q06986", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06986" }, { "database": "PubMed", "id": "17003045", "url": "https://glygen.org/publication/PubMed/17003045" } ] } ] }, { "uniprot_canonical_ac": "Q06986-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ] } ] }, { "uniprot_canonical_ac": "Q06986-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06986", "url": "https://www.uniprot.org/uniprotkb/Q06986" } ] } ] } ], "record_id": "Q06986-1" }, { "uniprot_canonical_ac": "Q61743-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 390, "chemical_mass": 43562.0, "gene_names": "Kcnj11;Kcnj11;Kir6.2;mBIR", "protein_name": "ATP-sensitive inward rectifier potassium channel 11", "disease": [ { "disease_id": "DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.", "url": "https://disease-ontology.org/term/DOID:0060639", "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ], "weight": 0.0 }, { "disease_id": "DOID:0061172", "name": "transient neonatal diabetes mellitus 3", "description": "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061172", "evidence": [ { "id": "0061172", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061172" } ], "weight": 0.0 }, { "disease_id": "DOID:0070218", "name": "familial hyperinsulinemic hypoglycemia 2", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.", "url": "https://disease-ontology.org/term/DOID:0070218", "evidence": [ { "id": "0070218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070218" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0111110", "name": "maturity-onset diabetes of the young type 13", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0111110", "evidence": [ { "id": "0111110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111110" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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 }, { "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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "inward rectifying potassium channel", "id": "GO:0008282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008282", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" } ], "biological_process": [ { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "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": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "CAMKK-AMPK signaling cascade", "id": "GO:0061762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061762", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "positive regulation of cation channel activity", "id": "GO:2001259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001259", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "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": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue development", "id": "GO:0003229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003229", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "response to resveratrol", "id": "GO:1904638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904638", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "ATP-activated inward rectifier potassium channel activity", "id": "GO:0015272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015272", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "potassium ion binding", "id": "GO:0030955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030955", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "ATPase-coupled monoatomic cation transmembrane transporter activity", "id": "GO:0019829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019829", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "voltage-gated potassium channel activity", "id": "GO:0005249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005249", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "inward rectifier potassium channel activity", "id": "GO:0005242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005242", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "id": "GO:0099508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099508", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61743-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ] } ] }, { "uniprot_canonical_ac": "Q61743-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61743", "url": "https://www.uniprot.org/uniprotkb/Q61743" } ] } ] } ], "record_id": "Q61743-1" }, { "uniprot_canonical_ac": "P97287-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 35217.0, "gene_names": "Mcl1;Gm52627;Mcl-1;Mcl1", "protein_name": "Induced myeloid leukemia cell differentiation protein Mcl-1 homolog", "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "Bcl-2 family protein complex", "id": "GO:0097136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097136", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "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": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903378", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "BH3 domain binding", "id": "GO:0051434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051434", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" }, { "name": "BH domain binding", "id": "GO:0051400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051400", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97287-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ] } ] }, { "uniprot_canonical_ac": "P97287-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WV60-1", "kinase_gene_name": "Gsk3b", "evidence": [ { "database": "iPTMnet", "id": "P97287", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97287" }, { "database": "PubMed", "id": "16543145", "url": "https://glygen.org/publication/PubMed/16543145" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" }, { "database": "iPTMnet", "id": "P97287", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97287" }, { "database": "PubMed", "id": "16543145", "url": "https://glygen.org/publication/PubMed/16543145" } ] } ] }, { "uniprot_canonical_ac": "P97287-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ] } ] }, { "uniprot_canonical_ac": "P97287-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Thr144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97287", "url": "https://www.uniprot.org/uniprotkb/P97287" } ] } ] }, { "uniprot_canonical_ac": "P97287-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P97287", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97287" }, { "database": "PubMed", "id": "24213575", "url": "https://glygen.org/publication/PubMed/24213575" }, { "database": "PubMed", "id": "27449090", "url": "https://glygen.org/publication/PubMed/27449090" } ] } ] } ], "record_id": "P97287-1" }, { "uniprot_canonical_ac": "O35593-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 34577.0, "gene_names": "Psmd14;2610312C03Rik;3200001M20Rik;Pad1;Poh1;Psmd14;rpm11", "protein_name": "Ubiquitin C-terminal hydrolase PSMD14", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosolic proteasome complex", "id": "GO:0031597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031597", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "proteasome accessory complex", "id": "GO:0022624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022624", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "proteasome complex", "id": "GO:0000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000502", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "proteasome regulatory particle, lid subcomplex", "id": "GO:0008541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008541", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "endopeptidase activator activity", "id": "GO:0061133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061133", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "proteasome binding", "id": "GO:0070628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070628", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "K63-linked deubiquitinase activity", "id": "GO:0061578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061578", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "metal-dependent deubiquitinase activity", "id": "GO:0140492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140492", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" } ], "biological_process": [ { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "protein K63-linked deubiquitination", "id": "GO:0070536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070536", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "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": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35593-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ] } ] }, { "uniprot_canonical_ac": "O35593-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ] } ] }, { "uniprot_canonical_ac": "O35593-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Thr266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35593", "url": "https://www.uniprot.org/uniprotkb/O35593" } ] } ] } ], "record_id": "O35593-1" }, { "uniprot_canonical_ac": "Q62187-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 859, "chemical_mass": 97723.0, "gene_names": "Ttf1;TTF-1;TTF-I;Ttf1", "protein_name": "Transcription termination factor 1", "disease": [], "biological_process": [ { "name": "transcription by RNA polymerase I", "id": "GO:0006360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006360", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase I promoter", "id": "GO:0006361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006361", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "termination of RNA polymerase I transcription", "id": "GO:0006363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006363", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62187-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Ser457", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" }, { "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": "Q62187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" }, { "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": "Q62187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62187" } ] } ] }, { "uniprot_canonical_ac": "Q62187-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Ser845", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62187", "url": "https://www.uniprot.org/uniprotkb/Q62187" } ] } ] } ], "record_id": "Q62187-1" }, { "uniprot_canonical_ac": "Q9QXJ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 710, "chemical_mass": 77384.0, "gene_names": "Apbb1;Apbb1;Fe65;Rir", "protein_name": "Amyloid beta precursor protein binding family B member 1", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "main axon", "id": "GO:0044304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044304", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "growth cone lamellipodium", "id": "GO:1990761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990761", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "growth cone filopodium", "id": "GO:1990812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990812", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "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": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "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": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "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": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "negative regulation of cell cycle G1/S phase transition", "id": "GO:1902807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902807", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "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": 666, "start_aa": "Ser", "end_pos": 666, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser666", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QXJ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QXJ1" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9QXJ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXJ1" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXJ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Ser228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9QXJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXJ1" }, { "database": "PubMed", "id": "25397632", "url": "https://glygen.org/publication/PubMed/25397632" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ser517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXJ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Tyr547", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Ser610", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Trp280", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "F", "comment": "Abolishes ligand binding; when associated with A-283.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" }, { "database": "PubMed", "id": "9407065", "url": "https://glygen.org/publication/PubMed/9407065" } ] } ] }, { "uniprot_canonical_ac": "Q9QXJ1-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Pro283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes ligand binding; when associated with F-280.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprotkb/Q9QXJ1" }, { "database": "PubMed", "id": "9407065", "url": "https://glygen.org/publication/PubMed/9407065" } ] } ] } ], "record_id": "Q9QXJ1-1" }, { "uniprot_canonical_ac": "Q3UTH8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 516, "chemical_mass": 60927.0, "gene_names": "Arhgef9;9630036L12Rik;Arhgef9;Kiaa0424", "protein_name": "Rho guanine nucleotide exchange factor 9", "disease": [ { "disease_id": "DOID:0080215", "name": "developmental and epileptic encephalopathy 8", "description": "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.", "url": "https://disease-ontology.org/term/DOID:0080215", "evidence": [ { "id": "0080215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080215" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "glycinergic synapse", "id": "GO:0098690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098690", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "postsynaptic specialization", "id": "GO:0099572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099572", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" } ], "biological_process": [ { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" }, { "name": "regulation of postsynaptic specialization assembly", "id": "GO:0099150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099150", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UTH8-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UTH8", "url": "https://www.uniprot.org/uniprotkb/Q3UTH8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UTH8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UTH8" } ] } ] } ], "record_id": "Q3UTH8-1" }, { "uniprot_canonical_ac": "Q8BIZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1259, "chemical_mass": 139047.0, "gene_names": "Anks1b;AIDA-1b;AIDA-1;Anks1b;C030032C09Rik;E530015N03Rik;EB-1;Gm10937;Gm1555", "protein_name": "Ankyrin repeat and sterile alpha motif domain-containing protein 1B", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" } ], "biological_process": [ { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "chemical synaptic transmission, postsynaptic", "id": "GO:0099565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099565", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity by receptor localization to synapse", "id": "GO:1900383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900383", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" }, { "name": "postsynapse to nucleus signaling pathway", "id": "GO:0099527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099527", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Thr1257", "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": 1257, "start_aa": "Thr", "end_pos": 1257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1257", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BIZ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ser440", "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": 440, "start_aa": "Ser", "end_pos": 440, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser440", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BIZ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "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": 442, "start_aa": "Ser", "end_pos": 442, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser442", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BIZ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Thr503", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 503, "start_aa": "Thr", "end_pos": 503, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr503", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Asn966", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G98611JV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 966, "start_aa": "Asn", "end_pos": 966, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn966", "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": "Q8BIZ1-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Tyr1006", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Ser507", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Thr772", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Ser774", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "900", "end_pos": "900", "site_lbl": "Tyr900", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIZ1-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Ser973", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BIZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIZ1" } ] } ] } ], "record_id": "Q8BIZ1-1" }, { "uniprot_canonical_ac": "Q80TR1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1466, "chemical_mass": 161686.0, "gene_names": "Adgrl1;2900070I05Rik;Adgrl1;CLIBA;Kiaa0821;Lec2;Lphn1;mKIAA0821", "protein_name": "Adhesion G protein-coupled receptor L1", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "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": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "latrotoxin receptor activity", "id": "GO:0016524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016524", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1165", "end_pos": "1165", "site_lbl": "Asn1165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KQTESSFMAGDINSTPTLNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1165, "start_aa": "Asn", "end_pos": 1165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1165", "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": "Q80TR1-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Ser525", "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": 525, "start_aa": "Ser", "end_pos": 525, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser525", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q80TR1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80TR1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Asn526", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "glytoucan_ac": "G65019XG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPDLSNCTSPWVNQVAQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "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" } ] }, { "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": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Asn635", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 635, "start_aa": "Asn", "end_pos": 635, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn635", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Asn736", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G94533VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QNSRNGVVKVVFILYNNLGLFLSTENATVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 736, "start_aa": "Asn", "end_pos": 736, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn736", "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" } ] }, { "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": 736, "start_aa": "Asn", "end_pos": 736, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn736", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Asn795", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 795, "start_aa": "Asn", "end_pos": 795, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn795", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Asn800", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G37818NZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NHFNANCSFWNYSER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 800, "start_aa": "Asn", "end_pos": 800, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn800", "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" } ] }, { "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": 800, "start_aa": "Asn", "end_pos": 800, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn800", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "821", "end_pos": "821", "site_lbl": "Asn821", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2111", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ] }, { "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": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2JX9&bu=0&command=select+.A:98;+center+selection;+zoom+selection" }, "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "Q80TR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80TR1#ptm_processing" }, { "id": "18547526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18547526" }, { "id": "2JX9", "database": "PDB", "url": "https://www.rcsb.org/structure/2JX9" }, { "id": "2JX9", "database": "PDB", "url": "https://www.rcsb.org/structure/2JX9" }, { "id": "2JXA", "database": "PDB", "url": "https://www.rcsb.org/structure/2JXA" }, { "id": "2JXA", "database": "PDB", "url": "https://www.rcsb.org/structure/2JXA" }, { "id": "2JX9|A|98", "database": "", "url": "" }, { "id": "2JXA|A|98", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "8", "chr_pos": "84649637", "evidence": [ { "id": "rs3388946928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388946928" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1214", "end_pos": "1214", "site_lbl": "Ser1214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TR1" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1319", "end_pos": "1319", "site_lbl": "Ser1319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TR1" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "Ser1369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q80TR1", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q80TR1" }, { "database": "iPTMnet", "id": "Q80TR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TR1" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1448", "end_pos": "1448", "site_lbl": "Ser1448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TR1" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "1465", "end_pos": "1465", "site_lbl": "Ser1465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TR1" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Ala737", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->NPT).", "chr_id": "8", "chr_pos": "84660117", "evidence": [ { "id": "rs3388992789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388992789" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Lys120", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abrogates L-rhamnose binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abrogates L-rhamnose binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] } ] }, { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Glu42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abrogates L-rhamnose binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] }, { "sequence_org": "E", "sequence_mut": "D", "comment": "100-fold decreased affinity for L-rhamnose.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "100-fold decreased affinity for L-rhamnose.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] }, { "sequence_org": "E", "sequence_mut": "R", "comment": "Abrogates L-rhamnose binding.", "evidence": [ { "database": "UniProtKB", "id": "Q80TR1", "url": "https://www.uniprot.org/uniprotkb/Q80TR1" }, { "database": "PubMed", "id": "18547526", "url": "https://glygen.org/publication/PubMed/18547526" } ] } ] } ], "record_id": "Q80TR1-1" }, { "uniprot_canonical_ac": "Q8BWG8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 418, "chemical_mass": 46973.0, "gene_names": "Arrb1;1200006I17Rik;Arrb1;G430100A01Rik", "protein_name": "Beta-arrestin-1", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "pseudopodium", "id": "GO:0031143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031143", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase kinase binding", "id": "GO:0031434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031434", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "alpha-1B adrenergic receptor binding", "id": "GO:0031692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031692", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "AP-2 adaptor complex binding", "id": "GO:0035612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035612", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "arrestin family protein binding", "id": "GO:1990763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990763", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "alpha-1A adrenergic receptor binding", "id": "GO:0031691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031691", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "angiotensin receptor binding", "id": "GO:0031701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031701", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "follicle-stimulating hormone receptor binding", "id": "GO:0031762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031762", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "V2 vasopressin receptor binding", "id": "GO:0031896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031896", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "protein phosphorylated amino acid binding", "id": "GO:0045309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045309", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "desensitization of G protein-coupled receptor signaling pathway", "id": "GO:0002029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002029", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of interleukin-8 production", "id": "GO:0032717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032717", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "regulation of inositol trisphosphate biosynthetic process", "id": "GO:0032960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032960", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "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": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWG8-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Thr183", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BWG8-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Thr98", "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": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "38083975", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38083975" }, { "id": "Q8BWG8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BWG8" } ] } ] }, { "uniprot_canonical_ac": "Q8BWG8-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BWG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWG8" } ] } ] }, { "uniprot_canonical_ac": "Q8BWG8-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Tyr47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWG8", "url": "https://www.uniprot.org/uniprotkb/Q8BWG8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8BWG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWG8" } ] } ] } ], "record_id": "Q8BWG8-1" }, { "uniprot_canonical_ac": "Q9QWY8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1147, "chemical_mass": 127421.0, "gene_names": "Asap1;Asap1;DEF-1;Ddef1;Kiaa1249;PAP;Shag1;mKIAA1249;s19", "protein_name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "cell projection membrane", "id": "GO:0031253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031253", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine development", "id": "GO:0061000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061000", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "positive regulation of membrane tubulation", "id": "GO:1903527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903527", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Thr546", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 546, "start_aa": "Thr", "end_pos": 546, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr546", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Thr818", "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": 818, "start_aa": "Thr", "end_pos": 818, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr818", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QWY8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QWY8" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 818, "start_aa": "Thr", "end_pos": 818, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr818", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Ser822", "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": 822, "start_aa": "Ser", "end_pos": 822, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser822", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9QWY8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "823", "end_pos": "823", "site_lbl": "Thr823", "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": 823, "start_aa": "Thr", "end_pos": 823, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr823", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QWY8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QWY8" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9QWY8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QWY8" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Ser1026", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "1045", "end_pos": "1045", "site_lbl": "Ser1045", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Ser1059", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Thr1066", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ser1146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Tyr308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PRO", "id": "Q9QWY8", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9QWY8" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" }, { "database": "PubMed", "id": "12771146", "url": "https://glygen.org/publication/PubMed/12771146" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "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": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Ser741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Tyr782", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9QWY8", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9QWY8" }, { "database": "iPTMnet", "id": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" }, { "database": "PubMed", "id": "12771146", "url": "https://glygen.org/publication/PubMed/12771146" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Ser854", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Ser858", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "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": "Q9QWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QWY8" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "811", "end_pos": "811", "site_lbl": "Arg811", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Significant reduction in binding to SRC and CRK and loss of phosphorylation. Loss of binding and phosphorylation; when associated with A-910 and A-913.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "9819391", "url": "https://glygen.org/publication/PubMed/9819391" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Pro910", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Significant reduction in binding to SRC and CRK and decrease in phosphorylation; when associated with A-913. Loss of binding and phosphorylation; when associated with A-811 and A-913.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "9819391", "url": "https://glygen.org/publication/PubMed/9819391" } ] } ] }, { "uniprot_canonical_ac": "Q9QWY8-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Pro913", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Significant reduction in binding to SRC and CRK and decrease in phosphorylation; when associated with A-910. Loss of binding and phosphorylation; when associated with A-811 and A-910.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWY8", "url": "https://www.uniprot.org/uniprotkb/Q9QWY8" }, { "database": "PubMed", "id": "9819391", "url": "https://glygen.org/publication/PubMed/9819391" } ] } ] } ], "record_id": "Q9QWY8-1" }, { "uniprot_canonical_ac": "P98078-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 766, "chemical_mass": 82312.0, "gene_names": "Dab2;5730435J12Rik;D15Wsu122e;D630005B22Rik;Dab2;Doc-2;Doc2;p96", "protein_name": "Disabled homolog 2", "disease": [ { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "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 } ], "biological_process": [ { "name": "renal protein absorption", "id": "GO:0097017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097017", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway, planar cell polarity pathway", "id": "GO:2000096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000096", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "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": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of integrin-mediated signaling pathway", "id": "GO:2001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001046", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "regulation of Rho-dependent protein serine/threonine kinase activity", "id": "GO:2000298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000298", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of aldosterone biosynthetic process", "id": "GO:0032349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032349", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of aldosterone secretion", "id": "GO:2000860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000860", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of transcription elongation by RNA polymerase II", "id": "GO:0032968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032968", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "pinocytosis", "id": "GO:0006907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006907", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "leading edge cell differentiation", "id": "GO:0035026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035026", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "response to salt", "id": "GO:1902074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902074", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "AP-2 adaptor complex binding", "id": "GO:0035612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035612", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" }, { "name": "clathrin coat of coated pit", "id": "GO:0030132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030132", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P98078-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "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": 418, "start_aa": "Ser", "end_pos": 418, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser418", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "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": 419, "start_aa": "Ser", "end_pos": 419, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser419", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "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": 422, "start_aa": "Ser", "end_pos": 422, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser422", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "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": 423, "start_aa": "Ser", "end_pos": 423, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser423", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Thr504", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 504, "start_aa": "Thr", "end_pos": 504, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr504", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 558, "start_aa": "Thr", "end_pos": 558, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr558", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Thr566", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 566, "start_aa": "Thr", "end_pos": 566, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr566", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "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": 677, "start_aa": "Ser", "end_pos": 677, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser677", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "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": 678, "start_aa": "Ser", "end_pos": 678, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser678", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Ser727", "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": 727, "start_aa": "Ser", "end_pos": 727, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser727", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Ser737", "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": 737, "start_aa": "Ser", "end_pos": 737, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser737", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "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": 742, "start_aa": "Ser", "end_pos": 742, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser742", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Ser743", "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": 743, "start_aa": "Ser", "end_pos": 743, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser743", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "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": 746, "start_aa": "Ser", "end_pos": 746, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser746", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Ser749", "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": 749, "start_aa": "Ser", "end_pos": 749, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser749", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "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": 753, "start_aa": "Ser", "end_pos": 753, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser753", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P98078", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Tyr170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" }, { "database": "PubMed", "id": "24252604", "url": "https://glygen.org/publication/PubMed/24252604" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Thr671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Ser759", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P98078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98078" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Lys120", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "15", "chr_pos": "6451745", "evidence": [ { "id": "rs3389322199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389322199" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Abolishes LDLR endocytosis.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "16984970", "url": "https://glygen.org/publication/PubMed/16984970" }, { "database": "PubMed", "id": "16870701", "url": "https://glygen.org/publication/PubMed/16870701" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Impairs LDLR endocytosis.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "16984970", "url": "https://glygen.org/publication/PubMed/16984970" }, { "database": "PubMed", "id": "16870701", "url": "https://glygen.org/publication/PubMed/16870701" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Phe255", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with ITSN1, fails to internalize integrin beta-1; when associated with V-398, V-589, V-736 and V-765.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22648170", "url": "https://glygen.org/publication/PubMed/22648170" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Pro294", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Loss of interaction with FCHO2; when associated with A-299.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22323290", "url": "https://glygen.org/publication/PubMed/22323290" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Pro299", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Loss of interaction with FCHO2; when associated with A-294.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22323290", "url": "https://glygen.org/publication/PubMed/22323290" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Phe398", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with ITSN1, fails to internalize integrin beta-1; when associated with V-255, V-589, V-736 and V-765.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22648170", "url": "https://glygen.org/publication/PubMed/22648170" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Lys53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes binding to PtdIns(4,5)P2.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "16984970", "url": "https://glygen.org/publication/PubMed/16984970" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Abolishes LDLR endocytosis.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "16984970", "url": "https://glygen.org/publication/PubMed/16984970" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Phe589", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with EPS15 and impairs interaction with ITSN1, fails to internalize integrin beta-1; when associated with V-736 and V-765. Abolishes interaction with ITSN1; when associated with V-255, V-398, V-736 and V-765.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22648170", "url": "https://glygen.org/publication/PubMed/22648170" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Phe736", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with EPS15 and impairs interaction with ITSN1, fails to internalize integrin beta-1; when associated with V-589 and V-765. Abolishes interaction with ITSN1; when associated with V-255, V-398, V-589, and V-765.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22648170", "url": "https://glygen.org/publication/PubMed/22648170" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Phe765", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with EPS15 and impairs interaction with ITSN1, fails to internalize integrin beta-1; when associated with V-589 and V-736. Abolishes interaction with ITSN1; when associated with V-255, V-398, V-589 and V-736.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "22648170", "url": "https://glygen.org/publication/PubMed/22648170" } ] } ] }, { "uniprot_canonical_ac": "P98078-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Lys90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes binding to PtdIns(4,5)P2.", "evidence": [ { "database": "UniProtKB", "id": "P98078", "url": "https://www.uniprot.org/uniprotkb/P98078" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] } ], "record_id": "P98078-1" }, { "uniprot_canonical_ac": "Q9DCT6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 171, "chemical_mass": 17996.0, "gene_names": "Bacc1;0610010K14Rik;1110020A23Rik;Bacc1;Bap18", "protein_name": "BPTF-associated chromatin complex component 1", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" }, { "name": "NURF complex", "id": "GO:0016589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016589", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCT6-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCT6", "url": "https://www.uniprot.org/uniprotkb/Q9DCT6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9DCT6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCT6" } ] } ] } ], "record_id": "Q9DCT6-1" }, { "uniprot_canonical_ac": "Q8C1B1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1461, "chemical_mass": 164333.0, "gene_names": "Camsap2;1600013L13Rik;4930541M15Rik;Camsap1l1;Camsap2;Kiaa1078;mKIAA1078", "protein_name": "Calmodulin-regulated spectrin-associated protein 2", "disease": [], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule minus-end binding", "id": "GO:0051011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051011", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule minus-end", "id": "GO:0036449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036449", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule end", "id": "GO:1990752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990752", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "regulation of organelle organization", "id": "GO:0033043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033043", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "1120", "end_pos": "1120", "site_lbl": "Ser1120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "1285", "end_pos": "1285", "site_lbl": "Ser1285", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "1291", "end_pos": "1291", "site_lbl": "Ser1291", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "1293", "end_pos": "1293", "site_lbl": "Ser1293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Thr401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ser572", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Ser585", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Ser647", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Thr652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ser654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Ser836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Ser905", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Ser910", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "970", "end_pos": "970", "site_lbl": "Thr970", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "975", "end_pos": "975", "site_lbl": "Thr975", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "977", "end_pos": "977", "site_lbl": "Thr977", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "981", "end_pos": "981", "site_lbl": "Ser981", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] }, { "uniprot_canonical_ac": "Q8C1B1-1", "start_pos": "992", "end_pos": "992", "site_lbl": "Ser992", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1B1", "url": "https://www.uniprot.org/uniprotkb/Q8C1B1" } ] } ] } ], "record_id": "Q8C1B1-1" }, { "uniprot_canonical_ac": "G5E8K5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1961, "chemical_mass": 214062.0, "gene_names": "Ank3;2900054D09Rik;Ank-3;Ank3;AnkG;Ankyrin-3;Ankyrin-G", "protein_name": "Ankyrin-3", "disease": [ { "disease_id": "DOID:0050668", "name": "alcohol-related birth defects", "description": "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.", "url": "https://disease-ontology.org/term/DOID:0050668", "evidence": [ { "id": "0050668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050668" } ], "weight": 0.0 }, { "disease_id": "DOID:0081202", "name": "autosomal recessive intellectual developmental disorder 37", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0081202", "evidence": [ { "id": "0081202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081202" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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: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 }, { "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:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "maintenance of protein location in cell", "id": "GO:0032507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032507", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "negative regulation of endocytosis", "id": "GO:0045806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045806", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "protein localization to axon", "id": "GO:0099612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099612", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "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": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "clustering of voltage-gated sodium channels", "id": "GO:0045162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045162", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of action potential", "id": "GO:0045760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045760", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of cell communication by electrical coupling", "id": "GO:0010650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010650", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of homotypic cell-cell adhesion", "id": "GO:0034112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034112", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of membrane potential", "id": "GO:0045838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045838", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cellular response to magnesium ion", "id": "GO:0071286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071286", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "membrane assembly", "id": "GO:0071709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071709", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "maintenance of protein location in plasma membrane", "id": "GO:0072660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072660", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of membrane depolarization during cardiac muscle cell action potential", "id": "GO:1900827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900827", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "negative regulation of delayed rectifier potassium channel activity", "id": "GO:1902260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902260", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "regulation of protein targeting", "id": "GO:1903533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903533", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic structure", "id": "GO:0099159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099159", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "positive regulation of sodium ion import across plasma membrane", "id": "GO:1903784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903784", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "regulation of action potential", "id": "GO:0098900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098900", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "regulation of monoatomic cation transmembrane transport", "id": "GO:1904062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904062", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "inorganic ion homeostasis", "id": "GO:0098771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098771", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "spectrin-associated cytoskeleton", "id": "GO:0014731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014731", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "node of Ranvier", "id": "GO:0033268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033268", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "paranode region of axon", "id": "GO:0033270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033270", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "phosphorylation-dependent protein binding", "id": "GO:0140031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140031", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" }, { "name": "channel activator activity", "id": "GO:0099103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099103", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1520", "end_pos": "1520", "site_lbl": "Ser1520", "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": 1520, "start_aa": "Ser", "end_pos": 1520, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1520", "evidence": [ { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "G5E8K5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=G5E8K5" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "G5E8K5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asn207", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AAALLLQNDTNADVESK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "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": "G5E8K5-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42124LM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KSDANASYLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "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": "G5E8K5-1", "start_pos": "1114", "end_pos": "1114", "site_lbl": "Ser1114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Ser1451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1462", "end_pos": "1462", "site_lbl": "Ser1462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1470", "end_pos": "1470", "site_lbl": "Ser1470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Ser1473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1795", "end_pos": "1795", "site_lbl": "Ser1795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1813", "end_pos": "1813", "site_lbl": "Ser1813", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "1883", "end_pos": "1883", "site_lbl": "Ser1883", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Ser606", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Ser830", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "844", "end_pos": "844", "site_lbl": "Ser844", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Ser850", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ser873", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Ser914", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "917", "end_pos": "917", "site_lbl": "Ser917", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Ser923", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "G5E8K5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "958", "end_pos": "958", "site_lbl": "Ser958", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "10", "chr_pos": "69786831", "evidence": [ { "id": "rs3389083060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389083060" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "960", "end_pos": "960", "site_lbl": "Ser960", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8K5", "url": "https://www.uniprot.org/uniprotkb/G5E8K5" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ala234", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "10", "chr_pos": "69794875", "evidence": [ { "id": "rs253603475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253603475" } ] } ] }, { "uniprot_canonical_ac": "G5E8K5-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "10", "chr_pos": "69838368", "evidence": [ { "id": "rs3389098225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389098225" } ] } ] } ], "record_id": "G5E8K5-1" }, { "uniprot_canonical_ac": "Q8BZ05-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1703, "chemical_mass": 193398.0, "gene_names": "Arap2;Centd1;Gm148;Kiaa0580", "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BZ05-1", "start_pos": "1566", "end_pos": "1566", "site_lbl": "Asn1566", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G67031OU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGGLPLIPIQHERNATQAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1566, "start_aa": "Asn", "end_pos": 1566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1566", "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": "Q8BZ05-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Asn308", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNTTSAGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 308, "start_aa": "Asn", "end_pos": 308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn308", "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": "Q8BZ05-1", "start_pos": "1627", "end_pos": "1627", "site_lbl": "Ser1627", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BZ05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZ05" } ] } ] }, { "uniprot_canonical_ac": "Q8BZ05-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Tyr77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BZ05", "url": "https://www.uniprot.org/uniprotkb/Q8BZ05" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8BZ05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BZ05" } ] } ] } ], "record_id": "Q8BZ05-1" }, { "uniprot_canonical_ac": "Q8C033-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1345, "chemical_mass": 147946.0, "gene_names": "Arhgef10;6430549H08Rik;Arhgef10;Kiaa0294;mKIAA0294", "protein_name": "Rho guanine nucleotide exchange factor 10", "disease": [ { "disease_id": "DOID:0050668", "name": "alcohol-related birth defects", "description": "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.", "url": "https://disease-ontology.org/term/DOID:0050668", "evidence": [ { "id": "0050668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050668" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C033-1", "start_pos": "1264", "end_pos": "1264", "site_lbl": "Asn1264", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72065MN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NDLSSSSGSLNLSHGSSSLEHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1264, "start_aa": "Asn", "end_pos": 1264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1264", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->TLS).", "chr_id": "8", "chr_pos": "15049583", "evidence": [ { "id": "rs238628592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238628592" } ] } ] }, { "uniprot_canonical_ac": "Q8C033-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Asn757", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G12154JX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSYQNLNQSVAHDWTSGLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 757, "start_aa": "Asn", "end_pos": 757, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn757", "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": "Q8C033-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Asn885", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G61256FT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPEFKIECAAYNPEPYLSNESQPASPSTAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 885, "start_aa": "Asn", "end_pos": 885, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn885", "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": "Q8C033-1", "start_pos": "1262", "end_pos": "1262", "site_lbl": "Ser1262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C033" } ] } ] }, { "uniprot_canonical_ac": "Q8C033-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C033" } ] } ] }, { "uniprot_canonical_ac": "Q8C033-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C033", "url": "https://www.uniprot.org/uniprotkb/Q8C033" } ] } ] } ], "record_id": "Q8C033-1" }, { "uniprot_canonical_ac": "Q9DB20-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 213, "chemical_mass": 23364.0, "gene_names": "Atp5po;ATPO;Atp5o;Atp5po;D12Wsu28e;OSCP", "protein_name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial", "disease": [ { "disease_id": "DOID:0070464", "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 7", "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.", "url": "https://disease-ontology.org/term/DOID:0070464", "evidence": [ { "id": "0070464", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070464" } ], "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: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:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" }, { "name": "estradiol binding", "id": "GO:1903924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903924", "evidence": [ { "database": "UniProtKB", "id": "Q9DB20", "url": "https://www.uniprot.org/uniprotkb/Q9DB20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DB20-1" }, { "uniprot_canonical_ac": "Q9R0G6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 755, "chemical_mass": 82342.0, "gene_names": "Comp;Comp;TSP5", "protein_name": "Cartilage oligomeric matrix protein", "disease": [ { "disease_id": "DOID:0070303", "name": "multiple epiphyseal dysplasia 1", "description": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0070303", "evidence": [ { "id": "0070303", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070303" } ], "weight": 0.0 }, { "disease_id": "DOID:0070467", "name": "carpal tunnel syndrome 2", "description": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.", "url": "https://disease-ontology.org/term/DOID:0070467", "evidence": [ { "id": "0070467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070467" } ], "weight": 0.0 }, { "disease_id": "DOID:0080047", "name": "pseudoachondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080047", "evidence": [ { "id": "0080047", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080047" } ], "weight": 0.0 }, { "disease_id": "DOID:12721", "name": "multiple epiphyseal dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.", "url": "https://disease-ontology.org/term/DOID:12721", "evidence": [ { "id": "12721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12721" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "proteoglycan binding", "id": "GO:0043394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043394", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "vitamin D binding", "id": "GO:0005499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005499", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "thrombospondin complex", "id": "GO:1990341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990341", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "musculoskeletal movement", "id": "GO:0050881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050881", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "vascular associated smooth muscle contraction", "id": "GO:0014829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014829", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "vascular associated smooth muscle cell development", "id": "GO:0097084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097084", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "negative regulation of hemostasis", "id": "GO:1900047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900047", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "tendon development", "id": "GO:0035989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035989", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "cartilage homeostasis", "id": "GO:1990079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990079", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "growth plate cartilage development", "id": "GO:0003417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003417", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "bone growth", "id": "GO:0098868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098868", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0G6-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Asn119", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CGPCPPGYTGNGSHCTDVNECNAHPCFPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 119, "start_aa": "Asn", "end_pos": 119, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn119", "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" } ] }, { "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": 119, "start_aa": "Asn", "end_pos": 119, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn119", "evidence": [ { "id": "Q9R0G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0G6-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Asn740", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CNDTIPEDYESHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 740, "start_aa": "Asn", "end_pos": 740, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn740", "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" } ] }, { "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": 740, "start_aa": "Asn", "end_pos": 740, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn740", "evidence": [ { "id": "Q9R0G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0G6-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0G6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0G6" } ] } ] }, { "uniprot_canonical_ac": "Q9R0G6-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Val65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Equivalent to human variant V66E involved in CTS2 disease. Reduces secretion in tendon cells and nhibits oligomerization. Mutant mice develop inflammation and fibrosis in Achilles tendons and carpal tunnel. They show compromised regenerative capability of tendons.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0G6", "url": "https://www.uniprot.org/uniprotkb/Q9R0G6" }, { "database": "PubMed", "id": "32686688", "url": "https://glygen.org/publication/PubMed/32686688" } ] } ] } ], "record_id": "Q9R0G6-1" }, { "uniprot_canonical_ac": "Q91YE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1889, "chemical_mass": 209618.0, "gene_names": "Baz2a;Kiaa0314;Tip5", "protein_name": "Bromodomain adjacent to zinc finger domain protein 2A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "chromatin-protein adaptor activity", "id": "GO:0140463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140463", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "histone H4K16ac reader activity", "id": "GO:0140046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140046", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "chromatin silencing complex", "id": "GO:0005677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005677", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "rDNA heterochromatin", "id": "GO:0033553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033553", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000183", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase I", "id": "GO:0016479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016479", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "DNA methylation-dependent constitutive heterochromatin formation", "id": "GO:0006346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1323", "end_pos": "1323", "site_lbl": "Thr1323", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1323, "start_aa": "Thr", "end_pos": 1323, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1323", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1334", "end_pos": "1334", "site_lbl": "Thr1334", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1334, "start_aa": "Thr", "end_pos": 1334, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1334", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Thr274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 274, "start_aa": "Thr", "end_pos": 274, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Thr428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 428, "start_aa": "Thr", "end_pos": 428, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr428", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Ser1042", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Ser1174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1374", "end_pos": "1374", "site_lbl": "Ser1374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1377", "end_pos": "1377", "site_lbl": "Ser1377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1383", "end_pos": "1383", "site_lbl": "Ser1383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1545", "end_pos": "1545", "site_lbl": "Ser1545", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1733", "end_pos": "1733", "site_lbl": "Ser1733", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1738", "end_pos": "1738", "site_lbl": "Thr1738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1755", "end_pos": "1755", "site_lbl": "Ser1755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1767", "end_pos": "1767", "site_lbl": "Ser1767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Thr499", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Thr540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "10", "chr_pos": "127954502", "evidence": [ { "id": "rs46801858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46801858" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "1814", "end_pos": "1814", "site_lbl": "Tyr1814", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Impairs binding to chromatin.", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "12198165", "url": "https://glygen.org/publication/PubMed/12198165" } ] } ] }, { "uniprot_canonical_ac": "Q91YE5-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Lys672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation by KAT8/MOF, leading to increase interaction with TTF1 and association with pRNA.", "evidence": [ { "database": "UniProtKB", "id": "Q91YE5", "url": "https://www.uniprot.org/uniprotkb/Q91YE5" }, { "database": "PubMed", "id": "19578370", "url": "https://glygen.org/publication/PubMed/19578370" } ] } ] } ], "record_id": "Q91YE5-1" }, { "uniprot_canonical_ac": "Q02357-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1862, "chemical_mass": 204227.0, "gene_names": "Ank1;Ank-1;Ank1;nb;pale", "protein_name": "Ankyrin-1", "disease": [ { "disease_id": "DOID:0110916", "name": "hereditary spherocytosis type 1", "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.", "url": "https://disease-ontology.org/term/DOID:0110916", "evidence": [ { "id": "0110916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110916" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12971", "name": "hereditary spherocytosis", "description": "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.", "url": "https://disease-ontology.org/term/DOID:12971", "evidence": [ { "id": "12971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12971" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "spectrin-associated cytoskeleton", "id": "GO:0014731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014731", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "ankyrin-1 complex", "id": "GO:0170014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170014", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "porphyrin-containing compound biosynthetic process", "id": "GO:0006779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006779", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "multicellular organismal-level iron ion homeostasis", "id": "GO:0060586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060586", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "inorganic ion homeostasis", "id": "GO:0098771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098771", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02357-1", "start_pos": "977", "end_pos": "977", "site_lbl": "Thr977", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 977, "start_aa": "Thr", "end_pos": 977, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr977", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "8", "chr_pos": "23604168", "evidence": [ { "id": "rs3388976813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388976813" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1069", "end_pos": "1069", "site_lbl": "Tyr1069", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1078", "end_pos": "1078", "site_lbl": "Ser1078", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1374", "end_pos": "1374", "site_lbl": "Thr1374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Thr1376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1386", "end_pos": "1386", "site_lbl": "Ser1386", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1388", "end_pos": "1388", "site_lbl": "Ser1388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "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": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Thr1396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1424", "end_pos": "1424", "site_lbl": "Ser1424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Ser1473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1482", "end_pos": "1482", "site_lbl": "Ser1482", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1519", "end_pos": "1519", "site_lbl": "Ser1519", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1529", "end_pos": "1529", "site_lbl": "Ser1529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1612", "end_pos": "1612", "site_lbl": "Ser1612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1660", "end_pos": "1660", "site_lbl": "Ser1660", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1675", "end_pos": "1675", "site_lbl": "Ser1675", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "1685", "end_pos": "1685", "site_lbl": "Ser1685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ser425", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Ser777", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Ser813", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Ser830", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "852", "end_pos": "852", "site_lbl": "Ser852", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "862", "end_pos": "862", "site_lbl": "Thr862", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "957", "end_pos": "957", "site_lbl": "Thr957", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02357", "url": "https://www.uniprot.org/uniprotkb/Q02357" }, { "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": "Q02357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02357" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Ile249", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "8", "chr_pos": "23578622", "evidence": [ { "id": "rs3388971638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971638" } ] } ] }, { "uniprot_canonical_ac": "Q02357-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ile380", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHI->NHT).", "chr_id": "8", "chr_pos": "23585271", "evidence": [ { "id": "rs3388974200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388974200" } ] } ] } ], "record_id": "Q02357-1" }, { "uniprot_canonical_ac": "Q7TQC5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 342, "chemical_mass": 38723.0, "gene_names": "Aptx;2410016G21Rik;Aptx;FHA-HIT", "protein_name": "Aprataxin", "disease": [ { "disease_id": "DOID:0050754", "name": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia", "description": "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.", "url": "https://disease-ontology.org/term/DOID:0050754", "evidence": [ { "id": "0050754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050754" } ], "weight": 0.0 }, { "disease_id": "DOID:14784", "name": "olivopontocerebellar atrophy", "description": "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.", "url": "https://disease-ontology.org/term/DOID:14784", "evidence": [ { "id": "14784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14784" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "phosphoglycolate phosphatase activity", "id": "GO:0008967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008967", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "DNA 5'-adenosine monophosphate hydrolase activity", "id": "GO:0033699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033699", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "polynucleotide 3'-phosphatase activity", "id": "GO:0046403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046403", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "mismatched DNA binding", "id": "GO:0030983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030983", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "single-strand break-containing DNA binding", "id": "GO:1990165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990165", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "DNA-3'-diphospho-5'-guanosine diphosphatase activity", "id": "GO:0120108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120108", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQC5-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQC5" } ] } ] }, { "uniprot_canonical_ac": "Q7TQC5-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQC5" } ] } ] }, { "uniprot_canonical_ac": "Q7TQC5-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQC5", "url": "https://www.uniprot.org/uniprotkb/Q7TQC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQC5" } ] } ] } ], "record_id": "Q7TQC5-1" }, { "uniprot_canonical_ac": "Q8K2F0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 726, "chemical_mass": 79762.0, "gene_names": "Brd3;2410084F24Rik;Brd3;Fsrg2;ORFX;RINGL3", "protein_name": "Bromodomain-containing protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "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": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "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": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "histone H3K9me2/3 reader activity", "id": "GO:0062072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062072", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "histone H3K27cr reader activity", "id": "GO:0140038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140038", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "histone H3K18cr reader activity", "id": "GO:0140017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140017", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" }, { "name": "histone H3K9cr reader activity", "id": "GO:0140019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140019", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 188, "start_aa": "Thr", "end_pos": 188, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr188", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 232, "start_aa": "Thr", "end_pos": 232, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr232", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "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": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "Q8K2F0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K2F0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Thr249", "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": 249, "start_aa": "Thr", "end_pos": 249, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr249", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K2F0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K2F0" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Thr251", "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": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K2F0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K2F0" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Thr252", "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": 252, "start_aa": "Thr", "end_pos": 252, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr252", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "Q8K2F0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K2F0" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8K2F0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K2F0" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Asn542", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ANSTTTASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 542, "start_aa": "Asn", "end_pos": 542, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn542", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->IST).", "chr_id": "2", "chr_pos": "27342866", "evidence": [ { "id": "rs3388537926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388537926" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8K2F0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2F0" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" } ] } ] }, { "uniprot_canonical_ac": "Q8K2F0-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ser564", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2F0", "url": "https://www.uniprot.org/uniprotkb/Q8K2F0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2F0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2F0" } ] } ] } ], "record_id": "Q8K2F0-1" }, { "uniprot_canonical_ac": "Q8BGH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 84, "chemical_mass": 9223.0, "gene_names": "Cdc42se2;2810404F18Rik;Cdc42se2;SPEC2", "protein_name": "CDC42 small effector protein 2", "disease": [], "cellular_component": [ { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGH7-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "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": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BGH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BGH7" } ] } ] }, { "uniprot_canonical_ac": "Q8BGH7-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGH7" } ] } ] }, { "uniprot_canonical_ac": "Q8BGH7-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH7", "url": "https://www.uniprot.org/uniprotkb/Q8BGH7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGH7" } ] } ] } ], "record_id": "Q8BGH7-1" }, { "uniprot_canonical_ac": "P70345-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 193, "chemical_mass": 20790.0, "gene_names": "Bcl2l2;Bcl-w;Bcl2l2;Bclw;Gtrgal2;Gtrosa41;Kiaa0271;bclw;c98", "protein_name": "Bcl-2-like protein 2", "disease": [ { "disease_id": "DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.", "url": "https://disease-ontology.org/term/DOID:0002116", "evidence": [ { "id": "0002116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "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: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 }, { "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8584" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of mitochondrial membrane permeability", "id": "GO:0035795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035795", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "Sertoli cell proliferation", "id": "GO:0060011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060011", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "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": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "Bcl-2 family protein complex", "id": "GO:0097136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097136", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" }, { "name": "BH domain binding", "id": "GO:0051400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051400", "evidence": [ { "database": "UniProtKB", "id": "P70345", "url": "https://www.uniprot.org/uniprotkb/P70345" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70345-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 71, "start_aa": "Thr", "end_pos": 71, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr71", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P70345-1" }, { "uniprot_canonical_ac": "Q07440-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 172, "chemical_mass": 19914.0, "gene_names": "Bcl2a1;A1;Bcl2a1a;Bcl2a1;Bfl-1;Bfl1;Hbpa1", "protein_name": "Bcl-2-related protein A1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "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": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" } ], "molecular_function": [ { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q07440", "url": "https://www.uniprot.org/uniprotkb/Q07440" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q07440-1" }, { "uniprot_canonical_ac": "Q810B3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 25862.0, "gene_names": "Bsx;Bsx1a;Bsx1b;Bsx", "protein_name": "Brain-specific homeobox protein homolog", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "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": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "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": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q810B3-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Thr61", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 61, "start_aa": "Thr", "end_pos": 61, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr61", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q810B3-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Arg109", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the nuclear localization; when associated with G-101.", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" }, { "database": "PubMed", "id": "17353277", "url": "https://glygen.org/publication/PubMed/17353277" } ] } ] }, { "uniprot_canonical_ac": "Q810B3-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Arg111", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the nuclear localization; when associated with G-109.", "evidence": [ { "database": "UniProtKB", "id": "Q810B3", "url": "https://www.uniprot.org/uniprotkb/Q810B3" }, { "database": "PubMed", "id": "17353277", "url": "https://glygen.org/publication/PubMed/17353277" } ] } ] } ], "record_id": "Q810B3-1" }, { "uniprot_canonical_ac": "Q9EQG9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 624, "chemical_mass": 71111.0, "gene_names": "Cert1;2810404O15Rik;9230101K08Rik;CERT;Cert1;Cert;Col4a3bp;GPBP;Stard11", "protein_name": "Ceramide transfer protein", "disease": [ { "disease_id": "DOID:0070064", "name": "autosomal dominant intellectual developmental disorder 34", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.", "url": "https://disease-ontology.org/term/DOID:0070064", "evidence": [ { "id": "0070064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070064" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sphingomyelin biosynthetic process", "id": "GO:0006686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "ceramide metabolic process", "id": "GO:0006672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006672", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "ER to Golgi ceramide transport", "id": "GO:0035621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035621", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "intermembrane sphingolipid transfer", "id": "GO:0120012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120012", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "endoplasmic reticulum-trans-Golgi network membrane contact site", "id": "GO:0160258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160258", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "ceramide binding", "id": "GO:0097001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097001", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" }, { "name": "ceramide transfer activity", "id": "GO:0120017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120017", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EQG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EQG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Tyr372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" }, { "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": "Q9EQG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQG9", "url": "https://www.uniprot.org/uniprotkb/Q9EQG9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EQG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96734720", "evidence": [ { "id": "rs3389298809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298809" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96734810", "evidence": [ { "id": "rs3389296201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296201" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Phe182", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96735985", "evidence": [ { "id": "rs3389301364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389301364" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asp183", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96735988", "evidence": [ { "id": "rs3389283064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283064" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Glu270", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96746412", "evidence": [ { "id": "rs3389272487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389272487" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Asp278", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96746435", "evidence": [ { "id": "rs3389313530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313530" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Glu297", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96748820", "evidence": [ { "id": "rs3389309646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389309646" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Lys300", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96748830", "evidence": [ { "id": "rs3389296179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296179" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96753001", "evidence": [ { "id": "rs3389255981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389255981" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Arg374", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96753512", "evidence": [ { "id": "rs3550478232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550478232" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Asp411", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96761246", "evidence": [ { "id": "rs3550492214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550492214" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Ala449", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96765581", "evidence": [ { "id": "rs3389296176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296176" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Val453", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96765593", "evidence": [ { "id": "rs3389272469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389272469" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Cys459", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96765613", "evidence": [ { "id": "rs3389226720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389226720" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Asn530", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96770681", "evidence": [ { "id": "rs3389313500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313500" } ] } ] }, { "uniprot_canonical_ac": "Q9EQG9-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Pro603", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "96772318", "evidence": [ { "id": "rs3389309644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389309644" } ] } ] } ], "record_id": "Q9EQG9-1" }, { "uniprot_canonical_ac": "P70704-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1164, "chemical_mass": 131413.0, "gene_names": "Atp8a1;APLT;Atp3a2;Atp8a1;Atpc1;B230107D19Rik;ClassI", "protein_name": "Phospholipid-transporting ATPase IA", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "chromaffin granule membrane", "id": "GO:0042584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042584", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "phospholipid-translocating ATPase complex", "id": "GO:1990531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990531", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "ATPase-coupled intramembrane lipid transporter activity", "id": "GO:0140326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140326", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "phosphatidylserine flippase activity", "id": "GO:0140346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140346", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" } ], "biological_process": [ { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "positive regulation of phospholipid translocation", "id": "GO:0061092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061092", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" }, { "name": "aminophospholipid translocation", "id": "GO:0140331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140331", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70704-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asn279", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LMQNSTSPPLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "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": "P70704-1", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Ser1126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70704", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70704" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70704", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70704" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Thr28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P70704", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70704" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P70704", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70704" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70704", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70704" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Ile809", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IQT->NQT).", "chr_id": "5", "chr_pos": "67824949", "evidence": [ { "id": "rs3388748553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748553" } ] } ] }, { "uniprot_canonical_ac": "P70704-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asp409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "Decreases plasma membrane aminophospholipid translocation in neuronal cells.", "evidence": [ { "database": "UniProtKB", "id": "P70704", "url": "https://www.uniprot.org/uniprotkb/P70704" }, { "database": "PubMed", "id": "22007859", "url": "https://glygen.org/publication/PubMed/22007859" } ] } ] } ], "record_id": "P70704-1" }, { "uniprot_canonical_ac": "Q99PE2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 34063.0, "gene_names": "Ankra2;1110004M18Rik;Ankra2;Ankra", "protein_name": "Ankyrin repeat family A protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "3M complex", "id": "GO:1990393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990393", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "Q99PE2", "url": "https://www.uniprot.org/uniprotkb/Q99PE2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99PE2-1" }, { "uniprot_canonical_ac": "Q6GQX6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 883, "chemical_mass": 93474.0, "gene_names": "Anks6;2210417J20Rik;Ankrd14;Anks6;Gm635;SamCystin;Samd6;b2b1801.1Clo", "protein_name": "Ankyrin repeat and SAM domain-containing protein 6", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0111124", "name": "nephronophthisis 16", "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0111124", "evidence": [ { "id": "0111124", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111124" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" }, { "name": "ciliary inversin compartment", "id": "GO:0097543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097543", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6GQX6-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Asn623", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43669FQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPASPASSGSFNHSPHSSGGASGIGGMSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 623, "start_aa": "Asn", "end_pos": 623, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn623", "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": "Q6GQX6-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ] } ] }, { "uniprot_canonical_ac": "Q6GQX6-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ] } ] }, { "uniprot_canonical_ac": "Q6GQX6-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Ser740", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6GQX6", "url": "https://www.uniprot.org/uniprotkb/Q6GQX6" } ] } ] }, { "uniprot_canonical_ac": "Q6GQX6-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Asp564", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "4", "chr_pos": "47035820", "evidence": [ { "id": "rs3388681285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681285" } ] } ] } ], "record_id": "Q6GQX6-1" }, { "uniprot_canonical_ac": "Q8CIG8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 637, "chemical_mass": 72680.0, "gene_names": "Prmt5;Jbp1;Prmt5;Skb1", "protein_name": "Protein arginine N-methyltransferase 5", "disease": [ { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "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: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 } ], "biological_process": [ { "name": "positive regulation of mRNA splicing, via spliceosome", "id": "GO:0048026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048026", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "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": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "DNA-templated transcription termination", "id": "GO:0006353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006353", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "peptidyl-arginine N-methylation", "id": "GO:0035246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035246", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "Golgi ribbon formation", "id": "GO:0090161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090161", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:1904992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904992", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "negative regulation of gene expression via chromosomal CpG island methylation", "id": "GO:0044027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044027", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "methyl-CpG binding", "id": "GO:0008327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008327", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein-arginine N-methyltransferase activity", "id": "GO:0016274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016274", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "histone H4R3 methyltransferase activity", "id": "GO:0044020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044020", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein-arginine omega-N symmetric methyltransferase activity", "id": "GO:0035243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035243", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "histone H2AR3 methyltransferase activity", "id": "GO:0070612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070612", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "methylosome", "id": "GO:0034709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8CIG8", "url": "https://www.uniprot.org/uniprotkb/Q8CIG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CIG8-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "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": 67, "start_aa": "Thr", "end_pos": 67, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr67", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8CIG8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CIG8" } ] } ] } ], "record_id": "Q8CIG8-1" }, { "uniprot_canonical_ac": "Q9Z1R2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1154, "chemical_mass": 121037.0, "gene_names": "Bag6;2410045D21Rik;BAG-6;Bag6;Bat3;D17H6S52E;G3;Scythe", "protein_name": "Large proline-rich protein BAG6", "disease": [ { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 } ], "biological_process": [ { "name": "post-translational protein targeting to endoplasmic reticulum membrane", "id": "GO:0006620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006620", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide antigen via MHC class I", "id": "GO:0002474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002474", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "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": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "immune response-activating cell surface receptor signaling pathway", "id": "GO:0002429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002429", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "internal peptidyl-lysine acetylation", "id": "GO:0018393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018393", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "endoplasmic reticulum stress-induced pre-emptive quality control", "id": "GO:0061857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061857", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "tail-anchored membrane protein insertion into ER membrane", "id": "GO:0071816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071816", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "positive regulation of ERAD pathway", "id": "GO:1904294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904294", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "NK T cell activation", "id": "GO:0051132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051132", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "maintenance of unfolded protein", "id": "GO:0036506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036506", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "proteasome binding", "id": "GO:0070628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070628", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "misfolded protein binding", "id": "GO:0051787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051787", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "BAT3 complex", "id": "GO:0071818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071818", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Thr102", "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": 102, "start_aa": "Thr", "end_pos": 102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr102", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "1137", "end_pos": "1137", "site_lbl": "Asn1137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G85269DF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RLQEDPNYSPQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1137, "start_aa": "Asn", "end_pos": 1137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1137", "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": "Q9Z1R2-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 405, "start_aa": "Thr", "end_pos": 405, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr405", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "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": 465, "start_aa": "Ser", "end_pos": 465, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser465", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1R2" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ser474", "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": 474, "start_aa": "Ser", "end_pos": 474, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser474", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1R2" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Thr477", "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": 477, "start_aa": "Thr", "end_pos": 477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr477", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1R2" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Thr488", "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": 488, "start_aa": "Thr", "end_pos": 488, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr488", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Thr560", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 560, "start_aa": "Thr", "end_pos": 560, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr560", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Thr822", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 822, "start_aa": "Thr", "end_pos": 822, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr822", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "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": 96, "start_aa": "Ser", "end_pos": 96, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser96", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9Z1R2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1R2" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "993", "end_pos": "993", "site_lbl": "Asn993", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TSPEPQRENASPAPGTTAEEAMSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 993, "start_aa": "Asn", "end_pos": 993, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn993", "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": "Q9Z1R2-1", "start_pos": "1075", "end_pos": "1075", "site_lbl": "Thr1075", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "1103", "end_pos": "1103", "site_lbl": "Ser1103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Ser1139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Thr117", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "986", "end_pos": "986", "site_lbl": "Ser986", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Ser995", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R2" }, { "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": "Q9Z1R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1R2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1R2-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Ile857", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IRT->NRT).", "chr_id": "17", "chr_pos": "35364147", "evidence": [ { "id": "rs3389469420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389469420" } ] } ] } ], "record_id": "Q9Z1R2-1" }, { "uniprot_canonical_ac": "Q01815-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2139, "chemical_mass": 240138.0, "gene_names": "Cacna1c;Cach2;Cacn2;Cacna1c;Cacnl1a1;Cav1.2;Cchl1a1;D930026N18Rik;MBC;MELC-CC", "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1C", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060173", "name": "Timothy syndrome", "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.", "url": "https://disease-ontology.org/term/DOID:0060173", "evidence": [ { "id": "0060173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060173" } ], "weight": 0.0 }, { "disease_id": "DOID:0070536", "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "description": "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0070536", "evidence": [ { "id": "0070536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070536" } ], "weight": 0.0 }, { "disease_id": "DOID:0110220", "name": "Brugada syndrome 3", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0110220", "evidence": [ { "id": "0110220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110220" } ], "weight": 0.0 }, { "disease_id": "DOID:0110649", "name": "long QT syndrome 8", "description": "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0110649", "evidence": [ { "id": "0110649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110649" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "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": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "L-type voltage-gated calcium channel complex", "id": "GO:1990454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990454", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "caveolar macromolecular signaling complex", "id": "GO:0002095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002095", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of muscle contraction", "id": "GO:0045933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045933", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "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": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "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": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cardiac conduction", "id": "GO:0061337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061337", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium-ion regulated exocytosis", "id": "GO:0017156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017156", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion transport into cytosol", "id": "GO:0060402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060402", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "membrane depolarization during cardiac muscle cell action potential", "id": "GO:0086012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086012", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "immune system development", "id": "GO:0002520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002520", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase activity", "id": "GO:0045762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045762", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:0061577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061577", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell action potential", "id": "GO:0098911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098911", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "membrane depolarization during atrial cardiac muscle cell action potential", "id": "GO:0098912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098912", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1904879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904879", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential involved in contraction", "id": "GO:0086002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086002", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "membrane depolarization during AV node cell action potential", "id": "GO:0086045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086045", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cell communication involved in cardiac conduction", "id": "GO:0086065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086065", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "growth hormone secretion", "id": "GO:0030252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030252", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "smooth muscle contraction involved in micturition", "id": "GO:0060083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060083", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "positive regulation of membrane depolarization", "id": "GO:1904181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904181", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "system process", "id": "GO:0003008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003008", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "calcium ion transmembrane import into cytosol", "id": "GO:0097553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097553", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity involved in cardiac muscle cell action potential", "id": "GO:0086007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086007", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "high voltage-gated calcium channel activity", "id": "GO:0008331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008331", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity involved in AV node cell action potential", "id": "GO:0086056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086056", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1388", "end_pos": "1388", "site_lbl": "Asn1388", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IALNDTTEINR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1388, "start_aa": "Asn", "end_pos": 1388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1388", "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" } ] }, { "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": 1388, "start_aa": "Asn", "end_pos": 1388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1388", "evidence": [ { "id": "Q01815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01815#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1439", "end_pos": "1439", "site_lbl": "Asn1439", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1439, "start_aa": "Asn", "end_pos": 1439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1439", "evidence": [ { "id": "Q01815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01815#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Asn153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "Q01815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01815#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "6", "chr_pos": "119029580", "evidence": [ { "id": "rs3397432642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397432642" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1953", "end_pos": "1953", "site_lbl": "Thr1953", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1953, "start_aa": "Thr", "end_pos": 1953, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1953", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "118573077", "evidence": [ { "id": "rs3397124724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397124724" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1957", "end_pos": "1957", "site_lbl": "Thr1957", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1957, "start_aa": "Thr", "end_pos": 1957, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1957", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Asn328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QCQNGTVCKPGWDGPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "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" } ] }, { "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": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "evidence": [ { "id": "A0A087WRZ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WRZ6#ptm_processing" }, { "id": "PIRSR602077-3", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR602077-3" }, { "id": "A0A087WR02", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WR02#ptm_processing" }, { "id": "F7C376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F7C376#ptm_processing" }, { "id": "A0A087WPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WPP1#ptm_processing" }, { "id": "A0A087WS67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WS67#ptm_processing" }, { "id": "A0A087WQJ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WQJ4#ptm_processing" }, { "id": "A0A087WS40", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WS40#ptm_processing" }, { "id": "A0A087WPZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WPZ8#ptm_processing" }, { "id": "F8WJL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8WJL1#ptm_processing" }, { "id": "A0A087WRM3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WRM3#ptm_processing" }, { "id": "Q01815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01815#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1670", "end_pos": "1670", "site_lbl": "Ser1670", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "25368181", "url": "https://glygen.org/publication/PubMed/25368181" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Expected to abolish a phosphorylation site. Decreased channel activity. No effect on phosphorylation at S-1897. Causes heart hypertrophy and decreased exercise tolerance in adult mice.", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "25368181", "url": "https://glygen.org/publication/PubMed/25368181" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Ser1691", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1897", "end_pos": "1897", "site_lbl": "Ser1897", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" }, { "database": "PubMed", "id": "28119464", "url": "https://glygen.org/publication/PubMed/28119464" }, { "database": "PubMed", "id": "25368181", "url": "https://glygen.org/publication/PubMed/25368181" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation site. Abolishes increased vasoconstriction in response to elevated blood glucose.", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "28119464", "url": "https://glygen.org/publication/PubMed/28119464" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Thr476", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Ser808", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ser815", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q01815", "url": "https://www.uniprot.org/uniprotkb/Q01815" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q01815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01815" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1233", "end_pos": "1233", "site_lbl": "Thr1233", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIC->NIC).", "chr_id": "6", "chr_pos": "118629632", "evidence": [ { "id": "rs3388853827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853827" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "1740", "end_pos": "1740", "site_lbl": "Thr1740", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "6", "chr_pos": "118579228", "evidence": [ { "id": "rs31579954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31579954" } ] } ] }, { "uniprot_canonical_ac": "Q01815-1", "start_pos": "2015", "end_pos": "2015", "site_lbl": "Ser2015", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "6", "chr_pos": "118573055", "evidence": [ { "id": "rs3388849357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388849357" } ] } ] } ], "record_id": "Q01815-1" }, { "uniprot_canonical_ac": "Q9JKC7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 449, "chemical_mass": 49509.0, "gene_names": "Ap4m1;4930443L05Rik;Ap4m1;Ap4m4", "protein_name": "AP-4 complex subunit mu-1", "disease": [ { "disease_id": "DOID:0110802", "name": "hereditary spastic paraplegia 50", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.", "url": "https://disease-ontology.org/term/DOID:0110802", "evidence": [ { "id": "0110802", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110802" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "protein targeting to lysosome", "id": "GO:0006622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006622", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "Golgi to lysosome transport", "id": "GO:0090160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090160", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "Golgi to endosome transport", "id": "GO:0006895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006895", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "protein localization to basolateral plasma membrane", "id": "GO:1903361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903361", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "AP-1 adaptor complex", "id": "GO:0030121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030121", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "AP-4 adaptor complex", "id": "GO:0030124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030124", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprotkb/Q9JKC7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JKC7-1" }, { "uniprot_canonical_ac": "Q9Z1K5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 555, "chemical_mass": 64017.0, "gene_names": "Arih1;Ari1;Arih1;Ari;Hari;Hhari;Ubch7bp;Uip77", "protein_name": "E3 ubiquitin-protein ligase ARIH1", "disease": [], "cellular_component": [ { "name": "Cul4A-RING E3 ubiquitin ligase complex", "id": "GO:0031464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031464", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "Cul2-RING ubiquitin ligase complex", "id": "GO:0031462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031462", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "Cul3-RING ubiquitin ligase complex", "id": "GO:0031463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031463", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1K5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1K5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z1K5-1" }, { "uniprot_canonical_ac": "Q61324-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 712, "chemical_mass": 77902.0, "gene_names": "Arnt2;Arnt2;Hif-2b;Kiaa0307;bHLHe1;mKIAA0307", "protein_name": "Aryl hydrocarbon receptor nuclear translocator 2", "disease": [], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "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": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "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": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "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": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "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": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor binding", "id": "GO:0017162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017162", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor complex", "id": "GO:0034751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034751", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61324-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Asn559", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40926MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AFSSSVVHVPGVNDIQSSSSTGQNISQISR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 559, "start_aa": "Asn", "end_pos": 559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn559", "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": "Q61324-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Leu106", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Compromises NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Leu141", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ala145", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ile238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Val279", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Arg340", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asn422", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Does not compromise NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "Q61324-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Leu86", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Compromises SIM1:ARNT2 heterodimer stability. Compromises NPAS4:ARNT2 heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "Q61324", "url": "https://www.uniprot.org/uniprotkb/Q61324" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] } ], "record_id": "Q61324-1" }, { "uniprot_canonical_ac": "Q6PAL0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 825, "chemical_mass": 94155.0, "gene_names": "Bend3;Bend3;Kiaa1553;mKIAA1553", "protein_name": "BEN domain-containing protein 3", "disease": [], "biological_process": [ { "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": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000183", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "DNA methylation-dependent constitutive heterochromatin formation", "id": "GO:0006346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "positive regulation of ATP metabolic process", "id": "GO:1903580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903580", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" } ], "molecular_function": [ { "name": "rDNA binding", "id": "GO:0000182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000182", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PAL0-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ] } ] }, { "uniprot_canonical_ac": "Q6PAL0-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAL0", "url": "https://www.uniprot.org/uniprotkb/Q6PAL0" } ] } ] } ], "record_id": "Q6PAL0-1" }, { "uniprot_canonical_ac": "A2AHC3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1581, "chemical_mass": 175887.0, "gene_names": "Camsap1;9530003A05Rik;Camsap1;PRO2405", "protein_name": "Calmodulin-regulated spectrin-associated protein 1", "disease": [ { "disease_id": "DOID:0061141", "name": "complex cortical dysplasia with other brain malformations 12", "description": "A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0061141", "evidence": [ { "id": "0061141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061141" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "microtubule minus-end binding", "id": "GO:0051011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051011", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "microtubule minus-end", "id": "GO:0036449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036449", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "regulation of cell morphogenesis", "id": "GO:0022604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022604", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1046", "end_pos": "1046", "site_lbl": "Thr1046", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1046, "start_aa": "Thr", "end_pos": 1046, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1046", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1113", "end_pos": "1113", "site_lbl": "Thr1113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1113, "start_aa": "Thr", "end_pos": 1113, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1113", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1400", "end_pos": "1400", "site_lbl": "Thr1400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1400, "start_aa": "Thr", "end_pos": 1400, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1400", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "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": 370, "start_aa": "Ser", "end_pos": 370, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser370", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "A2AHC3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHC3" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "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": 374, "start_aa": "Ser", "end_pos": 374, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser374", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "A2AHC3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHC3" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "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": 386, "start_aa": "Ser", "end_pos": 386, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser386", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "A2AHC3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "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": 387, "start_aa": "Thr", "end_pos": 387, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr387", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "A2AHC3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHC3" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "A2AHC3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Thr559", "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": 559, "start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "A2AHC3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1069", "end_pos": "1069", "site_lbl": "Ser1069", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Ser1133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Ser1378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1407", "end_pos": "1407", "site_lbl": "Ser1407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "1516", "end_pos": "1516", "site_lbl": "Tyr1516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Thr511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ser553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ser560", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ser572", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Ser626", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHC3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Ser734", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] }, { "uniprot_canonical_ac": "A2AHC3-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AHC3", "url": "https://www.uniprot.org/uniprotkb/A2AHC3" } ] } ] } ], "record_id": "A2AHC3-1" }, { "uniprot_canonical_ac": "Q60875-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 985, "chemical_mass": 111974.0, "gene_names": "Arhgef2;Arhgef2;GEF-H1;GEFH1;GEF;Kiaa0651;LFP40;Lbcl1;Lfc;P40;mKIAA0651", "protein_name": "Rho guanine nucleotide exchange factor 2", "disease": [ { "disease_id": "DOID:0080312", "name": "neurodevelopmental disorder with midbrain and hindbrain malformations", "description": "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0080312", "evidence": [ { "id": "0080312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080312" } ], "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": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "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": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "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": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cellular response to muramyl dipeptide", "id": "GO:0071225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071225", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "negative regulation of podosome assembly", "id": "GO:0071802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071802", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "asymmetric neuroblast division", "id": "GO:0055059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055059", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "positive regulation of neuron migration", "id": "GO:2001224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001224", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60875-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNTALQSVSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "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": "Q60875-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EALICPTCNVTIHNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "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": "Q60875-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" }, { "database": "PubMed", "id": "30266824", "url": "https://glygen.org/publication/PubMed/30266824" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Ser133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Ser646", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Thr680", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Ser781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Thr795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Ser885", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" }, { "database": "PubMed", "id": "27738004", "url": "https://glygen.org/publication/PubMed/27738004" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Tyr893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ser895", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Ser931", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Ser939", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Ser940", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "944", "end_pos": "944", "site_lbl": "Thr944", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "946", "end_pos": "946", "site_lbl": "Ser946", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Ser951", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Ser952", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Ser955", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] }, { "uniprot_canonical_ac": "Q60875-1", "start_pos": "959", "end_pos": "959", "site_lbl": "Ser959", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60875", "url": "https://www.uniprot.org/uniprotkb/Q60875" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q60875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60875" } ] } ] } ], "record_id": "Q60875-1" }, { "uniprot_canonical_ac": "Q9CZK6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 655, "chemical_mass": 72082.0, "gene_names": "Anks3;2700067D09Rik;Anks3;Kiaa1977;mKIAA1977", "protein_name": "Ankyrin repeat and SAM domain-containing protein 3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on its interaction with NEK7.", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Thr318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on its interaction with NEK7.", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on its interaction with NEK7.", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ] }, { "uniprot_canonical_ac": "Q9CZK6-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" }, { "database": "iPTMnet", "id": "Q9CZK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZK6" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on its interaction with NEK7.", "evidence": [ { "database": "UniProtKB", "id": "Q9CZK6", "url": "https://www.uniprot.org/uniprotkb/Q9CZK6" }, { "database": "PubMed", "id": "26188091", "url": "https://glygen.org/publication/PubMed/26188091" } ] } ] } ], "record_id": "Q9CZK6-1" }, { "uniprot_canonical_ac": "O54918-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 22067.0, "gene_names": "Bcl2l11;1500006F24Rik;Bcl2l11;Bim;Bod;bcl2-L-11", "protein_name": "Bcl-2-like protein 11", "disease": [], "biological_process": [ { "name": "lymphocyte homeostasis", "id": "GO:0002260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002260", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "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": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902110", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "apoptotic process involved in embryonic digit morphogenesis", "id": "GO:1902263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902263", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "ear development", "id": "GO:0043583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043583", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "regulation of developmental pigmentation", "id": "GO:0048070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048070", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of fibroblast apoptotic process", "id": "GO:2000271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000271", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "leukocyte homeostasis", "id": "GO:0001776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001776", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "positive regulation of autophagy in response to ER overload", "id": "GO:0034263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034263", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "meiosis I", "id": "GO:0007127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007127", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "symbiont-mediated activation of host apoptosis", "id": "GO:0052151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052151", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "Bcl-2 family protein complex", "id": "GO:0097136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097136", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "BIM-BCL-xl complex", "id": "GO:0097140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097140", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "BIM-BCL-2 complex", "id": "GO:0097141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097141", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54918-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q61831-1", "kinase_gene_name": "Mapk10", "evidence": [ { "database": "iPTMnet", "id": "O54918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54918" }, { "database": "PubMed", "id": "12818176", "url": "https://glygen.org/publication/PubMed/12818176" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of TRIM2-binding; when associated with A-65 and A-73.", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PubMed", "id": "21478148", "url": "https://glygen.org/publication/PubMed/21478148" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "iPTMnet", "id": "O54918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54918" }, { "database": "PubMed", "id": "19100675", "url": "https://glygen.org/publication/PubMed/19100675" }, { "database": "PubMed", "id": "27013495", "url": "https://glygen.org/publication/PubMed/27013495" }, { "database": "PubMed", "id": "21478148", "url": "https://glygen.org/publication/PubMed/21478148" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of TRIM2-binding; when associated with A-55 and A-73.", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PubMed", "id": "21478148", "url": "https://glygen.org/publication/PubMed/21478148" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q61831-1", "kinase_gene_name": "Mapk10", "evidence": [ { "database": "iPTMnet", "id": "O54918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54918" }, { "database": "PubMed", "id": "12818176", "url": "https://glygen.org/publication/PubMed/12818176" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of TRIM2-binding; when associated with A-55 and A-65.", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PubMed", "id": "21478148", "url": "https://glygen.org/publication/PubMed/21478148" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PRO", "id": "O54918", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=O54918" }, { "database": "iPTMnet", "id": "O54918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54918" }, { "database": "PubMed", "id": "19367708", "url": "https://glygen.org/publication/PubMed/19367708" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Leu150", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "", "comment": "Loss of MCL1-binding, strong decrease in BCL2L1-binding, no effect on USP27X-binding; when associated with I-153 del.", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PubMed", "id": "27013495", "url": "https://glygen.org/publication/PubMed/27013495" } ] } ] }, { "uniprot_canonical_ac": "O54918-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ile153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "", "comment": "Loss of MCL1-binding, strong decrease in BCL2L1-binding, no effect on USP27X-binding; when associated with L-150 del.", "evidence": [ { "database": "UniProtKB", "id": "O54918", "url": "https://www.uniprot.org/uniprotkb/O54918" }, { "database": "PubMed", "id": "27013495", "url": "https://glygen.org/publication/PubMed/27013495" } ] } ] } ], "record_id": "O54918-1" }, { "uniprot_canonical_ac": "P58660-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1021, "chemical_mass": 114414.0, "gene_names": "Card10;Bimp1;Card10;Carma3", "protein_name": "Caspase recruitment domain-containing protein 10", "disease": [ { "disease_id": "DOID:0061059", "name": "immunodeficiency 89", "description": "A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0061059", "evidence": [ { "id": "0061059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061059" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090051", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" }, { "name": "activation of NF-kappaB-inducing kinase activity", "id": "GO:0007250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007250", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58660-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58660", "url": "https://www.uniprot.org/uniprotkb/P58660" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P58660", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58660" } ] } ] } ], "record_id": "P58660-1" }, { "uniprot_canonical_ac": "Q8CC27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 655, "chemical_mass": 73149.0, "gene_names": "Cacnb2;CAB2;Cacnb2;Cacnlb2;Cavbeta2;Cchb2", "protein_name": "Voltage-dependent L-type calcium channel subunit beta-2", "disease": [ { "disease_id": "DOID:0110221", "name": "Brugada syndrome 4", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.", "url": "https://disease-ontology.org/term/DOID:0110221", "evidence": [ { "id": "0110221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110221" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of muscle contraction", "id": "GO:0045933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045933", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "regulation of voltage-gated calcium channel activity", "id": "GO:1901385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901385", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "membrane depolarization during atrial cardiac muscle cell action potential", "id": "GO:0098912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098912", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1904879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904879", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "membrane depolarization during AV node cell action potential", "id": "GO:0086045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086045", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "L-type voltage-gated calcium channel complex", "id": "GO:1990454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990454", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels", "id": "GO:0099626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099626", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "high voltage-gated calcium channel activity", "id": "GO:0008331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008331", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity involved in AV node cell action potential", "id": "GO:0086056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086056", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Asn199", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SGGNSSSSLGDIVPSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 199, "start_aa": "Asn", "end_pos": 199, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn199", "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": "Q8CC27-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" } ] } ] }, { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CC27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CC27" } ] } ] }, { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CC27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CC27" } ] } ] }, { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CC27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CC27" } ] } ] }, { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Thr549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CC27", "url": "https://www.uniprot.org/uniprotkb/Q8CC27" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CC27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CC27" } ] } ] }, { "uniprot_canonical_ac": "Q8CC27-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asp5", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "2", "chr_pos": "14609274", "evidence": [ { "id": "rs5525328585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525328585" } ] } ] } ], "record_id": "Q8CC27-1" }, { "uniprot_canonical_ac": "Q80U35-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2057, "chemical_mass": 221671.0, "gene_names": "Arhgef17;8030463K16;Arhgef17;Kiaa0337;mKIAA0337", "protein_name": "Rho guanine nucleotide exchange factor 17", "disease": [ { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "2012", "end_pos": "2012", "site_lbl": "Thr2012", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2012, "start_aa": "Thr", "end_pos": 2012, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2012", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Thr329", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 329, "start_aa": "Thr", "end_pos": 329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr329", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Thr695", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 695, "start_aa": "Thr", "end_pos": 695, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr695", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Asn711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28905MY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KVPPSGPNGTELSNGEASEAYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 711, "start_aa": "Asn", "end_pos": 711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn711", "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": "Q80U35-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Thr765", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 765, "start_aa": "Thr", "end_pos": 765, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr765", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "1324", "end_pos": "1324", "site_lbl": "Ser1324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ser305", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Ser456", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Ser538", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ser611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Thr692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Ser906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "953", "end_pos": "953", "site_lbl": "Ser953", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] }, { "uniprot_canonical_ac": "Q80U35-1", "start_pos": "994", "end_pos": "994", "site_lbl": "Ser994", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U35", "url": "https://www.uniprot.org/uniprotkb/Q80U35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U35" } ] } ] } ], "record_id": "Q80U35-1" }, { "uniprot_canonical_ac": "Q8CJ12-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1009, "chemical_mass": 110200.0, "gene_names": "Adgrg2;Adgrg2;B830041D06Rik;Gpr64;Me6", "protein_name": "Adhesion G protein-coupled receptor G2", "disease": [ { "disease_id": "DOID:0111863", "name": "X-linked congenital bilateral absence of vas deferens", "description": "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13.", "url": "https://disease-ontology.org/term/DOID:0111863", "evidence": [ { "id": "0111863", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111863" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Asn109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asn127", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Asn136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Asn154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Asn186", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 186, "start_aa": "Asn", "end_pos": 186, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn186", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 340, "start_aa": "Thr", "end_pos": 340, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr340", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Asn362", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->TTS).", "chr_id": "X", "chr_pos": "159261987", "evidence": [ { "id": "rs227938414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227938414" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 427, "start_aa": "Asn", "end_pos": 427, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn427", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Asn43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 43, "start_aa": "Asn", "end_pos": 43, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn43", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Asn448", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 448, "start_aa": "Asn", "end_pos": 448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn448", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Asn453", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 453, "start_aa": "Asn", "end_pos": 453, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn453", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->YTT).", "chr_id": "X", "chr_pos": "159263338", "evidence": [ { "id": "rs3412608132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412608132" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Asn520", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 520, "start_aa": "Asn", "end_pos": 520, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn520", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Asn534", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 534, "start_aa": "Asn", "end_pos": 534, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn534", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Asn539", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95177YH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLTRNVTVALK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "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" } ] }, { "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": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Asn543", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTVALK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 543, "start_aa": "Asn", "end_pos": 543, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn543", "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" } ] }, { "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": 543, "start_aa": "Asn", "end_pos": 543, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn543", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Thr545", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 545, "start_aa": "Thr", "end_pos": 545, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr545", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Asn589", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 589, "start_aa": "Asn", "end_pos": 589, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn589", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asn77", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Asn849", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 849, "start_aa": "Asn", "end_pos": 849, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn849", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TFNASGVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "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" } ] }, { "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": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "evidence": [ { "id": "Q8CJ12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "1002", "end_pos": "1002", "site_lbl": "Ser1002", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ12", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ12" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ile670", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "X", "chr_pos": "159268711", "evidence": [ { "id": "rs257666586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257666586" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Phe564", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Trp576", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impaired G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Thr599", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Increased G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] }, { "sequence_org": "T", "sequence_mut": "V", "comment": "Increased G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Phe601", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Leu605", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Pro614", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Met617", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Thr624", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone. Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Leu667", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Phe671", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Asn763", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Thr765", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Phe769", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Trp771", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impaired G protein-coupled receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Trp838", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" }, { "database": "PubMed", "id": "35418677", "url": "https://glygen.org/publication/PubMed/35418677" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Phe842", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ12-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Met853", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Strongly decreased G protein-coupled receptor activity in response to dehydroepiandrosterone. Impaired structural change induced by deoxycorticosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ12", "url": "https://www.uniprot.org/uniprotkb/Q8CJ12" }, { "database": "PubMed", "id": "35982227", "url": "https://glygen.org/publication/PubMed/35982227" } ] } ] } ], "record_id": "Q8CJ12-1" }, { "uniprot_canonical_ac": "P31750-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 480, "chemical_mass": 55707.0, "gene_names": "Akt1;Akt1;Akt;LTR-akt;PKB/Akt;PKBalpha;PKB;Rac", "protein_name": "RAC-alpha serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081002", "name": "Cowden syndrome 6", "description": "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.", "url": "https://disease-ontology.org/term/DOID:0081002", "evidence": [ { "id": "0081002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081002" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:13482", "name": "Proteus syndrome", "description": "A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.", "url": "https://disease-ontology.org/term/DOID:13482", "evidence": [ { "id": "13482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13482" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "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:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "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: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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of cilium assembly", "id": "GO:1902018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902018", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to decreased oxygen levels", "id": "GO:0036294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036294", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "sphingosine-1-phosphate receptor signaling pathway", "id": "GO:0003376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003376", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "complement receptor mediated signaling pathway", "id": "GO:0002430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002430", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to sorbitol", "id": "GO:0072709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072709", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor signaling pathway", "id": "GO:0034123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034123", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of fatty acid beta-oxidation", "id": "GO:0031999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031999", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of superoxide anion generation", "id": "GO:0032929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032929", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of cholesterol biosynthetic process", "id": "GO:0045542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045542", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "anaphase-promoting complex-dependent catabolic process", "id": "GO:0031145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031145", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of glucose metabolic process", "id": "GO:0010907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010907", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to peptide", "id": "GO:1901653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901653", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of long-chain fatty acid import across plasma membrane", "id": "GO:0010748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010748", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to granulocyte macrophage colony-stimulating factor stimulus", "id": "GO:0097011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097011", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "maternal placenta development", "id": "GO:0001893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001893", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of glycogen biosynthetic process", "id": "GO:0005979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005979", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "activation-induced cell death of T cells", "id": "GO:0006924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006924", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of endodeoxyribonuclease activity", "id": "GO:0032079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032079", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glycogen cell differentiation involved in embryonic placenta development", "id": "GO:0060709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060709", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to UV-A", "id": "GO:0070141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070141", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "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": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "establishment of protein localization to mitochondrion", "id": "GO:0072655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072655", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "maintenance of protein location in mitochondrion", "id": "GO:0072656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072656", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "PERK-mediated unfolded protein response", "id": "GO:0036499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036499", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of leukocyte cell-cell adhesion", "id": "GO:1903038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903038", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of lymphocyte migration", "id": "GO:2000402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000402", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of PERK-mediated unfolded protein response", "id": "GO:1903898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903898", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of protein localization to endoplasmic reticulum", "id": "GO:1905552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905552", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "mammalian oogenesis stage", "id": "GO:0022605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022605", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "NLS-bearing protein import into nucleus", "id": "GO:0006607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006607", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cellular hyperosmotic salinity response", "id": "GO:0071475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071475", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein K29-linked ubiquitination", "id": "GO:0035519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035519", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903384", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "tRNA (guanine-N7)-methylation", "id": "GO:0106004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106004", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "SREBP-SCAP complex retention in endoplasmic reticulum", "id": "GO:0036316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036316", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of protein localization to lysosome", "id": "GO:0150033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150033", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "positive regulation of anaphase-promoting complex-dependent catabolic process", "id": "GO:1905786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905786", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of calcium import into the mitochondrion", "id": "GO:0110099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110099", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "regulation of tRNA methylation", "id": "GO:0110002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110002", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "negative regulation of cGAS/STING signaling pathway", "id": "GO:0160049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160049", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cGAS/STING signaling pathway", "id": "GO:0140896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140896", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "lateral motor column neuron differentiation", "id": "GO:0021525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021525", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "perinuclear theca", "id": "GO:0033011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033011", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "sperm glycocalyx", "id": "GO:0120238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120238", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "nitric-oxide synthase regulator activity", "id": "GO:0030235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030235", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "potassium channel activator activity", "id": "GO:0099104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099104", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "TORC2 complex binding", "id": "GO:1904841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904841", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31750-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 126, "start_aa": "Ser", "end_pos": 126, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "P31750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31750#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "26146542", "url": "https://glygen.org/publication/PubMed/26146542" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 129, "start_aa": "Ser", "end_pos": 129, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser129", "evidence": [ { "id": "P31750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31750#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "26739490", "url": "https://glygen.org/publication/PubMed/26739490" }, { "database": "PubMed", "id": "29725001", "url": "https://glygen.org/publication/PubMed/29725001" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Thr305", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 305, "start_aa": "Thr", "end_pos": 305, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr305", "evidence": [ { "id": "P31750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31750#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Thr308", "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": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "24526702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24526702" }, { "id": "P31750", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31750" }, { "id": "33915326", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33915326" }, { "id": "18570920", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18570920" }, { "id": "26866564", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26866564" }, { "id": "30031227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30031227" }, { "id": "23793825", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23793825" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PRO", "id": "P31750", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "31915252", "url": "https://glygen.org/publication/PubMed/31915252" }, { "database": "PubMed", "id": "10438924", "url": "https://glygen.org/publication/PubMed/10438924" }, { "database": "PubMed", "id": "11006271", "url": "https://glygen.org/publication/PubMed/11006271" }, { "database": "PubMed", "id": "11375936", "url": "https://glygen.org/publication/PubMed/11375936" }, { "database": "PubMed", "id": "11507090", "url": "https://glygen.org/publication/PubMed/11507090" }, { "database": "PubMed", "id": "11563975", "url": "https://glygen.org/publication/PubMed/11563975" }, { "database": "PubMed", "id": "11803463", "url": "https://glygen.org/publication/PubMed/11803463" }, { "database": "PubMed", "id": "12153489", "url": "https://glygen.org/publication/PubMed/12153489" }, { "database": "PubMed", "id": "12493740", "url": "https://glygen.org/publication/PubMed/12493740" }, { "database": "PubMed", "id": "12637511", "url": "https://glygen.org/publication/PubMed/12637511" }, { "database": "PubMed", "id": "12911789", "url": "https://glygen.org/publication/PubMed/12911789" }, { "database": "PubMed", "id": "12947100", "url": "https://glygen.org/publication/PubMed/12947100" }, { "database": "PubMed", "id": "14623889", "url": "https://glygen.org/publication/PubMed/14623889" }, { "database": "PubMed", "id": "15020199", "url": "https://glygen.org/publication/PubMed/15020199" }, { "database": "PubMed", "id": "15065872", "url": "https://glygen.org/publication/PubMed/15065872" }, { "database": "PubMed", "id": "15067018", "url": "https://glygen.org/publication/PubMed/15067018" }, { "database": "PubMed", "id": "15122342", "url": "https://glygen.org/publication/PubMed/15122342" }, { "database": "PubMed", "id": "15278907", "url": "https://glygen.org/publication/PubMed/15278907" }, { "database": "PubMed", "id": "15389876", "url": "https://glygen.org/publication/PubMed/15389876" }, { "database": "PubMed", "id": "15504738", "url": "https://glygen.org/publication/PubMed/15504738" }, { "database": "PubMed", "id": "15574782", "url": "https://glygen.org/publication/PubMed/15574782" }, { "database": "PubMed", "id": "15591229", "url": "https://glygen.org/publication/PubMed/15591229" }, { "database": "PubMed", "id": "15842198", "url": "https://glygen.org/publication/PubMed/15842198" }, { "database": "PubMed", "id": "16338957", "url": "https://glygen.org/publication/PubMed/16338957" }, { "database": "PubMed", "id": "16512910", "url": "https://glygen.org/publication/PubMed/16512910" }, { "database": "PubMed", "id": "16787946", "url": "https://glygen.org/publication/PubMed/16787946" }, { "database": "PubMed", "id": "16809629", "url": "https://glygen.org/publication/PubMed/16809629" }, { "database": "PubMed", "id": "16872509", "url": "https://glygen.org/publication/PubMed/16872509" }, { "database": "PubMed", "id": "17190838", "url": "https://glygen.org/publication/PubMed/17190838" }, { "database": "PubMed", "id": "17220321", "url": "https://glygen.org/publication/PubMed/17220321" }, { "database": "PubMed", "id": "17287469", "url": "https://glygen.org/publication/PubMed/17287469" }, { "database": "PubMed", "id": "17339838", "url": "https://glygen.org/publication/PubMed/17339838" }, { "database": "PubMed", "id": "17371830", "url": "https://glygen.org/publication/PubMed/17371830" }, { "database": "PubMed", "id": "17924178", "url": "https://glygen.org/publication/PubMed/17924178" }, { "database": "PubMed", "id": "17967879", "url": "https://glygen.org/publication/PubMed/17967879" }, { "database": "PubMed", "id": "17977562", "url": "https://glygen.org/publication/PubMed/17977562" }, { "database": "PubMed", "id": "18171481", "url": "https://glygen.org/publication/PubMed/18171481" }, { "database": "PubMed", "id": "18177853", "url": "https://glygen.org/publication/PubMed/18177853" }, { "database": "PubMed", "id": "18332223", "url": "https://glygen.org/publication/PubMed/18332223" }, { "database": "PubMed", "id": "18757368", "url": "https://glygen.org/publication/PubMed/18757368" }, { "database": "PubMed", "id": "18952837", "url": "https://glygen.org/publication/PubMed/18952837" }, { "database": "PubMed", "id": "19047061", "url": "https://glygen.org/publication/PubMed/19047061" }, { "database": "PubMed", "id": "19065678", "url": "https://glygen.org/publication/PubMed/19065678" }, { "database": "PubMed", "id": "19077278", "url": "https://glygen.org/publication/PubMed/19077278" }, { "database": "PubMed", "id": "19369943", "url": "https://glygen.org/publication/PubMed/19369943" }, { "database": "PubMed", "id": "19432987", "url": "https://glygen.org/publication/PubMed/19432987" }, { "database": "PubMed", "id": "19587782", "url": "https://glygen.org/publication/PubMed/19587782" }, { "database": "PubMed", "id": "19627269", "url": "https://glygen.org/publication/PubMed/19627269" }, { "database": "PubMed", "id": "19657063", "url": "https://glygen.org/publication/PubMed/19657063" }, { "database": "PubMed", "id": "19731018", "url": "https://glygen.org/publication/PubMed/19731018" }, { "database": "PubMed", "id": "19761823", "url": "https://glygen.org/publication/PubMed/19761823" }, { "database": "PubMed", "id": "19761830", "url": "https://glygen.org/publication/PubMed/19761830" }, { "database": "PubMed", "id": "19844585", "url": "https://glygen.org/publication/PubMed/19844585" }, { "database": "PubMed", "id": "20028942", "url": "https://glygen.org/publication/PubMed/20028942" }, { "database": "PubMed", "id": "20103705", "url": "https://glygen.org/publication/PubMed/20103705" }, { "database": "PubMed", "id": "20179753", "url": "https://glygen.org/publication/PubMed/20179753" }, { "database": "PubMed", "id": "20188786", "url": "https://glygen.org/publication/PubMed/20188786" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" }, { "database": "PubMed", "id": "20363892", "url": "https://glygen.org/publication/PubMed/20363892" }, { "database": "PubMed", "id": "20386333", "url": "https://glygen.org/publication/PubMed/20386333" }, { "database": "PubMed", "id": "20586915", "url": "https://glygen.org/publication/PubMed/20586915" }, { "database": "PubMed", "id": "20587420", "url": "https://glygen.org/publication/PubMed/20587420" }, { "database": "PubMed", "id": "20622167", "url": "https://glygen.org/publication/PubMed/20622167" }, { "database": "PubMed", "id": "20661274", "url": "https://glygen.org/publication/PubMed/20661274" }, { "database": "PubMed", "id": "20719961", "url": "https://glygen.org/publication/PubMed/20719961" }, { "database": "PubMed", "id": "20847051", "url": "https://glygen.org/publication/PubMed/20847051" }, { "database": "PubMed", "id": "20971978", "url": "https://glygen.org/publication/PubMed/20971978" }, { "database": "PubMed", "id": "20976192", "url": "https://glygen.org/publication/PubMed/20976192" }, { "database": "PubMed", "id": "21266327", "url": "https://glygen.org/publication/PubMed/21266327" }, { "database": "PubMed", "id": "21571071", "url": "https://glygen.org/publication/PubMed/21571071" }, { "database": "PubMed", "id": "21642988", "url": "https://glygen.org/publication/PubMed/21642988" }, { "database": "PubMed", "id": "21655268", "url": "https://glygen.org/publication/PubMed/21655268" }, { "database": "PubMed", "id": "21670491", "url": "https://glygen.org/publication/PubMed/21670491" }, { "database": "PubMed", "id": "21859896", "url": "https://glygen.org/publication/PubMed/21859896" }, { "database": "PubMed", "id": "21906027", "url": "https://glygen.org/publication/PubMed/21906027" }, { "database": "PubMed", "id": "21926268", "url": "https://glygen.org/publication/PubMed/21926268" }, { "database": "PubMed", "id": "21927580", "url": "https://glygen.org/publication/PubMed/21927580" }, { "database": "PubMed", "id": "22019461", "url": "https://glygen.org/publication/PubMed/22019461" }, { "database": "PubMed", "id": "22028912", "url": "https://glygen.org/publication/PubMed/22028912" }, { "database": "PubMed", "id": "22117619", "url": "https://glygen.org/publication/PubMed/22117619" }, { "database": "PubMed", "id": "22132131", "url": "https://glygen.org/publication/PubMed/22132131" }, { "database": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" }, { "database": "PubMed", "id": "22218715", "url": "https://glygen.org/publication/PubMed/22218715" }, { "database": "PubMed", "id": "22253608", "url": "https://glygen.org/publication/PubMed/22253608" }, { "database": "PubMed", "id": "22359505", "url": "https://glygen.org/publication/PubMed/22359505" }, { "database": "PubMed", "id": "22403300", "url": "https://glygen.org/publication/PubMed/22403300" }, { "database": "PubMed", "id": "22412835", "url": "https://glygen.org/publication/PubMed/22412835" }, { "database": "PubMed", "id": "22412912", "url": "https://glygen.org/publication/PubMed/22412912" }, { "database": "PubMed", "id": "22418434", "url": "https://glygen.org/publication/PubMed/22418434" }, { "database": "PubMed", "id": "22428049", "url": "https://glygen.org/publication/PubMed/22428049" }, { "database": "PubMed", "id": "22476915", "url": "https://glygen.org/publication/PubMed/22476915" }, { "database": "PubMed", "id": "22496778", "url": "https://glygen.org/publication/PubMed/22496778" }, { "database": "PubMed", "id": "22586587", "url": "https://glygen.org/publication/PubMed/22586587" }, { "database": "PubMed", "id": "22606274", "url": "https://glygen.org/publication/PubMed/22606274" }, { "database": "PubMed", "id": "22652602", "url": "https://glygen.org/publication/PubMed/22652602" }, { "database": "PubMed", "id": "22685300", "url": "https://glygen.org/publication/PubMed/22685300" }, { "database": "PubMed", "id": "22693641", "url": "https://glygen.org/publication/PubMed/22693641" }, { "database": "PubMed", "id": "22710723", "url": "https://glygen.org/publication/PubMed/22710723" }, { "database": "PubMed", "id": "22733590", "url": "https://glygen.org/publication/PubMed/22733590" }, { "database": "PubMed", "id": "22773877", "url": "https://glygen.org/publication/PubMed/22773877" }, { "database": "PubMed", "id": "22792172", "url": "https://glygen.org/publication/PubMed/22792172" }, { "database": "PubMed", "id": "22832498", "url": "https://glygen.org/publication/PubMed/22832498" }, { "database": "PubMed", "id": "22933110", "url": "https://glygen.org/publication/PubMed/22933110" }, { "database": "PubMed", "id": "22941977", "url": "https://glygen.org/publication/PubMed/22941977" }, { "database": "PubMed", "id": "23029230", "url": "https://glygen.org/publication/PubMed/23029230" }, { "database": "PubMed", "id": "23049865", "url": "https://glygen.org/publication/PubMed/23049865" }, { "database": "PubMed", "id": "23071621", "url": "https://glygen.org/publication/PubMed/23071621" }, { "database": "PubMed", "id": "23239877", "url": "https://glygen.org/publication/PubMed/23239877" }, { "database": "PubMed", "id": "23251389", "url": "https://glygen.org/publication/PubMed/23251389" }, { "database": "PubMed", "id": "23251519", "url": "https://glygen.org/publication/PubMed/23251519" }, { "database": "PubMed", "id": "23275438", "url": "https://glygen.org/publication/PubMed/23275438" }, { "database": "PubMed", "id": "23311350", "url": "https://glygen.org/publication/PubMed/23311350" }, { "database": "PubMed", "id": "23386984", "url": "https://glygen.org/publication/PubMed/23386984" }, { "database": "PubMed", "id": "23390495", "url": "https://glygen.org/publication/PubMed/23390495" }, { "database": "PubMed", "id": "23444402", "url": "https://glygen.org/publication/PubMed/23444402" }, { "database": "PubMed", "id": "23451056", "url": "https://glygen.org/publication/PubMed/23451056" }, { "database": "PubMed", "id": "23469174", "url": "https://glygen.org/publication/PubMed/23469174" }, { "database": "PubMed", "id": "23493568", "url": "https://glygen.org/publication/PubMed/23493568" }, { "database": "PubMed", "id": "23554947", "url": "https://glygen.org/publication/PubMed/23554947" }, { "database": "PubMed", "id": "23593332", "url": "https://glygen.org/publication/PubMed/23593332" }, { "database": "PubMed", "id": "23622715", "url": "https://glygen.org/publication/PubMed/23622715" }, { "database": "PubMed", "id": "23671593", "url": "https://glygen.org/publication/PubMed/23671593" }, { "database": "PubMed", "id": "23716717", "url": "https://glygen.org/publication/PubMed/23716717" }, { "database": "PubMed", "id": "23750258", "url": "https://glygen.org/publication/PubMed/23750258" }, { "database": "PubMed", "id": "23874604", "url": "https://glygen.org/publication/PubMed/23874604" }, { "database": "PubMed", "id": "23907468", "url": "https://glygen.org/publication/PubMed/23907468" }, { "database": "PubMed", "id": "23935891", "url": "https://glygen.org/publication/PubMed/23935891" }, { "database": "PubMed", "id": "23940776", "url": "https://glygen.org/publication/PubMed/23940776" }, { "database": "PubMed", "id": "23964069", "url": "https://glygen.org/publication/PubMed/23964069" }, { "database": "PubMed", "id": "24068327", "url": "https://glygen.org/publication/PubMed/24068327" }, { "database": "PubMed", "id": "24068707", "url": "https://glygen.org/publication/PubMed/24068707" }, { "database": "PubMed", "id": "24101676", "url": "https://glygen.org/publication/PubMed/24101676" }, { "database": "PubMed", "id": "24116102", "url": "https://glygen.org/publication/PubMed/24116102" }, { "database": "PubMed", "id": "24126057", "url": "https://glygen.org/publication/PubMed/24126057" }, { "database": "PubMed", "id": "24150605", "url": "https://glygen.org/publication/PubMed/24150605" }, { "database": "PubMed", "id": "24156551", "url": "https://glygen.org/publication/PubMed/24156551" }, { "database": "PubMed", "id": "24280377", "url": "https://glygen.org/publication/PubMed/24280377" }, { "database": "PubMed", "id": "24280772", "url": "https://glygen.org/publication/PubMed/24280772" }, { "database": "PubMed", "id": "24286194", "url": "https://glygen.org/publication/PubMed/24286194" }, { "database": "PubMed", "id": "24340073", "url": "https://glygen.org/publication/PubMed/24340073" }, { "database": "PubMed", "id": "24349514", "url": "https://glygen.org/publication/PubMed/24349514" }, { "database": "PubMed", "id": "24351823", "url": "https://glygen.org/publication/PubMed/24351823" }, { "database": "PubMed", "id": "24434432", "url": "https://glygen.org/publication/PubMed/24434432" }, { "database": "PubMed", "id": "24435134", "url": "https://glygen.org/publication/PubMed/24435134" }, { "database": "PubMed", "id": "24505362", "url": "https://glygen.org/publication/PubMed/24505362" }, { "database": "PubMed", "id": "24621388", "url": "https://glygen.org/publication/PubMed/24621388" }, { "database": "PubMed", "id": "24647338", "url": "https://glygen.org/publication/PubMed/24647338" }, { "database": "PubMed", "id": "24649407", "url": "https://glygen.org/publication/PubMed/24649407" }, { "database": "PubMed", "id": "24662050", "url": "https://glygen.org/publication/PubMed/24662050" }, { "database": "PubMed", "id": "24670364", "url": "https://glygen.org/publication/PubMed/24670364" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" }, { "database": "PubMed", "id": "24722238", "url": "https://glygen.org/publication/PubMed/24722238" }, { "database": "PubMed", "id": "24734904", "url": "https://glygen.org/publication/PubMed/24734904" }, { "database": "PubMed", "id": "24740015", "url": "https://glygen.org/publication/PubMed/24740015" }, { "database": "PubMed", "id": "24775271", "url": "https://glygen.org/publication/PubMed/24775271" }, { "database": "PubMed", "id": "24810050", "url": "https://glygen.org/publication/PubMed/24810050" }, { "database": "PubMed", "id": "24944899", "url": "https://glygen.org/publication/PubMed/24944899" }, { "database": "PubMed", "id": "24945938", "url": "https://glygen.org/publication/PubMed/24945938" }, { "database": "PubMed", "id": "24967341", "url": "https://glygen.org/publication/PubMed/24967341" }, { "database": "PubMed", "id": "24987368", "url": "https://glygen.org/publication/PubMed/24987368" }, { "database": "PubMed", "id": "25056877", "url": "https://glygen.org/publication/PubMed/25056877" }, { "database": "PubMed", "id": "25084011", "url": "https://glygen.org/publication/PubMed/25084011" }, { "database": "PubMed", "id": "25132272", "url": "https://glygen.org/publication/PubMed/25132272" }, { "database": "PubMed", "id": "25162417", "url": "https://glygen.org/publication/PubMed/25162417" }, { "database": "PubMed", "id": "25214523", "url": "https://glygen.org/publication/PubMed/25214523" }, { "database": "PubMed", "id": "25221930", "url": "https://glygen.org/publication/PubMed/25221930" }, { "database": "PubMed", "id": "25332884", "url": "https://glygen.org/publication/PubMed/25332884" }, { "database": "PubMed", "id": "25336920", "url": "https://glygen.org/publication/PubMed/25336920" }, { "database": "PubMed", "id": "25377878", "url": "https://glygen.org/publication/PubMed/25377878" }, { "database": "PubMed", "id": "25379771", "url": "https://glygen.org/publication/PubMed/25379771" }, { "database": "PubMed", "id": "25394413", "url": "https://glygen.org/publication/PubMed/25394413" }, { "database": "PubMed", "id": "25398386", "url": "https://glygen.org/publication/PubMed/25398386" }, { "database": "PubMed", "id": "25415296", "url": "https://glygen.org/publication/PubMed/25415296" }, { "database": "PubMed", "id": "25463972", "url": "https://glygen.org/publication/PubMed/25463972" }, { "database": "PubMed", "id": "25531328", "url": "https://glygen.org/publication/PubMed/25531328" }, { "database": "PubMed", "id": "25546475", "url": "https://glygen.org/publication/PubMed/25546475" }, { "database": "PubMed", "id": "25558238", "url": "https://glygen.org/publication/PubMed/25558238" }, { "database": "PubMed", "id": "25568666", "url": "https://glygen.org/publication/PubMed/25568666" }, { "database": "PubMed", "id": "25594415", "url": "https://glygen.org/publication/PubMed/25594415" }, { "database": "PubMed", "id": "25606824", "url": "https://glygen.org/publication/PubMed/25606824" }, { "database": "PubMed", "id": "25646773", "url": "https://glygen.org/publication/PubMed/25646773" }, { "database": "PubMed", "id": "25752217", "url": "https://glygen.org/publication/PubMed/25752217" }, { "database": "PubMed", "id": "25780086", "url": "https://glygen.org/publication/PubMed/25780086" }, { "database": "PubMed", "id": "25790465", "url": "https://glygen.org/publication/PubMed/25790465" }, { "database": "PubMed", "id": "25799367", "url": "https://glygen.org/publication/PubMed/25799367" }, { "database": "PubMed", "id": "25808491", "url": "https://glygen.org/publication/PubMed/25808491" }, { "database": "PubMed", "id": "25826077", "url": "https://glygen.org/publication/PubMed/25826077" }, { "database": "PubMed", "id": "25826083", "url": "https://glygen.org/publication/PubMed/25826083" }, { "database": "PubMed", "id": "25853295", "url": "https://glygen.org/publication/PubMed/25853295" }, { "database": "PubMed", "id": "25880554", "url": "https://glygen.org/publication/PubMed/25880554" }, { "database": "PubMed", "id": "25888638", "url": "https://glygen.org/publication/PubMed/25888638" }, { "database": "PubMed", "id": "26121028", "url": "https://glygen.org/publication/PubMed/26121028" }, { "database": "PubMed", "id": "26249804", "url": "https://glygen.org/publication/PubMed/26249804" }, { "database": "PubMed", "id": "26263164", "url": "https://glygen.org/publication/PubMed/26263164" }, { "database": "PubMed", "id": "26278110", "url": "https://glygen.org/publication/PubMed/26278110" }, { "database": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" }, { "database": "PubMed", "id": "26438830", "url": "https://glygen.org/publication/PubMed/26438830" }, { "database": "PubMed", "id": "26491103", "url": "https://glygen.org/publication/PubMed/26491103" }, { "database": "PubMed", "id": "26503303", "url": "https://glygen.org/publication/PubMed/26503303" }, { "database": "PubMed", "id": "26503641", "url": "https://glygen.org/publication/PubMed/26503641" }, { "database": "PubMed", "id": "26553931", "url": "https://glygen.org/publication/PubMed/26553931" }, { "database": "PubMed", "id": "26554359", "url": "https://glygen.org/publication/PubMed/26554359" }, { "database": "PubMed", "id": "26687764", "url": "https://glygen.org/publication/PubMed/26687764" }, { "database": "PubMed", "id": "26720454", "url": "https://glygen.org/publication/PubMed/26720454" }, { "database": "PubMed", "id": "26743335", "url": "https://glygen.org/publication/PubMed/26743335" }, { "database": "PubMed", "id": "26809587", "url": "https://glygen.org/publication/PubMed/26809587" }, { "database": "PubMed", "id": "26813160", "url": "https://glygen.org/publication/PubMed/26813160" }, { "database": "PubMed", "id": "26872208", "url": "https://glygen.org/publication/PubMed/26872208" }, { "database": "PubMed", "id": "26876212", "url": "https://glygen.org/publication/PubMed/26876212" }, { "database": "PubMed", "id": "26880110", "url": "https://glygen.org/publication/PubMed/26880110" }, { "database": "PubMed", "id": "26909311", "url": "https://glygen.org/publication/PubMed/26909311" }, { "database": "PubMed", "id": "26928911", "url": "https://glygen.org/publication/PubMed/26928911" }, { "database": "PubMed", "id": "26959121", "url": "https://glygen.org/publication/PubMed/26959121" }, { "database": "PubMed", "id": "27000529", "url": "https://glygen.org/publication/PubMed/27000529" }, { "database": "PubMed", "id": "27001940", "url": "https://glygen.org/publication/PubMed/27001940" }, { "database": "PubMed", "id": "27009084", "url": "https://glygen.org/publication/PubMed/27009084" }, { "database": "PubMed", "id": "27070899", "url": "https://glygen.org/publication/PubMed/27070899" }, { "database": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" }, { "database": "PubMed", "id": "27127181", "url": "https://glygen.org/publication/PubMed/27127181" }, { "database": "PubMed", "id": "27167344", "url": "https://glygen.org/publication/PubMed/27167344" }, { "database": "PubMed", "id": "27176481", "url": "https://glygen.org/publication/PubMed/27176481" }, { "database": "PubMed", "id": "27197158", "url": "https://glygen.org/publication/PubMed/27197158" }, { "database": "PubMed", "id": "27226588", "url": "https://glygen.org/publication/PubMed/27226588" }, { "database": "PubMed", "id": "27248324", "url": "https://glygen.org/publication/PubMed/27248324" }, { "database": "PubMed", "id": "27253992", "url": "https://glygen.org/publication/PubMed/27253992" }, { "database": "PubMed", "id": "27257474", "url": "https://glygen.org/publication/PubMed/27257474" }, { "database": "PubMed", "id": "27344443", "url": "https://glygen.org/publication/PubMed/27344443" }, { "database": "PubMed", "id": "27384491", "url": "https://glygen.org/publication/PubMed/27384491" }, { "database": "PubMed", "id": "27412013", "url": "https://glygen.org/publication/PubMed/27412013" }, { "database": "PubMed", "id": "27477105", "url": "https://glygen.org/publication/PubMed/27477105" }, { "database": "PubMed", "id": "27485212", "url": "https://glygen.org/publication/PubMed/27485212" }, { "database": "PubMed", "id": "27534430", "url": "https://glygen.org/publication/PubMed/27534430" }, { "database": "PubMed", "id": "27542970", "url": "https://glygen.org/publication/PubMed/27542970" }, { "database": "PubMed", "id": "27689988", "url": "https://glygen.org/publication/PubMed/27689988" }, { "database": "PubMed", "id": "27734117", "url": "https://glygen.org/publication/PubMed/27734117" }, { "database": "PubMed", "id": "27765055", "url": "https://glygen.org/publication/PubMed/27765055" }, { "database": "PubMed", "id": "27876711", "url": "https://glygen.org/publication/PubMed/27876711" }, { "database": "PubMed", "id": "27893783", "url": "https://glygen.org/publication/PubMed/27893783" }, { "database": "PubMed", "id": "28018219", "url": "https://glygen.org/publication/PubMed/28018219" }, { "database": "PubMed", "id": "28086800", "url": "https://glygen.org/publication/PubMed/28086800" }, { "database": "PubMed", "id": "28123341", "url": "https://glygen.org/publication/PubMed/28123341" }, { "database": "PubMed", "id": "28123943", "url": "https://glygen.org/publication/PubMed/28123943" }, { "database": "PubMed", "id": "28152035", "url": "https://glygen.org/publication/PubMed/28152035" }, { "database": "PubMed", "id": "28209968", "url": "https://glygen.org/publication/PubMed/28209968" }, { "database": "PubMed", "id": "28225038", "url": "https://glygen.org/publication/PubMed/28225038" }, { "database": "PubMed", "id": "28243164", "url": "https://glygen.org/publication/PubMed/28243164" }, { "database": "PubMed", "id": "28264587", "url": "https://glygen.org/publication/PubMed/28264587" }, { "database": "PubMed", "id": "28294959", "url": "https://glygen.org/publication/PubMed/28294959" }, { "database": "PubMed", "id": "28322786", "url": "https://glygen.org/publication/PubMed/28322786" }, { "database": "PubMed", "id": "28346493", "url": "https://glygen.org/publication/PubMed/28346493" }, { "database": "PubMed", "id": "28350865", "url": "https://glygen.org/publication/PubMed/28350865" }, { "database": "PubMed", "id": "28368423", "url": "https://glygen.org/publication/PubMed/28368423" }, { "database": "PubMed", "id": "28386126", "url": "https://glygen.org/publication/PubMed/28386126" }, { "database": "PubMed", "id": "28395173", "url": "https://glygen.org/publication/PubMed/28395173" }, { "database": "PubMed", "id": "28424421", "url": "https://glygen.org/publication/PubMed/28424421" }, { "database": "PubMed", "id": "28426713", "url": "https://glygen.org/publication/PubMed/28426713" }, { "database": "PubMed", "id": "28440748", "url": "https://glygen.org/publication/PubMed/28440748" }, { "database": "PubMed", "id": "28560349", "url": "https://glygen.org/publication/PubMed/28560349" }, { "database": "PubMed", "id": "28591208", "url": "https://glygen.org/publication/PubMed/28591208" }, { "database": "PubMed", "id": "28665395", "url": "https://glygen.org/publication/PubMed/28665395" }, { "database": "PubMed", "id": "28759639", "url": "https://glygen.org/publication/PubMed/28759639" }, { "database": "PubMed", "id": "28821740", "url": "https://glygen.org/publication/PubMed/28821740" }, { "database": "PubMed", "id": "28874678", "url": "https://glygen.org/publication/PubMed/28874678" }, { "database": "PubMed", "id": "28875936", "url": "https://glygen.org/publication/PubMed/28875936" }, { "database": "PubMed", "id": "28878342", "url": "https://glygen.org/publication/PubMed/28878342" }, { "database": "PubMed", "id": "28883758", "url": "https://glygen.org/publication/PubMed/28883758" }, { "database": "PubMed", "id": "28933316", "url": "https://glygen.org/publication/PubMed/28933316" }, { "database": "PubMed", "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868" }, { "database": "PubMed", "id": "29057818", "url": "https://glygen.org/publication/PubMed/29057818" }, { "database": "PubMed", "id": "29109428", "url": "https://glygen.org/publication/PubMed/29109428" }, { "database": "PubMed", "id": "29118722", "url": "https://glygen.org/publication/PubMed/29118722" }, { "database": "PubMed", "id": "29121094", "url": "https://glygen.org/publication/PubMed/29121094" }, { "database": "PubMed", "id": "29159980", "url": "https://glygen.org/publication/PubMed/29159980" }, { "database": "PubMed", "id": "29180704", "url": "https://glygen.org/publication/PubMed/29180704" }, { "database": "PubMed", "id": "29184057", "url": "https://glygen.org/publication/PubMed/29184057" }, { "database": "PubMed", "id": "29241457", "url": "https://glygen.org/publication/PubMed/29241457" }, { "database": "PubMed", "id": "29311937", "url": "https://glygen.org/publication/PubMed/29311937" }, { "database": "PubMed", "id": "29358916", "url": "https://glygen.org/publication/PubMed/29358916" }, { "database": "PubMed", "id": "29433422", "url": "https://glygen.org/publication/PubMed/29433422" }, { "database": "PubMed", "id": "29453154", "url": "https://glygen.org/publication/PubMed/29453154" }, { "database": "PubMed", "id": "29472543", "url": "https://glygen.org/publication/PubMed/29472543" }, { "database": "PubMed", "id": "29487597", "url": "https://glygen.org/publication/PubMed/29487597" }, { "database": "PubMed", "id": "29494346", "url": "https://glygen.org/publication/PubMed/29494346" }, { "database": "PubMed", "id": "29500670", "url": "https://glygen.org/publication/PubMed/29500670" }, { "database": "PubMed", "id": "29535623", "url": "https://glygen.org/publication/PubMed/29535623" }, { "database": "PubMed", "id": "29560100", "url": "https://glygen.org/publication/PubMed/29560100" }, { "database": "PubMed", "id": "29662189", "url": "https://glygen.org/publication/PubMed/29662189" }, { "database": "PubMed", "id": "29700562", "url": "https://glygen.org/publication/PubMed/29700562" }, { "database": "PubMed", "id": "29725001", "url": "https://glygen.org/publication/PubMed/29725001" }, { "database": "PubMed", "id": "29769144", "url": "https://glygen.org/publication/PubMed/29769144" }, { "database": "PubMed", "id": "29853881", "url": "https://glygen.org/publication/PubMed/29853881" }, { "database": "PubMed", "id": "29855474", "url": "https://glygen.org/publication/PubMed/29855474" }, { "database": "PubMed", "id": "29860106", "url": "https://glygen.org/publication/PubMed/29860106" }, { "database": "PubMed", "id": "29867489", "url": "https://glygen.org/publication/PubMed/29867489" }, { "database": "PubMed", "id": "29872253", "url": "https://glygen.org/publication/PubMed/29872253" }, { "database": "PubMed", "id": "29920520", "url": "https://glygen.org/publication/PubMed/29920520" }, { "database": "PubMed", "id": "29930536", "url": "https://glygen.org/publication/PubMed/29930536" }, { "database": "PubMed", "id": "29962852", "url": "https://glygen.org/publication/PubMed/29962852" }, { "database": "PubMed", "id": "30018139", "url": "https://glygen.org/publication/PubMed/30018139" }, { "database": "PubMed", "id": "30065170", "url": "https://glygen.org/publication/PubMed/30065170" }, { "database": "PubMed", "id": "30103648", "url": "https://glygen.org/publication/PubMed/30103648" }, { "database": "PubMed", "id": "30211334", "url": "https://glygen.org/publication/PubMed/30211334" }, { "database": "PubMed", "id": "30237867", "url": "https://glygen.org/publication/PubMed/30237867" }, { "database": "PubMed", "id": "30279732", "url": "https://glygen.org/publication/PubMed/30279732" }, { "database": "PubMed", "id": "30384400", "url": "https://glygen.org/publication/PubMed/30384400" }, { "database": "PubMed", "id": "30391964", "url": "https://glygen.org/publication/PubMed/30391964" }, { "database": "PubMed", "id": "30413815", "url": "https://glygen.org/publication/PubMed/30413815" }, { "database": "PubMed", "id": "30429249", "url": "https://glygen.org/publication/PubMed/30429249" }, { "database": "PubMed", "id": "30442153", "url": "https://glygen.org/publication/PubMed/30442153" }, { "database": "PubMed", "id": "30578122", "url": "https://glygen.org/publication/PubMed/30578122" }, { "database": "PubMed", "id": "30635036", "url": "https://glygen.org/publication/PubMed/30635036" }, { "database": "PubMed", "id": "30696333", "url": "https://glygen.org/publication/PubMed/30696333" }, { "database": "PubMed", "id": "30823934", "url": "https://glygen.org/publication/PubMed/30823934" }, { "database": "PubMed", "id": "30988282", "url": "https://glygen.org/publication/PubMed/30988282" }, { "database": "PubMed", "id": "31112530", "url": "https://glygen.org/publication/PubMed/31112530" }, { "database": "PubMed", "id": "31141608", "url": "https://glygen.org/publication/PubMed/31141608" }, { "database": "PubMed", "id": "31182807", "url": "https://glygen.org/publication/PubMed/31182807" }, { "database": "PubMed", "id": "31246957", "url": "https://glygen.org/publication/PubMed/31246957" }, { "database": "PubMed", "id": "31307481", "url": "https://glygen.org/publication/PubMed/31307481" }, { "database": "PubMed", "id": "31337981", "url": "https://glygen.org/publication/PubMed/31337981" }, { "database": "PubMed", "id": "31398213", "url": "https://glygen.org/publication/PubMed/31398213" }, { "database": "PubMed", "id": "31399584", "url": "https://glygen.org/publication/PubMed/31399584" }, { "database": "PubMed", "id": "31420304", "url": "https://glygen.org/publication/PubMed/31420304" }, { "database": "PubMed", "id": "31470507", "url": "https://glygen.org/publication/PubMed/31470507" }, { "database": "PubMed", "id": "31474552", "url": "https://glygen.org/publication/PubMed/31474552" }, { "database": "PubMed", "id": "31534518", "url": "https://glygen.org/publication/PubMed/31534518" }, { "database": "PubMed", "id": "31570855", "url": "https://glygen.org/publication/PubMed/31570855" }, { "database": "PubMed", "id": "31614949", "url": "https://glygen.org/publication/PubMed/31614949" }, { "database": "PubMed", "id": "31652791", "url": "https://glygen.org/publication/PubMed/31652791" }, { "database": "PubMed", "id": "31767175", "url": "https://glygen.org/publication/PubMed/31767175" }, { "database": "PubMed", "id": "31767180", "url": "https://glygen.org/publication/PubMed/31767180" }, { "database": "PubMed", "id": "31918924", "url": "https://glygen.org/publication/PubMed/31918924" }, { "database": "PubMed", "id": "31924750", "url": "https://glygen.org/publication/PubMed/31924750" }, { "database": "PubMed", "id": "31949275", "url": "https://glygen.org/publication/PubMed/31949275" }, { "database": "PubMed", "id": "32046324", "url": "https://glygen.org/publication/PubMed/32046324" }, { "database": "PubMed", "id": "32075060", "url": "https://glygen.org/publication/PubMed/32075060" }, { "database": "PubMed", "id": "32101748", "url": "https://glygen.org/publication/PubMed/32101748" }, { "database": "PubMed", "id": "32153410", "url": "https://glygen.org/publication/PubMed/32153410" }, { "database": "PubMed", "id": "32163656", "url": "https://glygen.org/publication/PubMed/32163656" }, { "database": "PubMed", "id": "32194423", "url": "https://glygen.org/publication/PubMed/32194423" }, { "database": "PubMed", "id": "32312949", "url": "https://glygen.org/publication/PubMed/32312949" }, { "database": "PubMed", "id": "32366272", "url": "https://glygen.org/publication/PubMed/32366272" }, { "database": "PubMed", "id": "32373532", "url": "https://glygen.org/publication/PubMed/32373532" }, { "database": "PubMed", "id": "32422541", "url": "https://glygen.org/publication/PubMed/32422541" }, { "database": "PubMed", "id": "32483262", "url": "https://glygen.org/publication/PubMed/32483262" }, { "database": "PubMed", "id": "32493400", "url": "https://glygen.org/publication/PubMed/32493400" }, { "database": "PubMed", "id": "32518366", "url": "https://glygen.org/publication/PubMed/32518366" }, { "database": "PubMed", "id": "32566257", "url": "https://glygen.org/publication/PubMed/32566257" }, { "database": "PubMed", "id": "32641498", "url": "https://glygen.org/publication/PubMed/32641498" }, { "database": "PubMed", "id": "32728173", "url": "https://glygen.org/publication/PubMed/32728173" }, { "database": "PubMed", "id": "32783890", "url": "https://glygen.org/publication/PubMed/32783890" }, { "database": "PubMed", "id": "32796834", "url": "https://glygen.org/publication/PubMed/32796834" }, { "database": "PubMed", "id": "32859869", "url": "https://glygen.org/publication/PubMed/32859869" }, { "database": "PubMed", "id": "33012785", "url": "https://glygen.org/publication/PubMed/33012785" }, { "database": "PubMed", "id": "33038070", "url": "https://glygen.org/publication/PubMed/33038070" }, { "database": "PubMed", "id": "33071755", "url": "https://glygen.org/publication/PubMed/33071755" }, { "database": "PubMed", "id": "33177089", "url": "https://glygen.org/publication/PubMed/33177089" }, { "database": "PubMed", "id": "33184378", "url": "https://glygen.org/publication/PubMed/33184378" }, { "database": "PubMed", "id": "33184414", "url": "https://glygen.org/publication/PubMed/33184414" }, { "database": "PubMed", "id": "33210868", "url": "https://glygen.org/publication/PubMed/33210868" }, { "database": "PubMed", "id": "33214645", "url": "https://glygen.org/publication/PubMed/33214645" }, { "database": "PubMed", "id": "33226552", "url": "https://glygen.org/publication/PubMed/33226552" }, { "database": "PubMed", "id": "33275593", "url": "https://glygen.org/publication/PubMed/33275593" }, { "database": "PubMed", "id": "33348907", "url": "https://glygen.org/publication/PubMed/33348907" }, { "database": "PubMed", "id": "33413592", "url": "https://glygen.org/publication/PubMed/33413592" }, { "database": "PubMed", "id": "33414476", "url": "https://glygen.org/publication/PubMed/33414476" }, { "database": "PubMed", "id": "33435535", "url": "https://glygen.org/publication/PubMed/33435535" }, { "database": "PubMed", "id": "33486894", "url": "https://glygen.org/publication/PubMed/33486894" }, { "database": "PubMed", "id": "33500390", "url": "https://glygen.org/publication/PubMed/33500390" }, { "database": "PubMed", "id": "33595435", "url": "https://glygen.org/publication/PubMed/33595435" }, { "database": "PubMed", "id": "33629064", "url": "https://glygen.org/publication/PubMed/33629064" }, { "database": "PubMed", "id": "33633735", "url": "https://glygen.org/publication/PubMed/33633735" }, { "database": "PubMed", "id": "33649479", "url": "https://glygen.org/publication/PubMed/33649479" }, { "database": "PubMed", "id": "33669811", "url": "https://glygen.org/publication/PubMed/33669811" }, { "database": "PubMed", "id": "33869980", "url": "https://glygen.org/publication/PubMed/33869980" }, { "database": "PubMed", "id": "33897895", "url": "https://glygen.org/publication/PubMed/33897895" }, { "database": "PubMed", "id": "33931442", "url": "https://glygen.org/publication/PubMed/33931442" }, { "database": "PubMed", "id": "33941789", "url": "https://glygen.org/publication/PubMed/33941789" }, { "database": "PubMed", "id": "33993653", "url": "https://glygen.org/publication/PubMed/33993653" }, { "database": "PubMed", "id": "34366869", "url": "https://glygen.org/publication/PubMed/34366869" }, { "database": "PubMed", "id": "35122865", "url": "https://glygen.org/publication/PubMed/35122865" }, { "database": "PubMed", "id": "35224167", "url": "https://glygen.org/publication/PubMed/35224167" }, { "database": "PubMed", "id": "35477177", "url": "https://glygen.org/publication/PubMed/35477177" }, { "database": "PubMed", "id": "35748215", "url": "https://glygen.org/publication/PubMed/35748215" }, { "database": "PubMed", "id": "36148310", "url": "https://glygen.org/publication/PubMed/36148310" }, { "database": "PubMed", "id": "36198369", "url": "https://glygen.org/publication/PubMed/36198369" }, { "database": "PubMed", "id": "36297523", "url": "https://glygen.org/publication/PubMed/36297523" }, { "database": "PubMed", "id": "36405694", "url": "https://glygen.org/publication/PubMed/36405694" }, { "database": "PubMed", "id": "9927197", "url": "https://glygen.org/publication/PubMed/9927197" }, { "database": "PubMed", "id": "18288188", "url": "https://glygen.org/publication/PubMed/18288188" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" }, { "database": "PubMed", "id": "15753085", "url": "https://glygen.org/publication/PubMed/15753085" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect ubiquitination by ZNRF1.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "22057101", "url": "https://glygen.org/publication/PubMed/22057101" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Thr312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 312, "start_aa": "Thr", "end_pos": 312, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr312", "evidence": [ { "id": "P31750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31750#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "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": 430, "start_aa": "Thr", "end_pos": 430, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr430", "evidence": [ { "id": "24526702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24526702" }, { "id": "P31750", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31750" }, { "id": "33915326", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33915326" }, { "id": "18570920", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18570920" }, { "id": "26866564", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26866564" }, { "id": "30031227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30031227" }, { "id": "23793825", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23793825" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" }, { "id": "P31750", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31750" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 430, "start_aa": "Thr", "end_pos": 430, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr430", "evidence": [ { "id": "24526702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24526702" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "24526702", "url": "https://glygen.org/publication/PubMed/24526702" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ser473", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 473, "start_aa": "Ser", "end_pos": 473, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser473", "evidence": [ { "id": "P31750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31750#ptm_processing" }, { "id": "18570920", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18570920" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P97313-1", "kinase_gene_name": "Prkdc", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "28209968", "url": "https://glygen.org/publication/PubMed/28209968" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PRO", "id": "P31750", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "27994061", "url": "https://glygen.org/publication/PubMed/27994061" }, { "database": "PubMed", "id": "31915252", "url": "https://glygen.org/publication/PubMed/31915252" }, { "database": "PubMed", "id": "10438924", "url": "https://glygen.org/publication/PubMed/10438924" }, { "database": "PubMed", "id": "10597260", "url": "https://glygen.org/publication/PubMed/10597260" }, { "database": "PubMed", "id": "10714768", "url": "https://glygen.org/publication/PubMed/10714768" }, { "database": "PubMed", "id": "10747954", "url": "https://glygen.org/publication/PubMed/10747954" }, { "database": "PubMed", "id": "10811865", "url": "https://glygen.org/publication/PubMed/10811865" }, { "database": "PubMed", "id": "10969078", "url": "https://glygen.org/publication/PubMed/10969078" }, { "database": "PubMed", "id": "10974038", "url": "https://glygen.org/publication/PubMed/10974038" }, { "database": "PubMed", "id": "11006271", "url": "https://glygen.org/publication/PubMed/11006271" }, { "database": "PubMed", "id": "11018758", "url": "https://glygen.org/publication/PubMed/11018758" }, { "database": "PubMed", "id": "11062251", "url": "https://glygen.org/publication/PubMed/11062251" }, { "database": "PubMed", "id": "11507090", "url": "https://glygen.org/publication/PubMed/11507090" }, { "database": "PubMed", "id": "11563975", "url": "https://glygen.org/publication/PubMed/11563975" }, { "database": "PubMed", "id": "11571285", "url": "https://glygen.org/publication/PubMed/11571285" }, { "database": "PubMed", "id": "11740206", "url": "https://glygen.org/publication/PubMed/11740206" }, { "database": "PubMed", "id": "11950275", "url": "https://glygen.org/publication/PubMed/11950275" }, { "database": "PubMed", "id": "12153489", "url": "https://glygen.org/publication/PubMed/12153489" }, { "database": "PubMed", "id": "12190109", "url": "https://glygen.org/publication/PubMed/12190109" }, { "database": "PubMed", "id": "12464394", "url": "https://glygen.org/publication/PubMed/12464394" }, { "database": "PubMed", "id": "12493740", "url": "https://glygen.org/publication/PubMed/12493740" }, { "database": "PubMed", "id": "12529330", "url": "https://glygen.org/publication/PubMed/12529330" }, { "database": "PubMed", "id": "12633505", "url": "https://glygen.org/publication/PubMed/12633505" }, { "database": "PubMed", "id": "12637511", "url": "https://glygen.org/publication/PubMed/12637511" }, { "database": "PubMed", "id": "12875741", "url": "https://glygen.org/publication/PubMed/12875741" }, { "database": "PubMed", "id": "12911789", "url": "https://glygen.org/publication/PubMed/12911789" }, { "database": "PubMed", "id": "12947100", "url": "https://glygen.org/publication/PubMed/12947100" }, { "database": "PubMed", "id": "14581607", "url": "https://glygen.org/publication/PubMed/14581607" }, { "database": "PubMed", "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261" }, { "database": "PubMed", "id": "14623889", "url": "https://glygen.org/publication/PubMed/14623889" }, { "database": "PubMed", "id": "14657000", "url": "https://glygen.org/publication/PubMed/14657000" }, { "database": "PubMed", "id": "14997210", "url": "https://glygen.org/publication/PubMed/14997210" }, { "database": "PubMed", "id": "15067018", "url": "https://glygen.org/publication/PubMed/15067018" }, { "database": "PubMed", "id": "15070431", "url": "https://glygen.org/publication/PubMed/15070431" }, { "database": "PubMed", "id": "15278907", "url": "https://glygen.org/publication/PubMed/15278907" }, { "database": "PubMed", "id": "15389876", "url": "https://glygen.org/publication/PubMed/15389876" }, { "database": "PubMed", "id": "15504738", "url": "https://glygen.org/publication/PubMed/15504738" }, { "database": "PubMed", "id": "15505117", "url": "https://glygen.org/publication/PubMed/15505117" }, { "database": "PubMed", "id": "15517884", "url": "https://glygen.org/publication/PubMed/15517884" }, { "database": "PubMed", "id": "15550174", "url": "https://glygen.org/publication/PubMed/15550174" }, { "database": "PubMed", "id": "15591229", "url": "https://glygen.org/publication/PubMed/15591229" }, { "database": "PubMed", "id": "15692086", "url": "https://glygen.org/publication/PubMed/15692086" }, { "database": "PubMed", "id": "15842198", "url": "https://glygen.org/publication/PubMed/15842198" }, { "database": "PubMed", "id": "15845623", "url": "https://glygen.org/publication/PubMed/15845623" }, { "database": "PubMed", "id": "15920762", "url": "https://glygen.org/publication/PubMed/15920762" }, { "database": "PubMed", "id": "15935620", "url": "https://glygen.org/publication/PubMed/15935620" }, { "database": "PubMed", "id": "15987432", "url": "https://glygen.org/publication/PubMed/15987432" }, { "database": "PubMed", "id": "16180585", "url": "https://glygen.org/publication/PubMed/16180585" }, { "database": "PubMed", "id": "16314534", "url": "https://glygen.org/publication/PubMed/16314534" }, { "database": "PubMed", "id": "16338928", "url": "https://glygen.org/publication/PubMed/16338928" }, { "database": "PubMed", "id": "16338957", "url": "https://glygen.org/publication/PubMed/16338957" }, { "database": "PubMed", "id": "16397046", "url": "https://glygen.org/publication/PubMed/16397046" }, { "database": "PubMed", "id": "16489037", "url": "https://glygen.org/publication/PubMed/16489037" }, { "database": "PubMed", "id": "16512910", "url": "https://glygen.org/publication/PubMed/16512910" }, { "database": "PubMed", "id": "16618793", "url": "https://glygen.org/publication/PubMed/16618793" }, { "database": "PubMed", "id": "16787946", "url": "https://glygen.org/publication/PubMed/16787946" }, { "database": "PubMed", "id": "16809629", "url": "https://glygen.org/publication/PubMed/16809629" }, { "database": "PubMed", "id": "16831409", "url": "https://glygen.org/publication/PubMed/16831409" }, { "database": "PubMed", "id": "16845229", "url": "https://glygen.org/publication/PubMed/16845229" }, { "database": "PubMed", "id": "16872509", "url": "https://glygen.org/publication/PubMed/16872509" }, { "database": "PubMed", "id": "17000928", "url": "https://glygen.org/publication/PubMed/17000928" }, { "database": "PubMed", "id": "17190838", "url": "https://glygen.org/publication/PubMed/17190838" }, { "database": "PubMed", "id": "17195063", "url": "https://glygen.org/publication/PubMed/17195063" }, { "database": "PubMed", "id": "17210832", "url": "https://glygen.org/publication/PubMed/17210832" }, { "database": "PubMed", "id": "17220321", "url": "https://glygen.org/publication/PubMed/17220321" }, { "database": "PubMed", "id": "17359956", "url": "https://glygen.org/publication/PubMed/17359956" }, { "database": "PubMed", "id": "17409645", "url": "https://glygen.org/publication/PubMed/17409645" }, { "database": "PubMed", "id": "17482757", "url": "https://glygen.org/publication/PubMed/17482757" }, { "database": "PubMed", "id": "17629407", "url": "https://glygen.org/publication/PubMed/17629407" }, { "database": "PubMed", "id": "17634444", "url": "https://glygen.org/publication/PubMed/17634444" }, { "database": "PubMed", "id": "17761767", "url": "https://glygen.org/publication/PubMed/17761767" }, { "database": "PubMed", "id": "17924178", "url": "https://glygen.org/publication/PubMed/17924178" }, { "database": "PubMed", "id": "17960162", "url": "https://glygen.org/publication/PubMed/17960162" }, { "database": "PubMed", "id": "17967879", "url": "https://glygen.org/publication/PubMed/17967879" }, { "database": "PubMed", "id": "17977562", "url": "https://glygen.org/publication/PubMed/17977562" }, { "database": "PubMed", "id": "17981597", "url": "https://glygen.org/publication/PubMed/17981597" }, { "database": "PubMed", "id": "18034303", "url": "https://glygen.org/publication/PubMed/18034303" }, { "database": "PubMed", "id": "18086904", "url": "https://glygen.org/publication/PubMed/18086904" }, { "database": "PubMed", "id": "18171481", "url": "https://glygen.org/publication/PubMed/18171481" }, { "database": "PubMed", "id": "18177853", "url": "https://glygen.org/publication/PubMed/18177853" }, { "database": "PubMed", "id": "18198353", "url": "https://glygen.org/publication/PubMed/18198353" }, { "database": "PubMed", "id": "18209096", "url": "https://glygen.org/publication/PubMed/18209096" }, { "database": "PubMed", "id": "18241357", "url": "https://glygen.org/publication/PubMed/18241357" }, { "database": "PubMed", "id": "18276828", "url": "https://glygen.org/publication/PubMed/18276828" }, { "database": "PubMed", "id": "18288891", "url": "https://glygen.org/publication/PubMed/18288891" }, { "database": "PubMed", "id": "18332223", "url": "https://glygen.org/publication/PubMed/18332223" }, { "database": "PubMed", "id": "18350159", "url": "https://glygen.org/publication/PubMed/18350159" }, { "database": "PubMed", "id": "18391484", "url": "https://glygen.org/publication/PubMed/18391484" }, { "database": "PubMed", "id": "18405384", "url": "https://glygen.org/publication/PubMed/18405384" }, { "database": "PubMed", "id": "18411306", "url": "https://glygen.org/publication/PubMed/18411306" }, { "database": "PubMed", "id": "18461163", "url": "https://glygen.org/publication/PubMed/18461163" }, { "database": "PubMed", "id": "18523362", "url": "https://glygen.org/publication/PubMed/18523362" }, { "database": "PubMed", "id": "18566543", "url": "https://glygen.org/publication/PubMed/18566543" }, { "database": "PubMed", "id": "18570920", "url": "https://glygen.org/publication/PubMed/18570920" }, { "database": "PubMed", "id": "18714386", "url": "https://glygen.org/publication/PubMed/18714386" }, { "database": "PubMed", "id": "18718531", "url": "https://glygen.org/publication/PubMed/18718531" }, { "database": "PubMed", "id": "18757368", "url": "https://glygen.org/publication/PubMed/18757368" }, { "database": "PubMed", "id": "18952837", "url": "https://glygen.org/publication/PubMed/18952837" }, { "database": "PubMed", "id": "19013131", "url": "https://glygen.org/publication/PubMed/19013131" }, { "database": "PubMed", "id": "19033447", "url": "https://glygen.org/publication/PubMed/19033447" }, { "database": "PubMed", "id": "19066318", "url": "https://glygen.org/publication/PubMed/19066318" }, { "database": "PubMed", "id": "19077278", "url": "https://glygen.org/publication/PubMed/19077278" }, { "database": "PubMed", "id": "19136654", "url": "https://glygen.org/publication/PubMed/19136654" }, { "database": "PubMed", "id": "19246681", "url": "https://glygen.org/publication/PubMed/19246681" }, { "database": "PubMed", "id": "19289601", "url": "https://glygen.org/publication/PubMed/19289601" }, { "database": "PubMed", "id": "19291319", "url": "https://glygen.org/publication/PubMed/19291319" }, { "database": "PubMed", "id": "19365570", "url": "https://glygen.org/publication/PubMed/19365570" }, { "database": "PubMed", "id": "19369943", "url": "https://glygen.org/publication/PubMed/19369943" }, { "database": "PubMed", "id": "19416348", "url": "https://glygen.org/publication/PubMed/19416348" }, { "database": "PubMed", "id": "19432987", "url": "https://glygen.org/publication/PubMed/19432987" }, { "database": "PubMed", "id": "19434632", "url": "https://glygen.org/publication/PubMed/19434632" }, { "database": "PubMed", "id": "19497867", "url": "https://glygen.org/publication/PubMed/19497867" }, { "database": "PubMed", "id": "19502418", "url": "https://glygen.org/publication/PubMed/19502418" }, { "database": "PubMed", "id": "19570880", "url": "https://glygen.org/publication/PubMed/19570880" }, { "database": "PubMed", "id": "19587782", "url": "https://glygen.org/publication/PubMed/19587782" }, { "database": "PubMed", "id": "19627269", "url": "https://glygen.org/publication/PubMed/19627269" }, { "database": "PubMed", "id": "19693287", "url": "https://glygen.org/publication/PubMed/19693287" }, { "database": "PubMed", "id": "19721331", "url": "https://glygen.org/publication/PubMed/19721331" }, { "database": "PubMed", "id": "19731018", "url": "https://glygen.org/publication/PubMed/19731018" }, { "database": "PubMed", "id": "19745829", "url": "https://glygen.org/publication/PubMed/19745829" }, { "database": "PubMed", "id": "19761830", "url": "https://glygen.org/publication/PubMed/19761830" }, { "database": "PubMed", "id": "19844585", "url": "https://glygen.org/publication/PubMed/19844585" }, { "database": "PubMed", "id": "19847197", "url": "https://glygen.org/publication/PubMed/19847197" }, { "database": "PubMed", "id": "19879746", "url": "https://glygen.org/publication/PubMed/19879746" }, { "database": "PubMed", "id": "20022531", "url": "https://glygen.org/publication/PubMed/20022531" }, { "database": "PubMed", "id": "20028942", "url": "https://glygen.org/publication/PubMed/20028942" }, { "database": "PubMed", "id": "20053680", "url": "https://glygen.org/publication/PubMed/20053680" }, { "database": "PubMed", "id": "20103705", "url": "https://glygen.org/publication/PubMed/20103705" }, { "database": "PubMed", "id": "20154728", "url": "https://glygen.org/publication/PubMed/20154728" }, { "database": "PubMed", "id": "20174568", "url": "https://glygen.org/publication/PubMed/20174568" }, { "database": "PubMed", "id": "20174572", "url": "https://glygen.org/publication/PubMed/20174572" }, { "database": "PubMed", "id": "20177806", "url": "https://glygen.org/publication/PubMed/20177806" }, { "database": "PubMed", "id": "20179101", "url": "https://glygen.org/publication/PubMed/20179101" }, { "database": "PubMed", "id": "20179753", "url": "https://glygen.org/publication/PubMed/20179753" }, { "database": "PubMed", "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" }, { "database": "PubMed", "id": "20338882", "url": "https://glygen.org/publication/PubMed/20338882" }, { "database": "PubMed", "id": "20362052", "url": "https://glygen.org/publication/PubMed/20362052" }, { "database": "PubMed", "id": "20363892", "url": "https://glygen.org/publication/PubMed/20363892" }, { "database": "PubMed", "id": "20501873", "url": "https://glygen.org/publication/PubMed/20501873" }, { "database": "PubMed", "id": "20520761", "url": "https://glygen.org/publication/PubMed/20520761" }, { "database": "PubMed", "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991" }, { "database": "PubMed", "id": "20554973", "url": "https://glygen.org/publication/PubMed/20554973" }, { "database": "PubMed", "id": "20576936", "url": "https://glygen.org/publication/PubMed/20576936" }, { "database": "PubMed", "id": "20586915", "url": "https://glygen.org/publication/PubMed/20586915" }, { "database": "PubMed", "id": "20587420", "url": "https://glygen.org/publication/PubMed/20587420" }, { "database": "PubMed", "id": "20622167", "url": "https://glygen.org/publication/PubMed/20622167" }, { "database": "PubMed", "id": "20624888", "url": "https://glygen.org/publication/PubMed/20624888" }, { "database": "PubMed", "id": "20705918", "url": "https://glygen.org/publication/PubMed/20705918" }, { "database": "PubMed", "id": "20719961", "url": "https://glygen.org/publication/PubMed/20719961" }, { "database": "PubMed", "id": "20806112", "url": "https://glygen.org/publication/PubMed/20806112" }, { "database": "PubMed", "id": "20811625", "url": "https://glygen.org/publication/PubMed/20811625" }, { "database": "PubMed", "id": "20813836", "url": "https://glygen.org/publication/PubMed/20813836" }, { "database": "PubMed", "id": "20837912", "url": "https://glygen.org/publication/PubMed/20837912" }, { "database": "PubMed", "id": "20847051", "url": "https://glygen.org/publication/PubMed/20847051" }, { "database": "PubMed", "id": "20856813", "url": "https://glygen.org/publication/PubMed/20856813" }, { "database": "PubMed", "id": "20936097", "url": "https://glygen.org/publication/PubMed/20936097" }, { "database": "PubMed", "id": "20976192", "url": "https://glygen.org/publication/PubMed/20976192" }, { "database": "PubMed", "id": "21029370", "url": "https://glygen.org/publication/PubMed/21029370" }, { "database": "PubMed", "id": "21106850", "url": "https://glygen.org/publication/PubMed/21106850" }, { "database": "PubMed", "id": "21266327", "url": "https://glygen.org/publication/PubMed/21266327" }, { "database": "PubMed", "id": "21279323", "url": "https://glygen.org/publication/PubMed/21279323" }, { "database": "PubMed", "id": "21283589", "url": "https://glygen.org/publication/PubMed/21283589" }, { "database": "PubMed", "id": "21407213", "url": "https://glygen.org/publication/PubMed/21407213" }, { "database": "PubMed", "id": "21408125", "url": "https://glygen.org/publication/PubMed/21408125" }, { "database": "PubMed", "id": "21423211", "url": "https://glygen.org/publication/PubMed/21423211" }, { "database": "PubMed", "id": "21479224", "url": "https://glygen.org/publication/PubMed/21479224" }, { "database": "PubMed", "id": "21511697", "url": "https://glygen.org/publication/PubMed/21511697" }, { "database": "PubMed", "id": "21600784", "url": "https://glygen.org/publication/PubMed/21600784" }, { "database": "PubMed", "id": "21617181", "url": "https://glygen.org/publication/PubMed/21617181" }, { "database": "PubMed", "id": "21637761", "url": "https://glygen.org/publication/PubMed/21637761" }, { "database": "PubMed", "id": "21655268", "url": "https://glygen.org/publication/PubMed/21655268" }, { "database": "PubMed", "id": "21670491", "url": "https://glygen.org/publication/PubMed/21670491" }, { "database": "PubMed", "id": "21847101", "url": "https://glygen.org/publication/PubMed/21847101" }, { "database": "PubMed", "id": "21850156", "url": "https://glygen.org/publication/PubMed/21850156" }, { "database": "PubMed", "id": "21927580", "url": "https://glygen.org/publication/PubMed/21927580" }, { "database": "PubMed", "id": "21993375", "url": "https://glygen.org/publication/PubMed/21993375" }, { "database": "PubMed", "id": "22019461", "url": "https://glygen.org/publication/PubMed/22019461" }, { "database": "PubMed", "id": "22028912", "url": "https://glygen.org/publication/PubMed/22028912" }, { "database": "PubMed", "id": "22057724", "url": "https://glygen.org/publication/PubMed/22057724" }, { "database": "PubMed", "id": "22095470", "url": "https://glygen.org/publication/PubMed/22095470" }, { "database": "PubMed", "id": "22117619", "url": "https://glygen.org/publication/PubMed/22117619" }, { "database": "PubMed", "id": "22132131", "url": "https://glygen.org/publication/PubMed/22132131" }, { "database": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" }, { "database": "PubMed", "id": "22187375", "url": "https://glygen.org/publication/PubMed/22187375" }, { "database": "PubMed", "id": "22188815", "url": "https://glygen.org/publication/PubMed/22188815" }, { "database": "PubMed", "id": "22195016", "url": "https://glygen.org/publication/PubMed/22195016" }, { "database": "PubMed", "id": "22203870", "url": "https://glygen.org/publication/PubMed/22203870" }, { "database": "PubMed", "id": "22218715", "url": "https://glygen.org/publication/PubMed/22218715" }, { "database": "PubMed", "id": "22238573", "url": "https://glygen.org/publication/PubMed/22238573" }, { "database": "PubMed", "id": "22249311", "url": "https://glygen.org/publication/PubMed/22249311" }, { "database": "PubMed", "id": "22253608", "url": "https://glygen.org/publication/PubMed/22253608" }, { "database": "PubMed", "id": "22344295", "url": "https://glygen.org/publication/PubMed/22344295" }, { "database": "PubMed", "id": "22363451", "url": "https://glygen.org/publication/PubMed/22363451" }, { "database": "PubMed", "id": "22382990", "url": "https://glygen.org/publication/PubMed/22382990" }, { "database": "PubMed", "id": "22412835", "url": "https://glygen.org/publication/PubMed/22412835" }, { "database": "PubMed", "id": "22412882", "url": "https://glygen.org/publication/PubMed/22412882" }, { "database": "PubMed", "id": "22469977", "url": "https://glygen.org/publication/PubMed/22469977" }, { "database": "PubMed", "id": "22471389", "url": "https://glygen.org/publication/PubMed/22471389" }, { "database": "PubMed", "id": "22496778", "url": "https://glygen.org/publication/PubMed/22496778" }, { "database": "PubMed", "id": "22516386", "url": "https://glygen.org/publication/PubMed/22516386" }, { "database": "PubMed", "id": "22521878", "url": "https://glygen.org/publication/PubMed/22521878" }, { "database": "PubMed", "id": "22532369", "url": "https://glygen.org/publication/PubMed/22532369" }, { "database": "PubMed", "id": "22559167", "url": "https://glygen.org/publication/PubMed/22559167" }, { "database": "PubMed", "id": "22563011", "url": "https://glygen.org/publication/PubMed/22563011" }, { "database": "PubMed", "id": "22563417", "url": "https://glygen.org/publication/PubMed/22563417" }, { "database": "PubMed", "id": "22581458", "url": "https://glygen.org/publication/PubMed/22581458" }, { "database": "PubMed", "id": "22586587", "url": "https://glygen.org/publication/PubMed/22586587" }, { "database": "PubMed", "id": "22590527", "url": "https://glygen.org/publication/PubMed/22590527" }, { "database": "PubMed", "id": "22606274", "url": "https://glygen.org/publication/PubMed/22606274" }, { "database": "PubMed", "id": "22622501", "url": "https://glygen.org/publication/PubMed/22622501" }, { "database": "PubMed", "id": "22652602", "url": "https://glygen.org/publication/PubMed/22652602" }, { "database": "PubMed", "id": "22681587", "url": "https://glygen.org/publication/PubMed/22681587" }, { "database": "PubMed", "id": "22693641", "url": "https://glygen.org/publication/PubMed/22693641" }, { "database": "PubMed", "id": "22733590", "url": "https://glygen.org/publication/PubMed/22733590" }, { "database": "PubMed", "id": "22734004", "url": "https://glygen.org/publication/PubMed/22734004" }, { "database": "PubMed", "id": "22768110", "url": "https://glygen.org/publication/PubMed/22768110" }, { "database": "PubMed", "id": "22773877", "url": "https://glygen.org/publication/PubMed/22773877" }, { "database": "PubMed", "id": "22792172", "url": "https://glygen.org/publication/PubMed/22792172" }, { "database": "PubMed", "id": "22832498", "url": "https://glygen.org/publication/PubMed/22832498" }, { "database": "PubMed", "id": "22850125", "url": "https://glygen.org/publication/PubMed/22850125" }, { "database": "PubMed", "id": "22859500", "url": "https://glygen.org/publication/PubMed/22859500" }, { "database": "PubMed", "id": "22869525", "url": "https://glygen.org/publication/PubMed/22869525" }, { "database": "PubMed", "id": "22900024", "url": "https://glygen.org/publication/PubMed/22900024" }, { "database": "PubMed", "id": "22910893", "url": "https://glygen.org/publication/PubMed/22910893" }, { "database": "PubMed", "id": "22933110", "url": "https://glygen.org/publication/PubMed/22933110" }, { "database": "PubMed", "id": "22934083", "url": "https://glygen.org/publication/PubMed/22934083" }, { "database": "PubMed", "id": "22936801", "url": "https://glygen.org/publication/PubMed/22936801" }, { "database": "PubMed", "id": "22941977", "url": "https://glygen.org/publication/PubMed/22941977" }, { "database": "PubMed", "id": "22952890", "url": "https://glygen.org/publication/PubMed/22952890" }, { "database": "PubMed", "id": "23029230", "url": "https://glygen.org/publication/PubMed/23029230" }, { "database": "PubMed", "id": "23049865", "url": "https://glygen.org/publication/PubMed/23049865" }, { "database": "PubMed", "id": "23071621", "url": "https://glygen.org/publication/PubMed/23071621" }, { "database": "PubMed", "id": "23082110", "url": "https://glygen.org/publication/PubMed/23082110" }, { "database": "PubMed", "id": "23100026", "url": "https://glygen.org/publication/PubMed/23100026" }, { "database": "PubMed", "id": "23133640", "url": "https://glygen.org/publication/PubMed/23133640" }, { "database": "PubMed", "id": "23188702", "url": "https://glygen.org/publication/PubMed/23188702" }, { "database": "PubMed", "id": "23227273", "url": "https://glygen.org/publication/PubMed/23227273" }, { "database": "PubMed", "id": "23236519", "url": "https://glygen.org/publication/PubMed/23236519" }, { "database": "PubMed", "id": "23239877", "url": "https://glygen.org/publication/PubMed/23239877" }, { "database": "PubMed", "id": "23251389", "url": "https://glygen.org/publication/PubMed/23251389" }, { "database": "PubMed", "id": "23251519", "url": "https://glygen.org/publication/PubMed/23251519" }, { "database": "PubMed", "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339" }, { "database": "PubMed", "id": "23311350", "url": "https://glygen.org/publication/PubMed/23311350" }, { "database": "PubMed", "id": "23369342", "url": "https://glygen.org/publication/PubMed/23369342" }, { "database": "PubMed", "id": "23382716", "url": "https://glygen.org/publication/PubMed/23382716" }, { "database": "PubMed", "id": "23386984", "url": "https://glygen.org/publication/PubMed/23386984" }, { "database": "PubMed", "id": "23390495", "url": "https://glygen.org/publication/PubMed/23390495" }, { "database": "PubMed", "id": "23393595", "url": "https://glygen.org/publication/PubMed/23393595" }, { "database": "PubMed", "id": "23409704", "url": "https://glygen.org/publication/PubMed/23409704" }, { "database": "PubMed", "id": "23443503", "url": "https://glygen.org/publication/PubMed/23443503" }, { "database": "PubMed", "id": "23444402", "url": "https://glygen.org/publication/PubMed/23444402" }, { "database": "PubMed", "id": "23451056", "url": "https://glygen.org/publication/PubMed/23451056" }, { "database": "PubMed", "id": "23469174", "url": "https://glygen.org/publication/PubMed/23469174" }, { "database": "PubMed", "id": "23469261", "url": "https://glygen.org/publication/PubMed/23469261" }, { "database": "PubMed", "id": "23478138", "url": "https://glygen.org/publication/PubMed/23478138" }, { "database": "PubMed", "id": "23489026", "url": "https://glygen.org/publication/PubMed/23489026" }, { "database": "PubMed", "id": "23493568", "url": "https://glygen.org/publication/PubMed/23493568" }, { "database": "PubMed", "id": "23504323", "url": "https://glygen.org/publication/PubMed/23504323" }, { "database": "PubMed", "id": "23519033", "url": "https://glygen.org/publication/PubMed/23519033" }, { "database": "PubMed", "id": "23520131", "url": "https://glygen.org/publication/PubMed/23520131" }, { "database": "PubMed", "id": "23554947", "url": "https://glygen.org/publication/PubMed/23554947" }, { "database": "PubMed", "id": "23584725", "url": "https://glygen.org/publication/PubMed/23584725" }, { "database": "PubMed", "id": "23593332", "url": "https://glygen.org/publication/PubMed/23593332" }, { "database": "PubMed", "id": "23596176", "url": "https://glygen.org/publication/PubMed/23596176" }, { "database": "PubMed", "id": "23598407", "url": "https://glygen.org/publication/PubMed/23598407" }, { "database": "PubMed", "id": "23649820", "url": "https://glygen.org/publication/PubMed/23649820" }, { "database": "PubMed", "id": "23671593", "url": "https://glygen.org/publication/PubMed/23671593" }, { "database": "PubMed", "id": "23702782", "url": "https://glygen.org/publication/PubMed/23702782" }, { "database": "PubMed", "id": "23713790", "url": "https://glygen.org/publication/PubMed/23713790" }, { "database": "PubMed", "id": "23716717", "url": "https://glygen.org/publication/PubMed/23716717" }, { "database": "PubMed", "id": "23734002", "url": "https://glygen.org/publication/PubMed/23734002" }, { "database": "PubMed", "id": "23748360", "url": "https://glygen.org/publication/PubMed/23748360" }, { "database": "PubMed", "id": "23805205", "url": "https://glygen.org/publication/PubMed/23805205" }, { "database": "PubMed", "id": "23818862", "url": "https://glygen.org/publication/PubMed/23818862" }, { "database": "PubMed", "id": "23826249", "url": "https://glygen.org/publication/PubMed/23826249" }, { "database": "PubMed", "id": "23868942", "url": "https://glygen.org/publication/PubMed/23868942" }, { "database": "PubMed", "id": "23874604", "url": "https://glygen.org/publication/PubMed/23874604" }, { "database": "PubMed", "id": "23907468", "url": "https://glygen.org/publication/PubMed/23907468" }, { "database": "PubMed", "id": "23935891", "url": "https://glygen.org/publication/PubMed/23935891" }, { "database": "PubMed", "id": "23964069", "url": "https://glygen.org/publication/PubMed/23964069" }, { "database": "PubMed", "id": "23965299", "url": "https://glygen.org/publication/PubMed/23965299" }, { "database": "PubMed", "id": "24008733", "url": "https://glygen.org/publication/PubMed/24008733" }, { "database": "PubMed", "id": "24052072", "url": "https://glygen.org/publication/PubMed/24052072" }, { "database": "PubMed", "id": "24052499", "url": "https://glygen.org/publication/PubMed/24052499" }, { "database": "PubMed", "id": "24067903", "url": "https://glygen.org/publication/PubMed/24067903" }, { "database": "PubMed", "id": "24068327", "url": "https://glygen.org/publication/PubMed/24068327" }, { "database": "PubMed", "id": "24068707", "url": "https://glygen.org/publication/PubMed/24068707" }, { "database": "PubMed", "id": "24090638", "url": "https://glygen.org/publication/PubMed/24090638" }, { "database": "PubMed", "id": "24101676", "url": "https://glygen.org/publication/PubMed/24101676" }, { "database": "PubMed", "id": "24116102", "url": "https://glygen.org/publication/PubMed/24116102" }, { "database": "PubMed", "id": "24142192", "url": "https://glygen.org/publication/PubMed/24142192" }, { "database": "PubMed", "id": "24149114", "url": "https://glygen.org/publication/PubMed/24149114" }, { "database": "PubMed", "id": "24150605", "url": "https://glygen.org/publication/PubMed/24150605" }, { "database": "PubMed", "id": "24156551", "url": "https://glygen.org/publication/PubMed/24156551" }, { "database": "PubMed", "id": "24223757", "url": "https://glygen.org/publication/PubMed/24223757" }, { "database": "PubMed", "id": "24260338", "url": "https://glygen.org/publication/PubMed/24260338" }, { "database": "PubMed", "id": "24280377", "url": "https://glygen.org/publication/PubMed/24280377" }, { "database": "PubMed", "id": "24280772", "url": "https://glygen.org/publication/PubMed/24280772" }, { "database": "PubMed", "id": "24286194", "url": "https://glygen.org/publication/PubMed/24286194" }, { "database": "PubMed", "id": "24296537", "url": "https://glygen.org/publication/PubMed/24296537" }, { "database": "PubMed", "id": "24334165", "url": "https://glygen.org/publication/PubMed/24334165" }, { "database": "PubMed", "id": "24340073", "url": "https://glygen.org/publication/PubMed/24340073" }, { "database": "PubMed", "id": "24347831", "url": "https://glygen.org/publication/PubMed/24347831" }, { "database": "PubMed", "id": "24349514", "url": "https://glygen.org/publication/PubMed/24349514" }, { "database": "PubMed", "id": "24351823", "url": "https://glygen.org/publication/PubMed/24351823" }, { "database": "PubMed", "id": "24367658", "url": "https://glygen.org/publication/PubMed/24367658" }, { "database": "PubMed", "id": "24387036", "url": "https://glygen.org/publication/PubMed/24387036" }, { "database": "PubMed", "id": "24412630", "url": "https://glygen.org/publication/PubMed/24412630" }, { "database": "PubMed", "id": "24427143", "url": "https://glygen.org/publication/PubMed/24427143" }, { "database": "PubMed", "id": "24434432", "url": "https://glygen.org/publication/PubMed/24434432" }, { "database": "PubMed", "id": "24435134", "url": "https://glygen.org/publication/PubMed/24435134" }, { "database": "PubMed", "id": "24505362", "url": "https://glygen.org/publication/PubMed/24505362" }, { "database": "PubMed", "id": "24516630", "url": "https://glygen.org/publication/PubMed/24516630" }, { "database": "PubMed", "id": "24551245", "url": "https://glygen.org/publication/PubMed/24551245" }, { "database": "PubMed", "id": "24557881", "url": "https://glygen.org/publication/PubMed/24557881" }, { "database": "PubMed", "id": "24621388", "url": "https://glygen.org/publication/PubMed/24621388" }, { "database": "PubMed", "id": "24629015", "url": "https://glygen.org/publication/PubMed/24629015" }, { "database": "PubMed", "id": "24632620", "url": "https://glygen.org/publication/PubMed/24632620" }, { "database": "PubMed", "id": "24647338", "url": "https://glygen.org/publication/PubMed/24647338" }, { "database": "PubMed", "id": "24649407", "url": "https://glygen.org/publication/PubMed/24649407" }, { "database": "PubMed", "id": "24662050", "url": "https://glygen.org/publication/PubMed/24662050" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" }, { "database": "PubMed", "id": "24675832", "url": "https://glygen.org/publication/PubMed/24675832" }, { "database": "PubMed", "id": "24708830", "url": "https://glygen.org/publication/PubMed/24708830" }, { "database": "PubMed", "id": "24722238", "url": "https://glygen.org/publication/PubMed/24722238" }, { "database": "PubMed", "id": "24734904", "url": "https://glygen.org/publication/PubMed/24734904" }, { "database": "PubMed", "id": "24740015", "url": "https://glygen.org/publication/PubMed/24740015" }, { "database": "PubMed", "id": "24742286", "url": "https://glygen.org/publication/PubMed/24742286" }, { "database": "PubMed", "id": "24746698", "url": "https://glygen.org/publication/PubMed/24746698" }, { "database": "PubMed", "id": "24757676", "url": "https://glygen.org/publication/PubMed/24757676" }, { "database": "PubMed", "id": "24760979", "url": "https://glygen.org/publication/PubMed/24760979" }, { "database": "PubMed", "id": "24763529", "url": "https://glygen.org/publication/PubMed/24763529" }, { "database": "PubMed", "id": "24769205", "url": "https://glygen.org/publication/PubMed/24769205" }, { "database": "PubMed", "id": "24809512", "url": "https://glygen.org/publication/PubMed/24809512" }, { "database": "PubMed", "id": "24810050", "url": "https://glygen.org/publication/PubMed/24810050" }, { "database": "PubMed", "id": "24832603", "url": "https://glygen.org/publication/PubMed/24832603" }, { "database": "PubMed", "id": "24944899", "url": "https://glygen.org/publication/PubMed/24944899" }, { "database": "PubMed", "id": "24945834", "url": "https://glygen.org/publication/PubMed/24945834" }, { "database": "PubMed", "id": "24945938", "url": "https://glygen.org/publication/PubMed/24945938" }, { "database": "PubMed", "id": "24967341", "url": "https://glygen.org/publication/PubMed/24967341" }, { "database": "PubMed", "id": "24985103", "url": "https://glygen.org/publication/PubMed/24985103" }, { "database": "PubMed", "id": "24987368", "url": "https://glygen.org/publication/PubMed/24987368" }, { "database": "PubMed", "id": "25004182", "url": "https://glygen.org/publication/PubMed/25004182" }, { "database": "PubMed", "id": "25004403", "url": "https://glygen.org/publication/PubMed/25004403" }, { "database": "PubMed", "id": "25013446", "url": "https://glygen.org/publication/PubMed/25013446" }, { "database": "PubMed", "id": "25092872", "url": "https://glygen.org/publication/PubMed/25092872" }, { "database": "PubMed", "id": "25132272", "url": "https://glygen.org/publication/PubMed/25132272" }, { "database": "PubMed", "id": "25136373", "url": "https://glygen.org/publication/PubMed/25136373" }, { "database": "PubMed", "id": "25141786", "url": "https://glygen.org/publication/PubMed/25141786" }, { "database": "PubMed", "id": "25162417", "url": "https://glygen.org/publication/PubMed/25162417" }, { "database": "PubMed", "id": "25168244", "url": "https://glygen.org/publication/PubMed/25168244" }, { "database": "PubMed", "id": "25201756", "url": "https://glygen.org/publication/PubMed/25201756" }, { "database": "PubMed", "id": "25214523", "url": "https://glygen.org/publication/PubMed/25214523" }, { "database": "PubMed", "id": "25221930", "url": "https://glygen.org/publication/PubMed/25221930" }, { "database": "PubMed", "id": "25240598", "url": "https://glygen.org/publication/PubMed/25240598" }, { "database": "PubMed", "id": "25258031", "url": "https://glygen.org/publication/PubMed/25258031" }, { "database": "PubMed", "id": "25264192", "url": "https://glygen.org/publication/PubMed/25264192" }, { "database": "PubMed", "id": "25279552", "url": "https://glygen.org/publication/PubMed/25279552" }, { "database": "PubMed", "id": "25280966", "url": "https://glygen.org/publication/PubMed/25280966" }, { "database": "PubMed", "id": "25332884", "url": "https://glygen.org/publication/PubMed/25332884" }, { "database": "PubMed", "id": "25336920", "url": "https://glygen.org/publication/PubMed/25336920" }, { "database": "PubMed", "id": "25347392", "url": "https://glygen.org/publication/PubMed/25347392" }, { "database": "PubMed", "id": "25355398", "url": "https://glygen.org/publication/PubMed/25355398" }, { "database": "PubMed", "id": "25377878", "url": "https://glygen.org/publication/PubMed/25377878" }, { "database": "PubMed", "id": "25379771", "url": "https://glygen.org/publication/PubMed/25379771" }, { "database": "PubMed", "id": "25398386", "url": "https://glygen.org/publication/PubMed/25398386" }, { "database": "PubMed", "id": "25415296", "url": "https://glygen.org/publication/PubMed/25415296" }, { "database": "PubMed", "id": "25416469", "url": "https://glygen.org/publication/PubMed/25416469" }, { "database": "PubMed", "id": "25460003", "url": "https://glygen.org/publication/PubMed/25460003" }, { "database": "PubMed", "id": "25460735", "url": "https://glygen.org/publication/PubMed/25460735" }, { "database": "PubMed", "id": "25466188", "url": "https://glygen.org/publication/PubMed/25466188" }, { "database": "PubMed", "id": "25531328", "url": "https://glygen.org/publication/PubMed/25531328" }, { "database": "PubMed", "id": "25546475", "url": "https://glygen.org/publication/PubMed/25546475" }, { "database": "PubMed", "id": "25564616", "url": "https://glygen.org/publication/PubMed/25564616" }, { "database": "PubMed", "id": "25568666", "url": "https://glygen.org/publication/PubMed/25568666" }, { "database": "PubMed", "id": "25594415", "url": "https://glygen.org/publication/PubMed/25594415" }, { "database": "PubMed", "id": "25635326", "url": "https://glygen.org/publication/PubMed/25635326" }, { "database": "PubMed", "id": "25646773", "url": "https://glygen.org/publication/PubMed/25646773" }, { "database": "PubMed", "id": "25672620", "url": "https://glygen.org/publication/PubMed/25672620" }, { "database": "PubMed", "id": "25714556", "url": "https://glygen.org/publication/PubMed/25714556" }, { "database": "PubMed", "id": "25752217", "url": "https://glygen.org/publication/PubMed/25752217" }, { "database": "PubMed", "id": "25754411", "url": "https://glygen.org/publication/PubMed/25754411" }, { "database": "PubMed", "id": "25775433", "url": "https://glygen.org/publication/PubMed/25775433" }, { "database": "PubMed", "id": "25790465", "url": "https://glygen.org/publication/PubMed/25790465" }, { "database": "PubMed", "id": "25799367", "url": "https://glygen.org/publication/PubMed/25799367" }, { "database": "PubMed", "id": "25808491", "url": "https://glygen.org/publication/PubMed/25808491" }, { "database": "PubMed", "id": "25826740", "url": "https://glygen.org/publication/PubMed/25826740" }, { "database": "PubMed", "id": "25839650", "url": "https://glygen.org/publication/PubMed/25839650" }, { "database": "PubMed", "id": "25853295", "url": "https://glygen.org/publication/PubMed/25853295" }, { "database": "PubMed", "id": "25880554", "url": "https://glygen.org/publication/PubMed/25880554" }, { "database": "PubMed", "id": "25888638", "url": "https://glygen.org/publication/PubMed/25888638" }, { "database": "PubMed", "id": "25889002", "url": "https://glygen.org/publication/PubMed/25889002" }, { "database": "PubMed", "id": "25902782", "url": "https://glygen.org/publication/PubMed/25902782" }, { "database": "PubMed", "id": "25960827", "url": "https://glygen.org/publication/PubMed/25960827" }, { "database": "PubMed", "id": "25965336", "url": "https://glygen.org/publication/PubMed/25965336" }, { "database": "PubMed", "id": "25965947", "url": "https://glygen.org/publication/PubMed/25965947" }, { "database": "PubMed", "id": "25968579", "url": "https://glygen.org/publication/PubMed/25968579" }, { "database": "PubMed", "id": "25991723", "url": "https://glygen.org/publication/PubMed/25991723" }, { "database": "PubMed", "id": "26000908", "url": "https://glygen.org/publication/PubMed/26000908" }, { "database": "PubMed", "id": "26023930", "url": "https://glygen.org/publication/PubMed/26023930" }, { "database": "PubMed", "id": "26026051", "url": "https://glygen.org/publication/PubMed/26026051" }, { "database": "PubMed", "id": "26070664", "url": "https://glygen.org/publication/PubMed/26070664" }, { "database": "PubMed", "id": "26100075", "url": "https://glygen.org/publication/PubMed/26100075" }, { "database": "PubMed", "id": "26118757", "url": "https://glygen.org/publication/PubMed/26118757" }, { "database": "PubMed", "id": "26121028", "url": "https://glygen.org/publication/PubMed/26121028" }, { "database": "PubMed", "id": "26132202", "url": "https://glygen.org/publication/PubMed/26132202" }, { "database": "PubMed", "id": "26135741", "url": "https://glygen.org/publication/PubMed/26135741" }, { "database": "PubMed", "id": "26249804", "url": "https://glygen.org/publication/PubMed/26249804" }, { "database": "PubMed", "id": "26254337", "url": "https://glygen.org/publication/PubMed/26254337" }, { "database": "PubMed", "id": "26263164", "url": "https://glygen.org/publication/PubMed/26263164" }, { "database": "PubMed", "id": "26278110", "url": "https://glygen.org/publication/PubMed/26278110" }, { "database": "PubMed", "id": "26287667", "url": "https://glygen.org/publication/PubMed/26287667" }, { "database": "PubMed", "id": "26299806", "url": "https://glygen.org/publication/PubMed/26299806" }, { "database": "PubMed", "id": "26325184", "url": "https://glygen.org/publication/PubMed/26325184" }, { "database": "PubMed", "id": "26340932", "url": "https://glygen.org/publication/PubMed/26340932" }, { "database": "PubMed", "id": "26383267", "url": "https://glygen.org/publication/PubMed/26383267" }, { "database": "PubMed", "id": "26407610", "url": "https://glygen.org/publication/PubMed/26407610" }, { "database": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" }, { "database": "PubMed", "id": "26454089", "url": "https://glygen.org/publication/PubMed/26454089" }, { "database": "PubMed", "id": "26459601", "url": "https://glygen.org/publication/PubMed/26459601" }, { "database": "PubMed", "id": "26512452", "url": "https://glygen.org/publication/PubMed/26512452" }, { "database": "PubMed", "id": "26523428", "url": "https://glygen.org/publication/PubMed/26523428" }, { "database": "PubMed", "id": "26539824", "url": "https://glygen.org/publication/PubMed/26539824" }, { "database": "PubMed", "id": "26553931", "url": "https://glygen.org/publication/PubMed/26553931" }, { "database": "PubMed", "id": "26597054", "url": "https://glygen.org/publication/PubMed/26597054" }, { "database": "PubMed", "id": "26720454", "url": "https://glygen.org/publication/PubMed/26720454" }, { "database": "PubMed", "id": "26723251", "url": "https://glygen.org/publication/PubMed/26723251" }, { "database": "PubMed", "id": "26728896", "url": "https://glygen.org/publication/PubMed/26728896" }, { "database": "PubMed", "id": "26743335", "url": "https://glygen.org/publication/PubMed/26743335" }, { "database": "PubMed", "id": "26801880", "url": "https://glygen.org/publication/PubMed/26801880" }, { "database": "PubMed", "id": "26809587", "url": "https://glygen.org/publication/PubMed/26809587" }, { "database": "PubMed", "id": "26822343", "url": "https://glygen.org/publication/PubMed/26822343" }, { "database": "PubMed", "id": "26830849", "url": "https://glygen.org/publication/PubMed/26830849" }, { "database": "PubMed", "id": "26836389", "url": "https://glygen.org/publication/PubMed/26836389" }, { "database": "PubMed", "id": "26844697", "url": "https://glygen.org/publication/PubMed/26844697" }, { "database": "PubMed", "id": "26876212", "url": "https://glygen.org/publication/PubMed/26876212" }, { "database": "PubMed", "id": "26880110", "url": "https://glygen.org/publication/PubMed/26880110" }, { "database": "PubMed", "id": "26907332", "url": "https://glygen.org/publication/PubMed/26907332" }, { "database": "PubMed", "id": "26909311", "url": "https://glygen.org/publication/PubMed/26909311" }, { "database": "PubMed", "id": "26928911", "url": "https://glygen.org/publication/PubMed/26928911" }, { "database": "PubMed", "id": "26933812", "url": "https://glygen.org/publication/PubMed/26933812" }, { "database": "PubMed", "id": "26936863", "url": "https://glygen.org/publication/PubMed/26936863" }, { "database": "PubMed", "id": "26959121", "url": "https://glygen.org/publication/PubMed/26959121" }, { "database": "PubMed", "id": "26984741", "url": "https://glygen.org/publication/PubMed/26984741" }, { "database": "PubMed", "id": "27000529", "url": "https://glygen.org/publication/PubMed/27000529" }, { "database": "PubMed", "id": "27001940", "url": "https://glygen.org/publication/PubMed/27001940" }, { "database": "PubMed", "id": "27009084", "url": "https://glygen.org/publication/PubMed/27009084" }, { "database": "PubMed", "id": "27019366", "url": "https://glygen.org/publication/PubMed/27019366" }, { "database": "PubMed", "id": "27050278", "url": "https://glygen.org/publication/PubMed/27050278" }, { "database": "PubMed", "id": "27050422", "url": "https://glygen.org/publication/PubMed/27050422" }, { "database": "PubMed", "id": "27070899", "url": "https://glygen.org/publication/PubMed/27070899" }, { "database": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" }, { "database": "PubMed", "id": "27106789", "url": "https://glygen.org/publication/PubMed/27106789" }, { "database": "PubMed", "id": "27126782", "url": "https://glygen.org/publication/PubMed/27126782" }, { "database": "PubMed", "id": "27166156", "url": "https://glygen.org/publication/PubMed/27166156" }, { "database": "PubMed", "id": "27167344", "url": "https://glygen.org/publication/PubMed/27167344" }, { "database": "PubMed", "id": "27176481", "url": "https://glygen.org/publication/PubMed/27176481" }, { "database": "PubMed", "id": "27191957", "url": "https://glygen.org/publication/PubMed/27191957" }, { "database": "PubMed", "id": "27197158", "url": "https://glygen.org/publication/PubMed/27197158" }, { "database": "PubMed", "id": "27207782", "url": "https://glygen.org/publication/PubMed/27207782" }, { "database": "PubMed", "id": "27213961", "url": "https://glygen.org/publication/PubMed/27213961" }, { "database": "PubMed", "id": "27226588", "url": "https://glygen.org/publication/PubMed/27226588" }, { "database": "PubMed", "id": "27248324", "url": "https://glygen.org/publication/PubMed/27248324" }, { "database": "PubMed", "id": "27253992", "url": "https://glygen.org/publication/PubMed/27253992" }, { "database": "PubMed", "id": "27257474", "url": "https://glygen.org/publication/PubMed/27257474" }, { "database": "PubMed", "id": "27281705", "url": "https://glygen.org/publication/PubMed/27281705" }, { "database": "PubMed", "id": "27329844", "url": "https://glygen.org/publication/PubMed/27329844" }, { "database": "PubMed", "id": "27335054", "url": "https://glygen.org/publication/PubMed/27335054" }, { "database": "PubMed", "id": "27344443", "url": "https://glygen.org/publication/PubMed/27344443" }, { "database": "PubMed", "id": "27384491", "url": "https://glygen.org/publication/PubMed/27384491" }, { "database": "PubMed", "id": "27412013", "url": "https://glygen.org/publication/PubMed/27412013" }, { "database": "PubMed", "id": "27416746", "url": "https://glygen.org/publication/PubMed/27416746" }, { "database": "PubMed", "id": "27435826", "url": "https://glygen.org/publication/PubMed/27435826" }, { "database": "PubMed", "id": "27457910", "url": "https://glygen.org/publication/PubMed/27457910" }, { "database": "PubMed", "id": "27477105", "url": "https://glygen.org/publication/PubMed/27477105" }, { "database": "PubMed", "id": "27485212", "url": "https://glygen.org/publication/PubMed/27485212" }, { "database": "PubMed", "id": "27518433", "url": "https://glygen.org/publication/PubMed/27518433" }, { "database": "PubMed", "id": "27542970", "url": "https://glygen.org/publication/PubMed/27542970" }, { "database": "PubMed", "id": "27549161", "url": "https://glygen.org/publication/PubMed/27549161" }, { "database": "PubMed", "id": "27562094", "url": "https://glygen.org/publication/PubMed/27562094" }, { "database": "PubMed", "id": "27568979", "url": "https://glygen.org/publication/PubMed/27568979" }, { "database": "PubMed", "id": "27634219", "url": "https://glygen.org/publication/PubMed/27634219" }, { "database": "PubMed", "id": "27689988", "url": "https://glygen.org/publication/PubMed/27689988" }, { "database": "PubMed", "id": "27702567", "url": "https://glygen.org/publication/PubMed/27702567" }, { "database": "PubMed", "id": "27734117", "url": "https://glygen.org/publication/PubMed/27734117" }, { "database": "PubMed", "id": "27765055", "url": "https://glygen.org/publication/PubMed/27765055" }, { "database": "PubMed", "id": "27778132", "url": "https://glygen.org/publication/PubMed/27778132" }, { "database": "PubMed", "id": "27799485", "url": "https://glygen.org/publication/PubMed/27799485" }, { "database": "PubMed", "id": "27849007", "url": "https://glygen.org/publication/PubMed/27849007" }, { "database": "PubMed", "id": "27861634", "url": "https://glygen.org/publication/PubMed/27861634" }, { "database": "PubMed", "id": "27876711", "url": "https://glygen.org/publication/PubMed/27876711" }, { "database": "PubMed", "id": "27876874", "url": "https://glygen.org/publication/PubMed/27876874" }, { "database": "PubMed", "id": "27893783", "url": "https://glygen.org/publication/PubMed/27893783" }, { "database": "PubMed", "id": "27897192", "url": "https://glygen.org/publication/PubMed/27897192" }, { "database": "PubMed", "id": "27897407", "url": "https://glygen.org/publication/PubMed/27897407" }, { "database": "PubMed", "id": "27922594", "url": "https://glygen.org/publication/PubMed/27922594" }, { "database": "PubMed", "id": "27930667", "url": "https://glygen.org/publication/PubMed/27930667" }, { "database": "PubMed", "id": "27935220", "url": "https://glygen.org/publication/PubMed/27935220" }, { "database": "PubMed", "id": "27940127", "url": "https://glygen.org/publication/PubMed/27940127" }, { "database": "PubMed", "id": "27966074", "url": "https://glygen.org/publication/PubMed/27966074" }, { "database": "PubMed", "id": "27980227", "url": "https://glygen.org/publication/PubMed/27980227" }, { "database": "PubMed", "id": "28005008", "url": "https://glygen.org/publication/PubMed/28005008" }, { "database": "PubMed", "id": "28050125", "url": "https://glygen.org/publication/PubMed/28050125" }, { "database": "PubMed", "id": "28107427", "url": "https://glygen.org/publication/PubMed/28107427" }, { "database": "PubMed", "id": "28123341", "url": "https://glygen.org/publication/PubMed/28123341" }, { "database": "PubMed", "id": "28123351", "url": "https://glygen.org/publication/PubMed/28123351" }, { "database": "PubMed", "id": "28123943", "url": "https://glygen.org/publication/PubMed/28123943" }, { "database": "PubMed", "id": "28152035", "url": "https://glygen.org/publication/PubMed/28152035" }, { "database": "PubMed", "id": "28186492", "url": "https://glygen.org/publication/PubMed/28186492" }, { "database": "PubMed", "id": "28209725", "url": "https://glygen.org/publication/PubMed/28209725" }, { "database": "PubMed", "id": "28212537", "url": "https://glygen.org/publication/PubMed/28212537" }, { "database": "PubMed", "id": "28225038", "url": "https://glygen.org/publication/PubMed/28225038" }, { "database": "PubMed", "id": "28230282", "url": "https://glygen.org/publication/PubMed/28230282" }, { "database": "PubMed", "id": "28230856", "url": "https://glygen.org/publication/PubMed/28230856" }, { "database": "PubMed", "id": "28243164", "url": "https://glygen.org/publication/PubMed/28243164" }, { "database": "PubMed", "id": "28264587", "url": "https://glygen.org/publication/PubMed/28264587" }, { "database": "PubMed", "id": "28285180", "url": "https://glygen.org/publication/PubMed/28285180" }, { "database": "PubMed", "id": "28294959", "url": "https://glygen.org/publication/PubMed/28294959" }, { "database": "PubMed", "id": "28298211", "url": "https://glygen.org/publication/PubMed/28298211" }, { "database": "PubMed", "id": "28319140", "url": "https://glygen.org/publication/PubMed/28319140" }, { "database": "PubMed", "id": "28329851", "url": "https://glygen.org/publication/PubMed/28329851" }, { "database": "PubMed", "id": "28331616", "url": "https://glygen.org/publication/PubMed/28331616" }, { "database": "PubMed", "id": "28333124", "url": "https://glygen.org/publication/PubMed/28333124" }, { "database": "PubMed", "id": "28346493", "url": "https://glygen.org/publication/PubMed/28346493" }, { "database": "PubMed", "id": "28350865", "url": "https://glygen.org/publication/PubMed/28350865" }, { "database": "PubMed", "id": "28364027", "url": "https://glygen.org/publication/PubMed/28364027" }, { "database": "PubMed", "id": "28368423", "url": "https://glygen.org/publication/PubMed/28368423" }, { "database": "PubMed", "id": "28373901", "url": "https://glygen.org/publication/PubMed/28373901" }, { "database": "PubMed", "id": "28386126", "url": "https://glygen.org/publication/PubMed/28386126" }, { "database": "PubMed", "id": "28395173", "url": "https://glygen.org/publication/PubMed/28395173" }, { "database": "PubMed", "id": "28424421", "url": "https://glygen.org/publication/PubMed/28424421" }, { "database": "PubMed", "id": "28425986", "url": "https://glygen.org/publication/PubMed/28425986" }, { "database": "PubMed", "id": "28426713", "url": "https://glygen.org/publication/PubMed/28426713" }, { "database": "PubMed", "id": "28440748", "url": "https://glygen.org/publication/PubMed/28440748" }, { "database": "PubMed", "id": "28461774", "url": "https://glygen.org/publication/PubMed/28461774" }, { "database": "PubMed", "id": "28489892", "url": "https://glygen.org/publication/PubMed/28489892" }, { "database": "PubMed", "id": "28490443", "url": "https://glygen.org/publication/PubMed/28490443" }, { "database": "PubMed", "id": "28526415", "url": "https://glygen.org/publication/PubMed/28526415" }, { "database": "PubMed", "id": "28529539", "url": "https://glygen.org/publication/PubMed/28529539" }, { "database": "PubMed", "id": "28539257", "url": "https://glygen.org/publication/PubMed/28539257" }, { "database": "PubMed", "id": "28542434", "url": "https://glygen.org/publication/PubMed/28542434" }, { "database": "PubMed", "id": "28560349", "url": "https://glygen.org/publication/PubMed/28560349" }, { "database": "PubMed", "id": "28591208", "url": "https://glygen.org/publication/PubMed/28591208" }, { "database": "PubMed", "id": "28632169", "url": "https://glygen.org/publication/PubMed/28632169" }, { "database": "PubMed", "id": "28665395", "url": "https://glygen.org/publication/PubMed/28665395" }, { "database": "PubMed", "id": "28675664", "url": "https://glygen.org/publication/PubMed/28675664" }, { "database": "PubMed", "id": "28700632", "url": "https://glygen.org/publication/PubMed/28700632" }, { "database": "PubMed", "id": "28710412", "url": "https://glygen.org/publication/PubMed/28710412" }, { "database": "PubMed", "id": "28745831", "url": "https://glygen.org/publication/PubMed/28745831" }, { "database": "PubMed", "id": "28752031", "url": "https://glygen.org/publication/PubMed/28752031" }, { "database": "PubMed", "id": "28759639", "url": "https://glygen.org/publication/PubMed/28759639" }, { "database": "PubMed", "id": "28783756", "url": "https://glygen.org/publication/PubMed/28783756" }, { "database": "PubMed", "id": "28821740", "url": "https://glygen.org/publication/PubMed/28821740" }, { "database": "PubMed", "id": "28834262", "url": "https://glygen.org/publication/PubMed/28834262" }, { "database": "PubMed", "id": "28835690", "url": "https://glygen.org/publication/PubMed/28835690" }, { "database": "PubMed", "id": "28859155", "url": "https://glygen.org/publication/PubMed/28859155" }, { "database": "PubMed", "id": "28870245", "url": "https://glygen.org/publication/PubMed/28870245" }, { "database": "PubMed", "id": "28874678", "url": "https://glygen.org/publication/PubMed/28874678" }, { "database": "PubMed", "id": "28875936", "url": "https://glygen.org/publication/PubMed/28875936" }, { "database": "PubMed", "id": "28878342", "url": "https://glygen.org/publication/PubMed/28878342" }, { "database": "PubMed", "id": "28883493", "url": "https://glygen.org/publication/PubMed/28883493" }, { "database": "PubMed", "id": "28883758", "url": "https://glygen.org/publication/PubMed/28883758" }, { "database": "PubMed", "id": "28933316", "url": "https://glygen.org/publication/PubMed/28933316" }, { "database": "PubMed", "id": "28962394", "url": "https://glygen.org/publication/PubMed/28962394" }, { "database": "PubMed", "id": "28978011", "url": "https://glygen.org/publication/PubMed/28978011" }, { "database": "PubMed", "id": "28979184", "url": "https://glygen.org/publication/PubMed/28979184" }, { "database": "PubMed", "id": "29035165", "url": "https://glygen.org/publication/PubMed/29035165" }, { "database": "PubMed", "id": "29038536", "url": "https://glygen.org/publication/PubMed/29038536" }, { "database": "PubMed", "id": "29057818", "url": "https://glygen.org/publication/PubMed/29057818" }, { "database": "PubMed", "id": "29085990", "url": "https://glygen.org/publication/PubMed/29085990" }, { "database": "PubMed", "id": "29104499", "url": "https://glygen.org/publication/PubMed/29104499" }, { "database": "PubMed", "id": "29109794", "url": "https://glygen.org/publication/PubMed/29109794" }, { "database": "PubMed", "id": "29118722", "url": "https://glygen.org/publication/PubMed/29118722" }, { "database": "PubMed", "id": "29121094", "url": "https://glygen.org/publication/PubMed/29121094" }, { "database": "PubMed", "id": "29123170", "url": "https://glygen.org/publication/PubMed/29123170" }, { "database": "PubMed", "id": "29133930", "url": "https://glygen.org/publication/PubMed/29133930" }, { "database": "PubMed", "id": "29159980", "url": "https://glygen.org/publication/PubMed/29159980" }, { "database": "PubMed", "id": "29163149", "url": "https://glygen.org/publication/PubMed/29163149" }, { "database": "PubMed", "id": "29170374", "url": "https://glygen.org/publication/PubMed/29170374" }, { "database": "PubMed", "id": "29180704", "url": "https://glygen.org/publication/PubMed/29180704" }, { "database": "PubMed", "id": "29184057", "url": "https://glygen.org/publication/PubMed/29184057" }, { "database": "PubMed", "id": "29223528", "url": "https://glygen.org/publication/PubMed/29223528" }, { "database": "PubMed", "id": "29239329", "url": "https://glygen.org/publication/PubMed/29239329" }, { "database": "PubMed", "id": "29244772", "url": "https://glygen.org/publication/PubMed/29244772" }, { "database": "PubMed", "id": "29247431", "url": "https://glygen.org/publication/PubMed/29247431" }, { "database": "PubMed", "id": "29304075", "url": "https://glygen.org/publication/PubMed/29304075" }, { "database": "PubMed", "id": "29311937", "url": "https://glygen.org/publication/PubMed/29311937" }, { "database": "PubMed", "id": "29364220", "url": "https://glygen.org/publication/PubMed/29364220" }, { "database": "PubMed", "id": "29379062", "url": "https://glygen.org/publication/PubMed/29379062" }, { "database": "PubMed", "id": "29384221", "url": "https://glygen.org/publication/PubMed/29384221" }, { "database": "PubMed", "id": "29402989", "url": "https://glygen.org/publication/PubMed/29402989" }, { "database": "PubMed", "id": "29410630", "url": "https://glygen.org/publication/PubMed/29410630" }, { "database": "PubMed", "id": "29433422", "url": "https://glygen.org/publication/PubMed/29433422" }, { "database": "PubMed", "id": "29453154", "url": "https://glygen.org/publication/PubMed/29453154" }, { "database": "PubMed", "id": "29464929", "url": "https://glygen.org/publication/PubMed/29464929" }, { "database": "PubMed", "id": "29472543", "url": "https://glygen.org/publication/PubMed/29472543" }, { "database": "PubMed", "id": "29486284", "url": "https://glygen.org/publication/PubMed/29486284" }, { "database": "PubMed", "id": "29487597", "url": "https://glygen.org/publication/PubMed/29487597" }, { "database": "PubMed", "id": "29494346", "url": "https://glygen.org/publication/PubMed/29494346" }, { "database": "PubMed", "id": "29495962", "url": "https://glygen.org/publication/PubMed/29495962" }, { "database": "PubMed", "id": "29530069", "url": "https://glygen.org/publication/PubMed/29530069" }, { "database": "PubMed", "id": "29535623", "url": "https://glygen.org/publication/PubMed/29535623" }, { "database": "PubMed", "id": "29535720", "url": "https://glygen.org/publication/PubMed/29535720" }, { "database": "PubMed", "id": "29560100", "url": "https://glygen.org/publication/PubMed/29560100" }, { "database": "PubMed", "id": "29615924", "url": "https://glygen.org/publication/PubMed/29615924" }, { "database": "PubMed", "id": "29657993", "url": "https://glygen.org/publication/PubMed/29657993" }, { "database": "PubMed", "id": "29662189", "url": "https://glygen.org/publication/PubMed/29662189" }, { "database": "PubMed", "id": "29700562", "url": "https://glygen.org/publication/PubMed/29700562" }, { "database": "PubMed", "id": "29720580", "url": "https://glygen.org/publication/PubMed/29720580" }, { "database": "PubMed", "id": "29725001", "url": "https://glygen.org/publication/PubMed/29725001" }, { "database": "PubMed", "id": "29748608", "url": "https://glygen.org/publication/PubMed/29748608" }, { "database": "PubMed", "id": "29763645", "url": "https://glygen.org/publication/PubMed/29763645" }, { "database": "PubMed", "id": "29769144", "url": "https://glygen.org/publication/PubMed/29769144" }, { "database": "PubMed", "id": "29775456", "url": "https://glygen.org/publication/PubMed/29775456" }, { "database": "PubMed", "id": "29853881", "url": "https://glygen.org/publication/PubMed/29853881" }, { "database": "PubMed", "id": "29855474", "url": "https://glygen.org/publication/PubMed/29855474" }, { "database": "PubMed", "id": "29860106", "url": "https://glygen.org/publication/PubMed/29860106" }, { "database": "PubMed", "id": "29867489", "url": "https://glygen.org/publication/PubMed/29867489" }, { "database": "PubMed", "id": "29872253", "url": "https://glygen.org/publication/PubMed/29872253" }, { "database": "PubMed", "id": "29920520", "url": "https://glygen.org/publication/PubMed/29920520" }, { "database": "PubMed", "id": "29930536", "url": "https://glygen.org/publication/PubMed/29930536" }, { "database": "PubMed", "id": "29962852", "url": "https://glygen.org/publication/PubMed/29962852" }, { "database": "PubMed", "id": "30005372", "url": "https://glygen.org/publication/PubMed/30005372" }, { "database": "PubMed", "id": "30014636", "url": "https://glygen.org/publication/PubMed/30014636" }, { "database": "PubMed", "id": "30018139", "url": "https://glygen.org/publication/PubMed/30018139" }, { "database": "PubMed", "id": "30022023", "url": "https://glygen.org/publication/PubMed/30022023" }, { "database": "PubMed", "id": "30065170", "url": "https://glygen.org/publication/PubMed/30065170" }, { "database": "PubMed", "id": "30078230", "url": "https://glygen.org/publication/PubMed/30078230" }, { "database": "PubMed", "id": "30103648", "url": "https://glygen.org/publication/PubMed/30103648" }, { "database": "PubMed", "id": "30150922", "url": "https://glygen.org/publication/PubMed/30150922" }, { "database": "PubMed", "id": "30156060", "url": "https://glygen.org/publication/PubMed/30156060" }, { "database": "PubMed", "id": "30186439", "url": "https://glygen.org/publication/PubMed/30186439" }, { "database": "PubMed", "id": "30211334", "url": "https://glygen.org/publication/PubMed/30211334" }, { "database": "PubMed", "id": "30231545", "url": "https://glygen.org/publication/PubMed/30231545" }, { "database": "PubMed", "id": "30237867", "url": "https://glygen.org/publication/PubMed/30237867" }, { "database": "PubMed", "id": "30250638", "url": "https://glygen.org/publication/PubMed/30250638" }, { "database": "PubMed", "id": "30279732", "url": "https://glygen.org/publication/PubMed/30279732" }, { "database": "PubMed", "id": "30378754", "url": "https://glygen.org/publication/PubMed/30378754" }, { "database": "PubMed", "id": "30384400", "url": "https://glygen.org/publication/PubMed/30384400" }, { "database": "PubMed", "id": "30391477", "url": "https://glygen.org/publication/PubMed/30391477" }, { "database": "PubMed", "id": "30391964", "url": "https://glygen.org/publication/PubMed/30391964" }, { "database": "PubMed", "id": "30402124", "url": "https://glygen.org/publication/PubMed/30402124" }, { "database": "PubMed", "id": "30409162", "url": "https://glygen.org/publication/PubMed/30409162" }, { "database": "PubMed", "id": "30409503", "url": "https://glygen.org/publication/PubMed/30409503" }, { "database": "PubMed", "id": "30410062", "url": "https://glygen.org/publication/PubMed/30410062" }, { "database": "PubMed", "id": "30414960", "url": "https://glygen.org/publication/PubMed/30414960" }, { "database": "PubMed", "id": "30429249", "url": "https://glygen.org/publication/PubMed/30429249" }, { "database": "PubMed", "id": "30450767", "url": "https://glygen.org/publication/PubMed/30450767" }, { "database": "PubMed", "id": "30509210", "url": "https://glygen.org/publication/PubMed/30509210" }, { "database": "PubMed", "id": "30515090", "url": "https://glygen.org/publication/PubMed/30515090" }, { "database": "PubMed", "id": "30554658", "url": "https://glygen.org/publication/PubMed/30554658" }, { "database": "PubMed", "id": "30556043", "url": "https://glygen.org/publication/PubMed/30556043" }, { "database": "PubMed", "id": "30578122", "url": "https://glygen.org/publication/PubMed/30578122" }, { "database": "PubMed", "id": "30626204", "url": "https://glygen.org/publication/PubMed/30626204" }, { "database": "PubMed", "id": "30635036", "url": "https://glygen.org/publication/PubMed/30635036" }, { "database": "PubMed", "id": "30696333", "url": "https://glygen.org/publication/PubMed/30696333" }, { "database": "PubMed", "id": "30717198", "url": "https://glygen.org/publication/PubMed/30717198" }, { "database": "PubMed", "id": "30806987", "url": "https://glygen.org/publication/PubMed/30806987" }, { "database": "PubMed", "id": "30816216", "url": "https://glygen.org/publication/PubMed/30816216" }, { "database": "PubMed", "id": "30823934", "url": "https://glygen.org/publication/PubMed/30823934" }, { "database": "PubMed", "id": "30862120", "url": "https://glygen.org/publication/PubMed/30862120" }, { "database": "PubMed", "id": "30936879", "url": "https://glygen.org/publication/PubMed/30936879" }, { "database": "PubMed", "id": "30972066", "url": "https://glygen.org/publication/PubMed/30972066" }, { "database": "PubMed", "id": "30988282", "url": "https://glygen.org/publication/PubMed/30988282" }, { "database": "PubMed", "id": "31112530", "url": "https://glygen.org/publication/PubMed/31112530" }, { "database": "PubMed", "id": "31115790", "url": "https://glygen.org/publication/PubMed/31115790" }, { "database": "PubMed", "id": "31125414", "url": "https://glygen.org/publication/PubMed/31125414" }, { "database": "PubMed", "id": "31155593", "url": "https://glygen.org/publication/PubMed/31155593" }, { "database": "PubMed", "id": "31159888", "url": "https://glygen.org/publication/PubMed/31159888" }, { "database": "PubMed", "id": "31161862", "url": "https://glygen.org/publication/PubMed/31161862" }, { "database": "PubMed", "id": "31167373", "url": "https://glygen.org/publication/PubMed/31167373" }, { "database": "PubMed", "id": "31182807", "url": "https://glygen.org/publication/PubMed/31182807" }, { "database": "PubMed", "id": "31182914", "url": "https://glygen.org/publication/PubMed/31182914" }, { "database": "PubMed", "id": "31205503", "url": "https://glygen.org/publication/PubMed/31205503" }, { "database": "PubMed", "id": "31213670", "url": "https://glygen.org/publication/PubMed/31213670" }, { "database": "PubMed", "id": "31215459", "url": "https://glygen.org/publication/PubMed/31215459" }, { "database": "PubMed", "id": "31233346", "url": "https://glygen.org/publication/PubMed/31233346" }, { "database": "PubMed", "id": "31279779", "url": "https://glygen.org/publication/PubMed/31279779" }, { "database": "PubMed", "id": "31307481", "url": "https://glygen.org/publication/PubMed/31307481" }, { "database": "PubMed", "id": "31337981", "url": "https://glygen.org/publication/PubMed/31337981" }, { "database": "PubMed", "id": "31345225", "url": "https://glygen.org/publication/PubMed/31345225" }, { "database": "PubMed", "id": "31366324", "url": "https://glygen.org/publication/PubMed/31366324" }, { "database": "PubMed", "id": "31372175", "url": "https://glygen.org/publication/PubMed/31372175" }, { "database": "PubMed", "id": "31391499", "url": "https://glygen.org/publication/PubMed/31391499" }, { "database": "PubMed", "id": "31398213", "url": "https://glygen.org/publication/PubMed/31398213" }, { "database": "PubMed", "id": "31399584", "url": "https://glygen.org/publication/PubMed/31399584" }, { "database": "PubMed", "id": "31420304", "url": "https://glygen.org/publication/PubMed/31420304" }, { "database": "PubMed", "id": "31447681", "url": "https://glygen.org/publication/PubMed/31447681" }, { "database": "PubMed", "id": "31462256", "url": "https://glygen.org/publication/PubMed/31462256" }, { "database": "PubMed", "id": "31470507", "url": "https://glygen.org/publication/PubMed/31470507" }, { "database": "PubMed", "id": "31519159", "url": "https://glygen.org/publication/PubMed/31519159" }, { "database": "PubMed", "id": "31551760", "url": "https://glygen.org/publication/PubMed/31551760" }, { "database": "PubMed", "id": "31570855", "url": "https://glygen.org/publication/PubMed/31570855" }, { "database": "PubMed", "id": "31572367", "url": "https://glygen.org/publication/PubMed/31572367" }, { "database": "PubMed", "id": "31614949", "url": "https://glygen.org/publication/PubMed/31614949" }, { "database": "PubMed", "id": "31624287", "url": "https://glygen.org/publication/PubMed/31624287" }, { "database": "PubMed", "id": "31652791", "url": "https://glygen.org/publication/PubMed/31652791" }, { "database": "PubMed", "id": "31767175", "url": "https://glygen.org/publication/PubMed/31767175" }, { "database": "PubMed", "id": "31767180", "url": "https://glygen.org/publication/PubMed/31767180" }, { "database": "PubMed", "id": "31771622", "url": "https://glygen.org/publication/PubMed/31771622" }, { "database": "PubMed", "id": "31783835", "url": "https://glygen.org/publication/PubMed/31783835" }, { "database": "PubMed", "id": "31821410", "url": "https://glygen.org/publication/PubMed/31821410" }, { "database": "PubMed", "id": "31827703", "url": "https://glygen.org/publication/PubMed/31827703" }, { "database": "PubMed", "id": "31850494", "url": "https://glygen.org/publication/PubMed/31850494" }, { "database": "PubMed", "id": "31857853", "url": "https://glygen.org/publication/PubMed/31857853" }, { "database": "PubMed", "id": "31903103", "url": "https://glygen.org/publication/PubMed/31903103" }, { "database": "PubMed", "id": "31918917", "url": "https://glygen.org/publication/PubMed/31918917" }, { "database": "PubMed", "id": "31918924", "url": "https://glygen.org/publication/PubMed/31918924" }, { "database": "PubMed", "id": "31924750", "url": "https://glygen.org/publication/PubMed/31924750" }, { "database": "PubMed", "id": "31929511", "url": "https://glygen.org/publication/PubMed/31929511" }, { "database": "PubMed", "id": "31931851", "url": "https://glygen.org/publication/PubMed/31931851" }, { "database": "PubMed", "id": "31959776", "url": "https://glygen.org/publication/PubMed/31959776" }, { "database": "PubMed", "id": "31970200", "url": "https://glygen.org/publication/PubMed/31970200" }, { "database": "PubMed", "id": "31980707", "url": "https://glygen.org/publication/PubMed/31980707" }, { "database": "PubMed", "id": "32038161", "url": "https://glygen.org/publication/PubMed/32038161" }, { "database": "PubMed", "id": "32046324", "url": "https://glygen.org/publication/PubMed/32046324" }, { "database": "PubMed", "id": "32075060", "url": "https://glygen.org/publication/PubMed/32075060" }, { "database": "PubMed", "id": "32079307", "url": "https://glygen.org/publication/PubMed/32079307" }, { "database": "PubMed", "id": "32085796", "url": "https://glygen.org/publication/PubMed/32085796" }, { "database": "PubMed", "id": "32086008", "url": "https://glygen.org/publication/PubMed/32086008" }, { "database": "PubMed", "id": "32101748", "url": "https://glygen.org/publication/PubMed/32101748" }, { "database": "PubMed", "id": "32127592", "url": "https://glygen.org/publication/PubMed/32127592" }, { "database": "PubMed", "id": "32131762", "url": "https://glygen.org/publication/PubMed/32131762" }, { "database": "PubMed", "id": "32153410", "url": "https://glygen.org/publication/PubMed/32153410" }, { "database": "PubMed", "id": "32163656", "url": "https://glygen.org/publication/PubMed/32163656" }, { "database": "PubMed", "id": "32173345", "url": "https://glygen.org/publication/PubMed/32173345" }, { "database": "PubMed", "id": "32194423", "url": "https://glygen.org/publication/PubMed/32194423" }, { "database": "PubMed", "id": "32198214", "url": "https://glygen.org/publication/PubMed/32198214" }, { "database": "PubMed", "id": "32275682", "url": "https://glygen.org/publication/PubMed/32275682" }, { "database": "PubMed", "id": "32276588", "url": "https://glygen.org/publication/PubMed/32276588" }, { "database": "PubMed", "id": "32312949", "url": "https://glygen.org/publication/PubMed/32312949" }, { "database": "PubMed", "id": "32316601", "url": "https://glygen.org/publication/PubMed/32316601" }, { "database": "PubMed", "id": "32341362", "url": "https://glygen.org/publication/PubMed/32341362" }, { "database": "PubMed", "id": "32354153", "url": "https://glygen.org/publication/PubMed/32354153" }, { "database": "PubMed", "id": "32366272", "url": "https://glygen.org/publication/PubMed/32366272" }, { "database": "PubMed", "id": "32373532", "url": "https://glygen.org/publication/PubMed/32373532" }, { "database": "PubMed", "id": "32379706", "url": "https://glygen.org/publication/PubMed/32379706" }, { "database": "PubMed", "id": "32427102", "url": "https://glygen.org/publication/PubMed/32427102" }, { "database": "PubMed", "id": "32483262", "url": "https://glygen.org/publication/PubMed/32483262" }, { "database": "PubMed", "id": "32493400", "url": "https://glygen.org/publication/PubMed/32493400" }, { "database": "PubMed", "id": "32531473", "url": "https://glygen.org/publication/PubMed/32531473" }, { "database": "PubMed", "id": "32555370", "url": "https://glygen.org/publication/PubMed/32555370" }, { "database": "PubMed", "id": "32566257", "url": "https://glygen.org/publication/PubMed/32566257" }, { "database": "PubMed", "id": "32581790", "url": "https://glygen.org/publication/PubMed/32581790" }, { "database": "PubMed", "id": "32596245", "url": "https://glygen.org/publication/PubMed/32596245" }, { "database": "PubMed", "id": "32615737", "url": "https://glygen.org/publication/PubMed/32615737" }, { "database": "PubMed", "id": "32616893", "url": "https://glygen.org/publication/PubMed/32616893" }, { "database": "PubMed", "id": "32636842", "url": "https://glygen.org/publication/PubMed/32636842" }, { "database": "PubMed", "id": "32641498", "url": "https://glygen.org/publication/PubMed/32641498" }, { "database": "PubMed", "id": "32659127", "url": "https://glygen.org/publication/PubMed/32659127" }, { "database": "PubMed", "id": "32699356", "url": "https://glygen.org/publication/PubMed/32699356" }, { "database": "PubMed", "id": "32716920", "url": "https://glygen.org/publication/PubMed/32716920" }, { "database": "PubMed", "id": "32719388", "url": "https://glygen.org/publication/PubMed/32719388" }, { "database": "PubMed", "id": "32728173", "url": "https://glygen.org/publication/PubMed/32728173" }, { "database": "PubMed", "id": "32742256", "url": "https://glygen.org/publication/PubMed/32742256" }, { "database": "PubMed", "id": "32783890", "url": "https://glygen.org/publication/PubMed/32783890" }, { "database": "PubMed", "id": "32792672", "url": "https://glygen.org/publication/PubMed/32792672" }, { "database": "PubMed", "id": "32796688", "url": "https://glygen.org/publication/PubMed/32796688" }, { "database": "PubMed", "id": "32796834", "url": "https://glygen.org/publication/PubMed/32796834" }, { "database": "PubMed", "id": "32849638", "url": "https://glygen.org/publication/PubMed/32849638" }, { "database": "PubMed", "id": "32859869", "url": "https://glygen.org/publication/PubMed/32859869" }, { "database": "PubMed", "id": "32863210", "url": "https://glygen.org/publication/PubMed/32863210" }, { "database": "PubMed", "id": "32873626", "url": "https://glygen.org/publication/PubMed/32873626" }, { "database": "PubMed", "id": "32891670", "url": "https://glygen.org/publication/PubMed/32891670" }, { "database": "PubMed", "id": "32899862", "url": "https://glygen.org/publication/PubMed/32899862" }, { "database": "PubMed", "id": "32911704", "url": "https://glygen.org/publication/PubMed/32911704" }, { "database": "PubMed", "id": "32937140", "url": "https://glygen.org/publication/PubMed/32937140" }, { "database": "PubMed", "id": "32940423", "url": "https://glygen.org/publication/PubMed/32940423" }, { "database": "PubMed", "id": "32943626", "url": "https://glygen.org/publication/PubMed/32943626" }, { "database": "PubMed", "id": "32953932", "url": "https://glygen.org/publication/PubMed/32953932" }, { "database": "PubMed", "id": "32956848", "url": "https://glygen.org/publication/PubMed/32956848" }, { "database": "PubMed", "id": "32983109", "url": "https://glygen.org/publication/PubMed/32983109" }, { "database": "PubMed", "id": "32983159", "url": "https://glygen.org/publication/PubMed/32983159" }, { "database": "PubMed", "id": "33005011", "url": "https://glygen.org/publication/PubMed/33005011" }, { "database": "PubMed", "id": "33012785", "url": "https://glygen.org/publication/PubMed/33012785" }, { "database": "PubMed", "id": "33033766", "url": "https://glygen.org/publication/PubMed/33033766" }, { "database": "PubMed", "id": "33038070", "url": "https://glygen.org/publication/PubMed/33038070" }, { "database": "PubMed", "id": "33062046", "url": "https://glygen.org/publication/PubMed/33062046" }, { "database": "PubMed", "id": "33071755", "url": "https://glygen.org/publication/PubMed/33071755" }, { "database": "PubMed", "id": "33114361", "url": "https://glygen.org/publication/PubMed/33114361" }, { "database": "PubMed", "id": "33130679", "url": "https://glygen.org/publication/PubMed/33130679" }, { "database": "PubMed", "id": "33165366", "url": "https://glygen.org/publication/PubMed/33165366" }, { "database": "PubMed", "id": "33184378", "url": "https://glygen.org/publication/PubMed/33184378" }, { "database": "PubMed", "id": "33184414", "url": "https://glygen.org/publication/PubMed/33184414" }, { "database": "PubMed", "id": "33193405", "url": "https://glygen.org/publication/PubMed/33193405" }, { "database": "PubMed", "id": "33210462", "url": "https://glygen.org/publication/PubMed/33210462" }, { "database": "PubMed", "id": "33226552", "url": "https://glygen.org/publication/PubMed/33226552" }, { "database": "PubMed", "id": "33250856", "url": "https://glygen.org/publication/PubMed/33250856" }, { "database": "PubMed", "id": "33275593", "url": "https://glygen.org/publication/PubMed/33275593" }, { "database": "PubMed", "id": "33287820", "url": "https://glygen.org/publication/PubMed/33287820" }, { "database": "PubMed", "id": "33294856", "url": "https://glygen.org/publication/PubMed/33294856" }, { "database": "PubMed", "id": "33320884", "url": "https://glygen.org/publication/PubMed/33320884" }, { "database": "PubMed", "id": "33348907", "url": "https://glygen.org/publication/PubMed/33348907" }, { "database": "PubMed", "id": "33362773", "url": "https://glygen.org/publication/PubMed/33362773" }, { "database": "PubMed", "id": "33413592", "url": "https://glygen.org/publication/PubMed/33413592" }, { "database": "PubMed", "id": "33414476", "url": "https://glygen.org/publication/PubMed/33414476" }, { "database": "PubMed", "id": "33419082", "url": "https://glygen.org/publication/PubMed/33419082" }, { "database": "PubMed", "id": "33435535", "url": "https://glygen.org/publication/PubMed/33435535" }, { "database": "PubMed", "id": "33500390", "url": "https://glygen.org/publication/PubMed/33500390" }, { "database": "PubMed", "id": "33520717", "url": "https://glygen.org/publication/PubMed/33520717" }, { "database": "PubMed", "id": "33532181", "url": "https://glygen.org/publication/PubMed/33532181" }, { "database": "PubMed", "id": "33547321", "url": "https://glygen.org/publication/PubMed/33547321" }, { "database": "PubMed", "id": "33567340", "url": "https://glygen.org/publication/PubMed/33567340" }, { "database": "PubMed", "id": "33595435", "url": "https://glygen.org/publication/PubMed/33595435" }, { "database": "PubMed", "id": "33603781", "url": "https://glygen.org/publication/PubMed/33603781" }, { "database": "PubMed", "id": "33613308", "url": "https://glygen.org/publication/PubMed/33613308" }, { "database": "PubMed", "id": "33633735", "url": "https://glygen.org/publication/PubMed/33633735" }, { "database": "PubMed", "id": "33649479", "url": "https://glygen.org/publication/PubMed/33649479" }, { "database": "PubMed", "id": "33658993", "url": "https://glygen.org/publication/PubMed/33658993" }, { "database": "PubMed", "id": "33659884", "url": "https://glygen.org/publication/PubMed/33659884" }, { "database": "PubMed", "id": "33669811", "url": "https://glygen.org/publication/PubMed/33669811" }, { "database": "PubMed", "id": "33672385", "url": "https://glygen.org/publication/PubMed/33672385" }, { "database": "PubMed", "id": "33677938", "url": "https://glygen.org/publication/PubMed/33677938" }, { "database": "PubMed", "id": "33688389", "url": "https://glygen.org/publication/PubMed/33688389" }, { "database": "PubMed", "id": "33754024", "url": "https://glygen.org/publication/PubMed/33754024" }, { "database": "PubMed", "id": "33758172", "url": "https://glygen.org/publication/PubMed/33758172" }, { "database": "PubMed", "id": "33758188", "url": "https://glygen.org/publication/PubMed/33758188" }, { "database": "PubMed", "id": "33804171", "url": "https://glygen.org/publication/PubMed/33804171" }, { "database": "PubMed", "id": "33807180", "url": "https://glygen.org/publication/PubMed/33807180" }, { "database": "PubMed", "id": "33846776", "url": "https://glygen.org/publication/PubMed/33846776" }, { "database": "PubMed", "id": "33849555", "url": "https://glygen.org/publication/PubMed/33849555" }, { "database": "PubMed", "id": "33869980", "url": "https://glygen.org/publication/PubMed/33869980" }, { "database": "PubMed", "id": "33884100", "url": "https://glygen.org/publication/PubMed/33884100" }, { "database": "PubMed", "id": "33931442", "url": "https://glygen.org/publication/PubMed/33931442" }, { "database": "PubMed", "id": "33941789", "url": "https://glygen.org/publication/PubMed/33941789" }, { "database": "PubMed", "id": "33971888", "url": "https://glygen.org/publication/PubMed/33971888" }, { "database": "PubMed", "id": "34082428", "url": "https://glygen.org/publication/PubMed/34082428" }, { "database": "PubMed", "id": "34208786", "url": "https://glygen.org/publication/PubMed/34208786" }, { "database": "PubMed", "id": "34366869", "url": "https://glygen.org/publication/PubMed/34366869" }, { "database": "PubMed", "id": "34465724", "url": "https://glygen.org/publication/PubMed/34465724" }, { "database": "PubMed", "id": "34988938", "url": "https://glygen.org/publication/PubMed/34988938" }, { "database": "PubMed", "id": "35023763", "url": "https://glygen.org/publication/PubMed/35023763" }, { "database": "PubMed", "id": "35201262", "url": "https://glygen.org/publication/PubMed/35201262" }, { "database": "PubMed", "id": "35224167", "url": "https://glygen.org/publication/PubMed/35224167" }, { "database": "PubMed", "id": "35452152", "url": "https://glygen.org/publication/PubMed/35452152" }, { "database": "PubMed", "id": "35477177", "url": "https://glygen.org/publication/PubMed/35477177" }, { "database": "PubMed", "id": "35748215", "url": "https://glygen.org/publication/PubMed/35748215" }, { "database": "PubMed", "id": "35766003", "url": "https://glygen.org/publication/PubMed/35766003" }, { "database": "PubMed", "id": "35907465", "url": "https://glygen.org/publication/PubMed/35907465" }, { "database": "PubMed", "id": "35964410", "url": "https://glygen.org/publication/PubMed/35964410" }, { "database": "PubMed", "id": "36065437", "url": "https://glygen.org/publication/PubMed/36065437" }, { "database": "PubMed", "id": "36148310", "url": "https://glygen.org/publication/PubMed/36148310" }, { "database": "PubMed", "id": "36198369", "url": "https://glygen.org/publication/PubMed/36198369" }, { "database": "PubMed", "id": "36215790", "url": "https://glygen.org/publication/PubMed/36215790" }, { "database": "PubMed", "id": "36297523", "url": "https://glygen.org/publication/PubMed/36297523" }, { "database": "PubMed", "id": "36325883", "url": "https://glygen.org/publication/PubMed/36325883" }, { "database": "PubMed", "id": "9927197", "url": "https://glygen.org/publication/PubMed/9927197" }, { "database": "PubMed", "id": "27430312", "url": "https://glygen.org/publication/PubMed/27430312" }, { "database": "PubMed", "id": "15753085", "url": "https://glygen.org/publication/PubMed/15753085" }, { "database": "PubMed", "id": "26095253", "url": "https://glygen.org/publication/PubMed/26095253" }, { "database": "PubMed", "id": "26107252", "url": "https://glygen.org/publication/PubMed/26107252" }, { "database": "PubMed", "id": "26359501", "url": "https://glygen.org/publication/PubMed/26359501" }, { "database": "PubMed", "id": "32350463", "url": "https://glygen.org/publication/PubMed/32350463" }, { "database": "PubMed", "id": "12783884", "url": "https://glygen.org/publication/PubMed/12783884" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect ubiquitination by ZNRF1.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "22057101", "url": "https://glygen.org/publication/PubMed/22057101" }, { "database": "PubMed", "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Thr479", "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": 479, "start_aa": "Thr", "end_pos": 479, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr479", "evidence": [ { "id": "24526702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24526702" }, { "id": "P31750", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31750" }, { "id": "33915326", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33915326" }, { "id": "18570920", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18570920" }, { "id": "26866564", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26866564" }, { "id": "30031227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30031227" }, { "id": "23793825", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23793825" }, { "id": "11959983", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11959983" }, { "id": "P31750", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31750" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 479, "start_aa": "Thr", "end_pos": 479, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr479", "evidence": [ { "id": "24526702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24526702" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "24526702", "url": "https://glygen.org/publication/PubMed/24526702" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Thr172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "32566257", "url": "https://glygen.org/publication/PubMed/32566257" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Tyr176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Significant loss of interaction with TNK2. Loss of membrane localization. Significant reduction in phosphorylation on Ser-473.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Tyr18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "27689988", "url": "https://glygen.org/publication/PubMed/27689988" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Thr195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WUN2-1", "kinase_gene_name": "Tbk1", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "25606824", "url": "https://glygen.org/publication/PubMed/25606824" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Tyr26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "20103705", "url": "https://glygen.org/publication/PubMed/20103705" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Tyr315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Tyr326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" }, { "database": "PubMed", "id": "24675832", "url": "https://glygen.org/publication/PubMed/24675832" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "17335965", "url": "https://glygen.org/publication/PubMed/17335965" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WUN2-1", "kinase_gene_name": "Tbk1", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "25606824", "url": "https://glygen.org/publication/PubMed/25606824" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Thr389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "16984645", "url": "https://glygen.org/publication/PubMed/16984645" }, { "database": "PubMed", "id": "20661274", "url": "https://glygen.org/publication/PubMed/20661274" }, { "database": "PubMed", "id": "27127181", "url": "https://glygen.org/publication/PubMed/27127181" }, { "database": "PubMed", "id": "27549161", "url": "https://glygen.org/publication/PubMed/27549161" }, { "database": "PubMed", "id": "28212537", "url": "https://glygen.org/publication/PubMed/28212537" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "30823934", "url": "https://glygen.org/publication/PubMed/30823934" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "26848623", "url": "https://glygen.org/publication/PubMed/26848623" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Thr448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Thr450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "21670491", "url": "https://glygen.org/publication/PubMed/21670491" }, { "database": "PubMed", "id": "26263164", "url": "https://glygen.org/publication/PubMed/26263164" }, { "database": "PubMed", "id": "28440748", "url": "https://glygen.org/publication/PubMed/28440748" }, { "database": "PubMed", "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Tyr474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "iPTMnet", "id": "P31750", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31750" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Lys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "In kinase dead mutant; lacks kinase activity. Overexpression inhibits insulin-stimulated translocation of SLC2A4/GLUT4 in a dominant negative manner.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "26440888", "url": "https://glygen.org/publication/PubMed/26440888" }, { "database": "PubMed", "id": "9415393", "url": "https://glygen.org/publication/PubMed/9415393" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Asp434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not affect caspase-3 cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "12124386", "url": "https://glygen.org/publication/PubMed/12124386" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Asp456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not affect caspase-3 cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "12124386", "url": "https://glygen.org/publication/PubMed/12124386" } ] } ] }, { "uniprot_canonical_ac": "P31750-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asp462", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes caspase-3 cleavage and increases cell survival. Does not affect kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P31750", "url": "https://www.uniprot.org/uniprotkb/P31750" }, { "database": "PubMed", "id": "12124386", "url": "https://glygen.org/publication/PubMed/12124386" } ] } ] } ], "record_id": "P31750-1" }, { "uniprot_canonical_ac": "A0A087WPF7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1261, "chemical_mass": 138920.0, "gene_names": "Auts2;2700063G02Rik;A730011F23Rik;Auts2;D830032G16Rik;Kiaa0442", "protein_name": "Autism susceptibility gene 2 protein homolog", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060307", "name": "autosomal dominant intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal dominant inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060307", "evidence": [ { "id": "0060307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060307" } ], "weight": 0.0 }, { "disease_id": "DOID:0070056", "name": "autosomal dominant intellectual developmental disorder 26", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.", "url": "https://disease-ontology.org/term/DOID:0070056", "evidence": [ { "id": "0070056", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070056" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "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": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "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": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" }, { "name": "innate vocalization behavior", "id": "GO:0098582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098582", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "1202", "end_pos": "1202", "site_lbl": "Thr1202", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1202, "start_aa": "Thr", "end_pos": 1202, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1202", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Thr804", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 804, "start_aa": "Thr", "end_pos": 804, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr804", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Asn868", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HPSHPSPAPPVPVSALGHNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 868, "start_aa": "Asn", "end_pos": 868, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn868", "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": "A0A087WPF7-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Asn955", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PNSTSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 955, "start_aa": "Asn", "end_pos": 955, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn955", "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": "A0A087WPF7-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ser1200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ] } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "1235", "end_pos": "1235", "site_lbl": "Ser1235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprotkb/A0A087WPF7" } ] } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Lys777", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "5", "chr_pos": "131472491", "evidence": [ { "id": "rs3388777590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777590" } ] } ] } ], "record_id": "A0A087WPF7-1" }, { "uniprot_canonical_ac": "Q9JLZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 33395.0, "gene_names": "Auh;Auh", "protein_name": "Methylglutaconyl-CoA hydratase, mitochondrial", "disease": [ { "disease_id": "DOID:0110002", "name": "3-methylglutaconic aciduria type 1", "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0110002", "evidence": [ { "id": "0110002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110002" } ], "weight": 0.0 }, { "disease_id": "DOID:447", "name": "renal tubular transport disease", "description": "", "url": "https://disease-ontology.org/term/DOID:447", "evidence": [ { "id": "447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:447" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "enoyl-CoA hydratase activity", "id": "GO:0004300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004300", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "methylglutaconyl-CoA hydratase activity", "id": "GO:0004490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004490", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "itaconyl-CoA hydratase activity", "id": "GO:0050011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050011", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" }, { "name": "L-leucine catabolic process", "id": "GO:0006552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006552", "evidence": [ { "database": "UniProtKB", "id": "Q9JLZ3", "url": "https://www.uniprot.org/uniprotkb/Q9JLZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JLZ3-1" }, { "uniprot_canonical_ac": "Q80V94-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1122, "chemical_mass": 124845.0, "gene_names": "Ap4e1;2310033A20Rik;9930028M04Rik;Ap4e1", "protein_name": "AP-4 complex subunit epsilon-1", "disease": [ { "disease_id": "DOID:0060243", "name": "stuttering", "description": "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.", "url": "https://disease-ontology.org/term/DOID:0060243", "evidence": [ { "id": "0060243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060243" } ], "weight": 0.0 }, { "disease_id": "DOID:0110803", "name": "hereditary spastic paraplegia 51", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0110803", "evidence": [ { "id": "0110803", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110803" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" } ], "cellular_component": [ { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" }, { "name": "AP-4 adaptor complex", "id": "GO:0030124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030124", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" } ], "molecular_function": [ { "name": "cargo adaptor activity", "id": "GO:0140312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140312", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80V94-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Ser699", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ] } ] }, { "uniprot_canonical_ac": "Q80V94-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Ser851", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80V94", "url": "https://www.uniprot.org/uniprotkb/Q80V94" } ] } ] } ], "record_id": "Q80V94-1" }, { "uniprot_canonical_ac": "Q68FE2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 839, "chemical_mass": 94425.0, "gene_names": "Atg9a;Apg9l1;Atg9a;Atg9l1;Atg9", "protein_name": "Autophagy-related protein 9A", "disease": [ { "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 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "negative regulation of interferon-beta production", "id": "GO:0032688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032688", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MVNHSLHPTEPVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "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" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "Q68FE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68FE2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" }, { "database": "iPTMnet", "id": "Q68FE2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE2" }, { "database": "PubMed", "id": "27934868", "url": "https://glygen.org/publication/PubMed/27934868" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Tyr15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q68FE2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE2" }, { "database": "PubMed", "id": "27934868", "url": "https://glygen.org/publication/PubMed/27934868" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FE2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FE2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Ser656", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Ser735", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Ser741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Ser828", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE2", "url": "https://www.uniprot.org/uniprotkb/Q68FE2" } ] } ] }, { "uniprot_canonical_ac": "Q68FE2-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Tyr8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q68FE2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE2" }, { "database": "PubMed", "id": "27934868", "url": "https://glygen.org/publication/PubMed/27934868" } ] } ] } ], "record_id": "Q68FE2-1" }, { "uniprot_canonical_ac": "Q8BSN3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 593, "chemical_mass": 69713.0, "gene_names": "ODAD3;Odad3;C330001K17Rik;Ccdc151;Odad3;b2b1885Clo", "protein_name": "Outer dynein arm-docking complex subunit 3", "disease": [ { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "weight": 0.0 }, { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0110624", "name": "primary ciliary dyskinesia 30", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110624", "evidence": [ { "id": "0110624", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110624" } ], "weight": 0.0 }, { "disease_id": "DOID:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9562" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "outer dynein arm docking complex", "id": "GO:0120228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120228", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" }, { "name": "outer dynein arm assembly", "id": "GO:0036158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "evidence": [ { "database": "UniProtKB", "id": "Q8BSN3", "url": "https://www.uniprot.org/uniprotkb/Q8BSN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BSN3-1" }, { "uniprot_canonical_ac": "Q9Z2A5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 516, "chemical_mass": 59146.0, "gene_names": "Ate1;Ate1", "protein_name": "Arginyl-tRNA--protein transferase 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "protein arginylation", "id": "GO:0016598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016598", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "protein K27-linked ubiquitination", "id": "GO:0044314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044314", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "protein targeting to vacuole involved in autophagy", "id": "GO:0071211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071211", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the N-end rule pathway", "id": "GO:0071596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071596", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" } ], "molecular_function": [ { "name": "arginyl-tRNA--protein transferase activity", "id": "GO:0004057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004057", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2A5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2A5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z2A5-1" }, { "uniprot_canonical_ac": "P70343-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 42742.0, "gene_names": "Casp4;CASP-11;CASP-4;Casp11;Casp4;Caspl;Ich3;ich-3", "protein_name": "Caspase-4", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "NLRP1 inflammasome complex", "id": "GO:0072558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072558", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "non-canonical inflammasome complex", "id": "GO:0160074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160074", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "ectopic germ cell programmed cell death", "id": "GO:0035234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035234", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "detection of lipopolysaccharide", "id": "GO:0032497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032497", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18-mediated signaling pathway", "id": "GO:2000494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000494", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "non-canonical inflammasome complex assembly", "id": "GO:0160075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160075", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "pyroptotic cell death", "id": "GO:0141201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141201", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" }, { "name": "CARD domain binding", "id": "GO:0050700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050700", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70343-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Lys19", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Severely attenuated LPS-binding, LPS-induced oligomerization and activation, and LPS-induced pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Cys254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of catalytic activity and of autocatalytic processing. Loss of LPS-induced pyroptosis. No effect on the interaction with LPS.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "22002608", "url": "https://glygen.org/publication/PubMed/22002608" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" }, { "database": "PubMed", "id": "28314590", "url": "https://glygen.org/publication/PubMed/28314590" }, { "database": "PubMed", "id": "30135078", "url": "https://glygen.org/publication/PubMed/30135078" }, { "database": "PubMed", "id": "30392956", "url": "https://glygen.org/publication/PubMed/30392956" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "No cell death.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asp277", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Impaired NLRP6 inflammasome-dependent activation and release of IL1B and IL18.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "30392956", "url": "https://glygen.org/publication/PubMed/30392956" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asp285", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of autocatalytic processing and subsequent activation.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "30135078", "url": "https://glygen.org/publication/PubMed/30135078" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Impaired NLRP6 inflammasome-dependent activation and release of IL1B and IL18.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "30392956", "url": "https://glygen.org/publication/PubMed/30392956" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Leu289", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "K", "comment": "Does not promote ability to cleave IL18.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "37993714", "url": "https://glygen.org/publication/PubMed/37993714" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Arg310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished ability to cleave Gasdermin-D (GSDMD).", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "34671164", "url": "https://glygen.org/publication/PubMed/34671164" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Lys38", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "No effect on LPS-binding, LPS-induced oligomerization, and LPS-induced pyroptosis; when associated with M-40.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Glu40", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "M", "comment": "No effect on LPS-binding, LPS-induced oligomerization, and LPS-induced pyroptosis; when associated with E-38.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Lys53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Complete loss of LPS-binding, LPS-induced oligomerization, and LPS-induced pyroptosis; when associated with E-54 and A-55.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Arg54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Complete loss of LPS-binding, LPS-induced oligomerization, and LPS-induced pyroptosis; when associated with E-53 and A-55.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Trp55", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Complete loss of LPS-binding, LPS-induced oligomerization, and LPS-induced pyroptosis; when associated with E-54 and A-55.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Lys62", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Severely attenuated LPS-binding, LPS-induced oligomerization and activation, and LPS-induced pyroptosis; when associated with E-63 and E-64.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Lys63", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Severely attenuated LPS-binding, LPS-induced oligomerization and activation, and LPS-induced pyroptosis; when associated with E-62 and E-64.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Lys64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Severely attenuated LPS-binding, LPS-induced oligomerization and activation, and LPS-induced pyroptosis; when associated with E-62 and E-63.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "25119034", "url": "https://glygen.org/publication/PubMed/25119034" } ] } ] }, { "uniprot_canonical_ac": "P70343-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Asp80", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Impaired NLRP6 inflammasome-dependent activation and release of IL1B and IL18.", "evidence": [ { "database": "UniProtKB", "id": "P70343", "url": "https://www.uniprot.org/uniprotkb/P70343" }, { "database": "PubMed", "id": "30392956", "url": "https://glygen.org/publication/PubMed/30392956" } ] } ] } ], "record_id": "P70343-1" }, { "uniprot_canonical_ac": "Q6P9R4-4", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1405, "chemical_mass": 155982.0, "gene_names": "Arhgef18;A430078G23Rik;Arhgef18;D030053O22Rik;Kiaa0521", "protein_name": "Rho guanine nucleotide exchange factor 18", "disease": [ { "disease_id": "DOID:0061113", "name": "retinitis pigmentosa 78", "description": "A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0061113", "evidence": [ { "id": "0061113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061113" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to cell-cell junction", "id": "GO:0150105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150105", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "negative regulation of stress fiber assembly", "id": "GO:0051497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051497", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "1365", "end_pos": "1365", "site_lbl": "Thr1365", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1365, "start_aa": "Thr", "end_pos": 1365, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1365", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 174, "start_aa": "Thr", "end_pos": 174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr174", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "396", "end_pos": "396", "site_lbl": "Thr396", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 396, "start_aa": "Thr", "end_pos": 396, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr396", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "621", "end_pos": "621", "site_lbl": "Asn621", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KIGNFSIVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 621, "start_aa": "Asn", "end_pos": 621, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn621", "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": "Q6P9R4-4", "start_pos": "1336", "end_pos": "1336", "site_lbl": "Ser1336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9R4" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "1338", "end_pos": "1338", "site_lbl": "Ser1338", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9R4" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "952", "end_pos": "952", "site_lbl": "Thr952", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9R4" } ] } ] }, { "uniprot_canonical_ac": "Q6P9R4-4", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9R4", "url": "https://www.uniprot.org/uniprotkb/Q6P9R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9R4" } ] } ] } ], "record_id": "Q6P9R4-4" }, { "uniprot_canonical_ac": "Q9WVM3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 565, "chemical_mass": 63021.0, "gene_names": "Anapc7;APC7;Anapc7;Apc7", "protein_name": "Anaphase-promoting complex subunit 7", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "anaphase-promoting complex", "id": "GO:0005680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005680", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "anaphase-promoting complex-dependent catabolic process", "id": "GO:0031145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031145", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "protein branched polyubiquitination", "id": "GO:0141198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141198", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" }, { "name": "enzyme-substrate adaptor activity", "id": "GO:0140767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140767", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM3", "url": "https://www.uniprot.org/uniprotkb/Q9WVM3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVM3-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Asn471", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NALANQSDCVLHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 471, "start_aa": "Asn", "end_pos": 471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn471", "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": "Q9WVM3-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Thr525", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 525, "start_aa": "Thr", "end_pos": 525, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr525", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM3-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ile224", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTS).", "chr_id": "5", "chr_pos": "122571597", "evidence": [ { "id": "rs3395755445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395755445" } ] } ] } ], "record_id": "Q9WVM3-1" }, { "uniprot_canonical_ac": "Q14AT5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 859, "chemical_mass": 97128.0, "gene_names": "Ano7;Ano7;Ngep-L;Ngep;Pcanap5;Tmem16g", "protein_name": "Anoctamin-7", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "calcium activated phosphatidylserine scrambling", "id": "GO:0061589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061589", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "calcium activated phosphatidylcholine scrambling", "id": "GO:0061590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061590", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "calcium activated galactosylceramide scrambling", "id": "GO:0061591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061591", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" }, { "name": "calcium activated phospholipid scrambling", "id": "GO:0061588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061588", "evidence": [ { "database": "UniProtKB", "id": "Q14AT5", "url": "https://www.uniprot.org/uniprotkb/Q14AT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q14AT5-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Asn746", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 746, "start_aa": "Asn", "end_pos": 746, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn746", "evidence": [ { "id": "Q14AT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14AT5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q14AT5-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Asn761", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "Q14AT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14AT5#ptm_processing" } ] } ] } ], "record_id": "Q14AT5-1" }, { "uniprot_canonical_ac": "Q8K3X6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 423, "chemical_mass": 47975.0, "gene_names": "Anks4b;2010013E14Rik;Anks4b;Harp", "protein_name": "Ankyrin repeat and SAM domain-containing protein 4B", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "stereocilia ankle link", "id": "GO:0002141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002141", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "protein localization to microvillus", "id": "GO:1904106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904106", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "brush border assembly", "id": "GO:1904970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904970", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" } ], "molecular_function": [ { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "Q8K3X6", "url": "https://www.uniprot.org/uniprotkb/Q8K3X6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K3X6-1" }, { "uniprot_canonical_ac": "Q9D6Z0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 221, "chemical_mass": 24970.0, "gene_names": "Alkbh7;2310045B01Rik;2510008E23Rik;Abh7;Alkbh7;Spata11", "protein_name": "RNA demethylase ALKBH7, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability involved in programmed necrotic cell death", "id": "GO:1902445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902445", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "oxidative RNA demethylation", "id": "GO:0035513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035513", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "tRNA demethylase activity", "id": "GO:1990984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990984", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" }, { "name": "oxidative RNA demethylase activity", "id": "GO:0035515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035515", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Z0", "url": "https://www.uniprot.org/uniprotkb/Q9D6Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D6Z0-1" }, { "uniprot_canonical_ac": "P48036-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 319, "chemical_mass": 35752.0, "gene_names": "Anxa5;Anx5;Anxa5;CPB-I", "protein_name": "Annexin A5", "disease": [ { "disease_id": "DOID:0080379", "name": "nephrotic syndrome type 2", "description": "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.", "url": "https://disease-ontology.org/term/DOID:0080379", "evidence": [ { "id": "0080379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080379" } ], "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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "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: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "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: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:438", "name": "autoimmune disease of the nervous system", "description": "An autoimmune disease affecting the nervous system.", "url": "https://disease-ontology.org/term/DOID:438", "evidence": [ { "id": "438", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:438" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "endothelial microparticle", "id": "GO:0072563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072563", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "P-type calcium transporter activity", "id": "GO:0005388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005388", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "cellular response to gonadotropin-releasing hormone", "id": "GO:0097211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097211", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "regulation of flagellated sperm motility", "id": "GO:1901317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901317", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "negative regulation of prolactin secretion", "id": "GO:1902721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902721", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" }, { "name": "negative regulation of coagulation", "id": "GO:0050819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050819", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48036-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "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": 86, "start_aa": "Ser", "end_pos": 86, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser86", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P48036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48036" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48036", "url": "https://www.uniprot.org/uniprotkb/P48036" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P48036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48036" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Gly145", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36511643", "evidence": [ { "id": "rs3388622975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388622975" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ala157", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36511197", "evidence": [ { "id": "rs13472019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13472019" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Asp160", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36511188", "evidence": [ { "id": "rs3388629520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388629520" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ala168", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36511165", "evidence": [ { "id": "rs254432074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254432074" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ala19", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36519433", "evidence": [ { "id": "rs3413107432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413107432" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ala256", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36504794", "evidence": [ { "id": "rs3388624784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624784" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ile268", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36504556", "evidence": [ { "id": "rs3388616993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616993" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Phe280", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36504520", "evidence": [ { "id": "rs3388628572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388628572" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ile282", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36504513", "evidence": [ { "id": "rs3388627083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388627083" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Arg287", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36504498", "evidence": [ { "id": "rs3388626855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388626855" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Leu37", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36518191", "evidence": [ { "id": "rs3388624390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624390" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asp65", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36511188", "evidence": [ { "id": "rs3388629520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388629520" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ile79", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36516091", "evidence": [ { "id": "rs3388624878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624878" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Met82", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36516081", "evidence": [ { "id": "rs3388629544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388629544" } ] } ] }, { "uniprot_canonical_ac": "P48036-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Tyr89", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "3", "chr_pos": "36516060", "evidence": [ { "id": "rs3388624743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388624743" } ] } ] } ], "record_id": "P48036-1" }, { "uniprot_canonical_ac": "P17427-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 938, "chemical_mass": 104017.0, "gene_names": "Ap2a2;2410074K14Rik;Adtab;Ap2a2;L25", "protein_name": "AP-2 complex subunit alpha-2", "disease": [], "biological_process": [ { "name": "postsynaptic neurotransmitter receptor internalization", "id": "GO:0098884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098884", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "regulation of hematopoietic stem cell differentiation", "id": "GO:1902036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902036", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" } ], "cellular_component": [ { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17427-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Thr126", "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": 126, "start_aa": "Thr", "end_pos": 126, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr126", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P17427", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P17427" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Thr654", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 654, "start_aa": "Thr", "end_pos": 654, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr654", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 672, "start_aa": "Thr", "end_pos": 672, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr672", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Asn813", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YGGTFQNVSVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 813, "start_aa": "Asn", "end_pos": 813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn813", "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": "P17427-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Arg21", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces interaction with CD4 endocytosis signal motif; when associated with AP2S1 S-15.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "19140243", "url": "https://glygen.org/publication/PubMed/19140243" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Lys31", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Arg32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Lys35", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Lys55", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Strongly reduces phosphatidylinositol binding. Abolishes phosphatidylinositol binding; when associated with Q-56 and Q-57.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Lys56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Strongly reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Strongly reduces phosphatidylinositol binding. Abolishes phosphatidylinositol binding; when associated with Q-55 and Q-57.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Lys57", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Strongly reduces phosphatidylinositol binding. Abolishes phosphatidylinositol binding; when associated with Q-55 and Q-56.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Lys61", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces phosphatidylinositol binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10459011", "url": "https://glygen.org/publication/PubMed/10459011" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Lys727", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on DENND1A-,DENND1B- nor DENND1C-binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Gln782", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduces DENND1A- and DENND1C-binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "20154091", "url": "https://glygen.org/publication/PubMed/20154091" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Phe837", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Reduces SNAP91, AMPH and BIN1 binding. Abolishes AMPH and SNAP91 binding; when associated with A-916. Abolishes EPN1 and EPS15 binding; when associated with A-905.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10430869", "url": "https://glygen.org/publication/PubMed/10430869" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Trp840", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes AMPH, BIN1, DGKD, EPS15, EPN1, auxilin and SNAP91 binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "17880279", "url": "https://glygen.org/publication/PubMed/17880279" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Glu849", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Arg905", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduces AMPH, SNAP91, auxilin and BIN1 binding. Abolishes EPN1 and EPS15 binding; when associated with A-837.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10430869", "url": "https://glygen.org/publication/PubMed/10430869" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "907", "end_pos": "907", "site_lbl": "Glu907", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly reduces AMPH, SNAP91 and BIN1 binding. Slightly reduces EPS15 and auxilin binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Arg916", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduces AMPH and SNAP91 binding. Abolishes DENND1B-binding; no effect on DENND1A-, nor DENND1C-binding. Abolishes AMPH and SNAP91 binding; when associated with A-837.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10430869", "url": "https://glygen.org/publication/PubMed/10430869" }, { "database": "PubMed", "id": "20154091", "url": "https://glygen.org/publication/PubMed/20154091" } ] } ] }, { "uniprot_canonical_ac": "P17427-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Arg920", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes AMPH and BIN1 binding. Reduces EPS15, SNAP91 and auxilin binding.", "evidence": [ { "database": "UniProtKB", "id": "P17427", "url": "https://www.uniprot.org/uniprotkb/P17427" }, { "database": "PubMed", "id": "10380931", "url": "https://glygen.org/publication/PubMed/10380931" } ] } ] } ], "record_id": "P17427-1" }, { "uniprot_canonical_ac": "E9Q4J9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 644, "chemical_mass": 71764.0, "gene_names": "Adgrf2;Adgrf2;Gpr111;PGR20;Pgr20", "protein_name": "Adhesion G protein-coupled receptor F2", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q4J9", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q4J9-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asn155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "evidence": [ { "id": "E9Q4J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9Q4J9-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Asn195", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSCVLLQSIHSFASK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "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": "E9Q4J9-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Asn219", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 219, "start_aa": "Asn", "end_pos": 219, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn219", "evidence": [ { "id": "E9Q4J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->DIS).", "chr_id": "17", "chr_pos": "43022168", "evidence": [ { "id": "rs3389443092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443092" } ] } ] }, { "uniprot_canonical_ac": "E9Q4J9-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Asn240", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFTFSMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "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": "E9Q4J9-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Asn293", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 293, "start_aa": "Asn", "end_pos": 293, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn293", "evidence": [ { "id": "E9Q4J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9Q4J9-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Asn311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISLIFEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 311, "start_aa": "Asn", "end_pos": 311, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn311", "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" } ] }, { "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": 311, "start_aa": "Asn", "end_pos": 311, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn311", "evidence": [ { "id": "E9Q4J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q4J9#ptm_processing" } ] } ] } ], "record_id": "E9Q4J9-1" }, { "uniprot_canonical_ac": "O54754-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1333, "chemical_mass": 146678.0, "gene_names": "Aox1;Aox-1;Aox-2;Aox1;Aox2;Ao;Moro;Ro", "protein_name": "Aldehyde oxidase 1", "disease": [ { "disease_id": "DOID:0060236", "name": "xanthinuria", "description": "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.", "url": "https://disease-ontology.org/term/DOID:0060236", "evidence": [ { "id": "0060236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060236" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 } ], "biological_process": [ { "name": "NAD+ catabolic process", "id": "GO:0019677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019677", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "aldehyde oxidase activity", "id": "GO:0004031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004031", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "molybdopterin cofactor binding", "id": "GO:0043546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043546", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54754-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ser1063", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" } ] } ] }, { "uniprot_canonical_ac": "O54754-1", "start_pos": "1265", "end_pos": "1265", "site_lbl": "Glu1265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" }, { "database": "PubMed", "id": "19401776", "url": "https://glygen.org/publication/PubMed/19401776" } ] } ] }, { "uniprot_canonical_ac": "O54754-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Val806", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Decreases substrate affinity and activity on benzaldehyde, phthalazine and acetaldehyde, while increases affinity for more hydrophobic aldehydes like retinal. Abolishes catalytic activity; when associated with R-884.", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" }, { "database": "PubMed", "id": "19401776", "url": "https://glygen.org/publication/PubMed/19401776" } ] } ] }, { "uniprot_canonical_ac": "O54754-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Met884", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Abolishes catalytic activity on phthalazine and acetaldehyde. Decreases catalytic efficiency on benzaldehyde and retinal. Abolishes catalytic activity; when associated with E-806.", "evidence": [ { "database": "UniProtKB", "id": "O54754", "url": "https://www.uniprot.org/uniprotkb/O54754" }, { "database": "PubMed", "id": "19401776", "url": "https://glygen.org/publication/PubMed/19401776" } ] } ] } ], "record_id": "O54754-1" }, { "uniprot_canonical_ac": "O35841-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 56785.0, "gene_names": "Api5;AAC-11;API-5;Api5", "protein_name": "Apoptosis inhibitor 5", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" }, { "name": "negative regulation of fibroblast apoptotic process", "id": "GO:2000270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000270", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35841-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Asn491", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 491, "start_aa": "Asn", "end_pos": 491, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn491", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2132", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2132" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Ser464", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35841" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35841", "url": "https://www.uniprot.org/uniprotkb/O35841" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35841" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Tyr488", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "2", "chr_pos": "94248631", "evidence": [ { "id": "rs3540533599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540533599" } ] } ] }, { "uniprot_canonical_ac": "O35841-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "2", "chr_pos": "94248616", "evidence": [ { "id": "rs3540535463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540535463" } ] } ] } ], "record_id": "O35841-1" }, { "uniprot_canonical_ac": "P10107-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 346, "chemical_mass": 38734.0, "gene_names": "Anxa1;Anx-1;Anx-A1;Anx1;Anxa1;C430014K04Rik;Lpc-1;Lpc1", "protein_name": "Annexin A1", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1350", "name": "paranasal sinus benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:1350", "evidence": [ { "id": "1350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ], "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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "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:2734", "name": "keratosis follicularis", "description": "", "url": "https://disease-ontology.org/term/DOID:2734", "evidence": [ { "id": "2734", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2734" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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: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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "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: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:6498", "name": "seborrheic keratosis", "description": "", "url": "https://disease-ontology.org/term/DOID:6498", "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "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: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 } ], "biological_process": [ { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of hormone secretion", "id": "GO:0046883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046883", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "alpha-beta T cell differentiation", "id": "GO:0046632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046632", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "granulocyte chemotaxis", "id": "GO:0071621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071621", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "neutrophil homeostasis", "id": "GO:0001780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001780", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of leukocyte migration", "id": "GO:0002685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002685", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "myoblast migration involved in skeletal muscle regeneration", "id": "GO:0014839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014839", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin biosynthetic process", "id": "GO:0031394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031394", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "regulation of interleukin-1 production", "id": "GO:0032652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032652", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of neutrophil apoptotic process", "id": "GO:0033031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033031", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell differentiation", "id": "GO:0045627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045627", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell differentiation", "id": "GO:0045629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045629", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "negative regulation of exocytosis", "id": "GO:0045920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045920", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "prolactin secretion", "id": "GO:0070459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070459", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "neutrophil clearance", "id": "GO:0097350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097350", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "negative regulation of interleukin-8 production", "id": "GO:0032717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032717", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" } ], "cellular_component": [ { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "mast cell granule", "id": "GO:0042629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042629", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "phospholipase A2 inhibitor activity", "id": "GO:0019834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019834", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "double-stranded DNA helicase activity", "id": "GO:0036121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036121", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" }, { "name": "DNA/DNA annealing activity", "id": "GO:1990814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990814", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10107-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Thr136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Tyr21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P10107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10107" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" }, { "database": "iPTMnet", "id": "P10107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10107" }, { "database": "PubMed", "id": "11482905", "url": "https://glygen.org/publication/PubMed/11482905" }, { "database": "PubMed", "id": "16720734", "url": "https://glygen.org/publication/PubMed/16720734" }, { "database": "PubMed", "id": "26803520", "url": "https://glygen.org/publication/PubMed/26803520" }, { "database": "PubMed", "id": "27426034", "url": "https://glygen.org/publication/PubMed/27426034" }, { "database": "PubMed", "id": "32133417", "url": "https://glygen.org/publication/PubMed/32133417" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ser37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" }, { "database": "iPTMnet", "id": "P10107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10107" }, { "database": "PubMed", "id": "27426034", "url": "https://glygen.org/publication/PubMed/27426034" } ] } ] }, { "uniprot_canonical_ac": "P10107-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Lys257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Strongly decreased sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P10107", "url": "https://www.uniprot.org/uniprotkb/P10107" }, { "database": "PubMed", "id": "23727357", "url": "https://glygen.org/publication/PubMed/23727357" } ] } ] } ], "record_id": "P10107-1" }, { "uniprot_canonical_ac": "Q8R1L8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 198, "chemical_mass": 22063.0, "gene_names": "Angptl8;Angptl8;EG624219;Gm6484;Rifl", "protein_name": "Angiopoietin-like protein 8", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "negative regulation of lipoprotein lipase activity", "id": "GO:0051005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051005", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" }, { "name": "regulation of lipoprotein metabolic process", "id": "GO:0050746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050746", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q8R1L8", "url": "https://www.uniprot.org/uniprotkb/Q8R1L8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R1L8-1" }, { "uniprot_canonical_ac": "Q9D3J8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 213, "chemical_mass": 22119.0, "gene_names": "Amtn;5430427O21Rik;Amtn", "protein_name": "Amelotin", "disease": [ { "disease_id": "DOID:0080243", "name": "amelogenesis imperfecta type 3B", "description": "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene.", "url": "https://disease-ontology.org/term/DOID:0080243", "evidence": [ { "id": "0080243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080243" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "positive regulation of biomineral tissue development", "id": "GO:0070169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070169", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "positive regulation of enamel mineralization", "id": "GO:0070175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070175", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J8", "url": "https://www.uniprot.org/uniprotkb/Q9D3J8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D3J8-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Thr33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 33, "start_aa": "Thr", "end_pos": 33, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr33", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9D3J8-1" }, { "uniprot_canonical_ac": "Q9EPJ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 45288.0, "gene_names": "Arfgap1;Arf1gap;Arfgap1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 1", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" }, { "name": "regulation of ARF protein signal transduction", "id": "GO:0032012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032012", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Thr404", "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": 404, "start_aa": "Thr", "end_pos": 404, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr404", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9EPJ9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Thr189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SWT->NWT).", "chr_id": "2", "chr_pos": "180622994", "evidence": [ { "id": "rs3388616170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616170" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Thr349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EPJ9-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ9" } ] } ] } ], "record_id": "Q9EPJ9-1" }, { "uniprot_canonical_ac": "P59017-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 434, "chemical_mass": 46719.0, "gene_names": "Bcl2l13;BCL-RAMBO;Bcl2l13;E430016C20Rik;Mil-1;Mil1", "protein_name": "Bcl-2-like protein 13", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" } ], "biological_process": [ { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "oxidative phosphorylation", "id": "GO:0006119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006119", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" }, { "name": "left ventricular cardiac muscle tissue morphogenesis", "id": "GO:0003220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003220", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59017-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Thr345", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 345, "start_aa": "Thr", "end_pos": 345, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr345", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Ser258", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" } ] } ] }, { "uniprot_canonical_ac": "P59017-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59017", "url": "https://www.uniprot.org/uniprotkb/P59017" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "P59017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59017" } ] } ] } ], "record_id": "P59017-1" }, { "uniprot_canonical_ac": "O54827-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1508, "chemical_mass": 168788.0, "gene_names": "Atp10a;Atp10a;Atp10c;Atpc5;Pfatp;pfatp", "protein_name": "Phospholipid-transporting ATPase VA", "disease": [ { "disease_id": "DOID:0070221", "name": "progressive familial intrahepatic cholestasis", "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.", "url": "https://disease-ontology.org/term/DOID:0070221", "evidence": [ { "id": "0070221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070221" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "ATPase-coupled intramembrane lipid transporter activity", "id": "GO:0140326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140326", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "phosphatidylcholine flippase activity", "id": "GO:0140345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140345", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "glycosylceramide flippase activity", "id": "GO:0140351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140351", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "phospholipid-translocating ATPase complex", "id": "GO:1990531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990531", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" } ], "biological_process": [ { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" }, { "name": "positive regulation of membrane tubulation", "id": "GO:1903527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903527", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54827-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Ser1074", "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": 1074, "start_aa": "Ser", "end_pos": 1074, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1074", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "O54827", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54827" } ] } ] }, { "uniprot_canonical_ac": "O54827-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54827", "url": "https://www.uniprot.org/uniprotkb/O54827" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54827", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54827" } ] } ] } ], "record_id": "O54827-1" }, { "uniprot_canonical_ac": "Q62415-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1087, "chemical_mass": 119170.0, "gene_names": "Ppp1r13b;ASPP1;Aspp1;Ppp1r13b;Tp53bp2;Trp53bp2;p85", "protein_name": "Apoptosis-stimulating of p53 protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" } ], "molecular_function": [ { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62415-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asn209", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IMNGNLSAEIER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 209, "start_aa": "Asn", "end_pos": 209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn209", "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": "Q62415-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Asn328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNGTSSPQSPLSTSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "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": "Q62415-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "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": 330, "start_aa": "Thr", "end_pos": 330, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q62415", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62415" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Thr776", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 776, "start_aa": "Thr", "end_pos": 776, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr776", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Ser679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Ser708", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62415", "url": "https://www.uniprot.org/uniprotkb/Q62415" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62415", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62415" } ] } ] }, { "uniprot_canonical_ac": "Q62415-1", "start_pos": "985", "end_pos": "985", "site_lbl": "Ile985", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IET->NET).", "chr_id": "12", "chr_pos": "111797962", "evidence": [ { "id": "rs3389270078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389270078" } ] } ] } ], "record_id": "Q62415-1" }, { "uniprot_canonical_ac": "Q6PIE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1020, "chemical_mass": 112217.0, "gene_names": "Atp1a2;Atp1a2;Atpa-3;mKIAA0778", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-2", "disease": [ { "disease_id": "DOID:0050635", "name": "alternating hemiplegia of childhood", "description": "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.", "url": "https://disease-ontology.org/term/DOID:0050635", "evidence": [ { "id": "0050635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050635" } ], "weight": 0.0 }, { "disease_id": "DOID:0060178", "name": "familial hemiplegic migraine", "description": "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.", "url": "https://disease-ontology.org/term/DOID:0060178", "evidence": [ { "id": "0060178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060178" } ], "weight": 0.0 }, { "disease_id": "DOID:0070384", "name": "developmental and epileptic encephalopathy 98", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0070384", "evidence": [ { "id": "0070384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070384" } ], "weight": 0.0 }, { "disease_id": "DOID:0111182", "name": "familial hemiplegic migraine 2", "description": "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.", "url": "https://disease-ontology.org/term/DOID:0111182", "evidence": [ { "id": "0111182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111182" } ], "weight": 0.0 }, { "disease_id": "DOID:0111558", "name": "Charcot-Marie-Tooth disease type 2DD", "description": "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.", "url": "https://disease-ontology.org/term/DOID:0111558", "evidence": [ { "id": "0111558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111558" } ], "weight": 0.0 }, { "disease_id": "DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.", "url": "https://disease-ontology.org/term/DOID:10024", "evidence": [ { "id": "10024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:14264", "name": "benign neonatal seizures", "description": "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.", "url": "https://disease-ontology.org/term/DOID:14264", "evidence": [ { "id": "14264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14264" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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:863", "name": "nervous system disease", "description": "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:863", "evidence": [ { "id": "863", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:863" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "potassium ion binding", "id": "GO:0030955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030955", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "ATPase-coupled monoatomic cation transmembrane transporter activity", "id": "GO:0019829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019829", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "steroid hormone binding", "id": "GO:1990239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sodium ion binding", "id": "GO:0031402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sodium:potassium-exchanging ATPase complex", "id": "GO:0005890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "cellular response to steroid hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "fear response", "id": "GO:0042596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042596", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "negative regulation of striated muscle contraction", "id": "GO:0045988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045988", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "response to potassium ion", "id": "GO:0035864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035864", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "neurotransmitter uptake", "id": "GO:0001504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001504", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of striated muscle contraction", "id": "GO:0006942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006942", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "negative regulation of heart contraction", "id": "GO:0045822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045822", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "negative regulation of calcium ion transmembrane transport", "id": "GO:1903170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903170", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "response to glycoside", "id": "GO:1903416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903416", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "neuronal action potential propagation", "id": "GO:0019227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019227", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "L-ascorbic acid metabolic process", "id": "GO:0019852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019852", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "amygdala development", "id": "GO:0021764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021764", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "olfactory cortex development", "id": "GO:0021989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021989", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Asn213", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G34071GT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IISSHGCKVDNSSLTGESEPQTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "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": "Q6PIE5-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Asn437", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2726", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2726" } ] }, { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVFKAGQENISVSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "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": "Q6PIE5-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "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": 45, "start_aa": "Ser", "end_pos": 45, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser45", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIE5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G91445YQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPKVAEIPFNSTNKYQLSIHER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 481, "start_aa": "Asn", "end_pos": 481, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn481", "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": "Q6PIE5-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ser559", "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": 559, "start_aa": "Ser", "end_pos": 559, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser559", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIE5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIE5" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIE5" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "172112218", "evidence": [ { "id": "rs3388516587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516587" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Thr614", "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": 614, "start_aa": "Thr", "end_pos": 614, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr614", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIE5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Asn635", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G60967DT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVGIISEGNETVEDIAARLNIPVSQVNPREAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 635, "start_aa": "Asn", "end_pos": 635, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn635", "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": "Q6PIE5-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "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": 650, "start_aa": "Ser", "end_pos": 650, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser650", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIE5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "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": 665, "start_aa": "Ser", "end_pos": 665, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser665", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIE5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ser587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Ser672", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIE5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Ser826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] }, { "uniprot_canonical_ac": "Q6PIE5-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Ser940", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIE5", "url": "https://www.uniprot.org/uniprotkb/Q6PIE5" } ] } ] } ], "record_id": "Q6PIE5-1" }, { "uniprot_canonical_ac": "Q9D3D9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 168, "chemical_mass": 17600.0, "gene_names": "Atp5f1d;0610008F14Rik;1500000I11Rik;Atp5d;Atp5f1d", "protein_name": "ATP synthase F(1) complex subunit delta, mitochondrial", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0070463", "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 5", "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0070463", "evidence": [ { "id": "0070463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070463" } ], "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" } ], "biological_process": [ { "name": "proton motive force-driven ATP synthesis", "id": "GO:0015986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015986", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "mitochondrial proton-transporting ATP synthase complex assembly", "id": "GO:0033615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033615", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9D3D9", "url": "https://www.uniprot.org/uniprotkb/Q9D3D9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D3D9-1" }, { "uniprot_canonical_ac": "O35143-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 106, "chemical_mass": 12159.0, "gene_names": "Atp5if1;Atp5if1;Atpif1;Atpi;IF(1);If1", "protein_name": "ATPase inhibitor, mitochondrial", "disease": [ { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "mitochondrial depolarization", "id": "GO:0051882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051882", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "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": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "regulation of protein targeting to mitochondrion", "id": "GO:1903214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903214", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "negative regulation of hydrolase activity", "id": "GO:0051346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051346", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "positive regulation of proteolysis involved in protein catabolic process", "id": "GO:1903052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903052", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "regulation of ATP metabolic process", "id": "GO:1903578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903578", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905091", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial ATP synthesis coupled proton transport", "id": "GO:1905707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905707", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "angiostatin binding", "id": "GO:0043532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043532", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "ATPase inhibitor activity", "id": "GO:0042030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042030", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "mitochondrial proton-transporting ATP synthase complex binding", "id": "GO:0140260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140260", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35143-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35143", "url": "https://www.uniprot.org/uniprotkb/O35143" } ] } ] } ], "record_id": "O35143-1" }, { "uniprot_canonical_ac": "P56135-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 88, "chemical_mass": 10344.0, "gene_names": "Atp5mf;1110019H14Rik;Atp5j2;Atp5mf", "protein_name": "ATP synthase F(0) complex subunit f, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" } ], "biological_process": [ { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" }, { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56135-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "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": 32, "start_aa": "Ser", "end_pos": 32, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser32", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P56135", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P56135" } ] } ] }, { "uniprot_canonical_ac": "P56135-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56135", "url": "https://www.uniprot.org/uniprotkb/P56135" } ] } ] }, { "uniprot_canonical_ac": "P56135-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "5", "chr_pos": "145121413", "evidence": [ { "id": "rs3388809105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388809105" } ] } ] } ], "record_id": "P56135-1" }, { "uniprot_canonical_ac": "O88848-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 186, "chemical_mass": 20959.0, "gene_names": "Arl6;1110018H24Rik;2210411E14Rik;Arl6;BBS3;Bbs3", "protein_name": "ADP-ribosylation factor-like protein 6", "disease": [ { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110123", "name": "Bardet-Biedl syndrome 1", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110123", "evidence": [ { "id": "0110123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110123" } ], "weight": 0.0 }, { "disease_id": "DOID:0110125", "name": "Bardet-Biedl syndrome 3", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.", "url": "https://disease-ontology.org/term/DOID:0110125", "evidence": [ { "id": "0110125", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110125" } ], "weight": 0.0 }, { "disease_id": "DOID:0110370", "name": "retinitis pigmentosa 55", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2.", "url": "https://disease-ontology.org/term/DOID:0110370", "evidence": [ { "id": "0110370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110370" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "NAD+-protein mono-ADP-ribosyltransferase activity", "id": "GO:1990404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990404", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "protein localization to non-motile cilium", "id": "GO:0097499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097499", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" }, { "name": "protein transport from ciliary membrane to plasma membrane", "id": "GO:1903445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903445", "evidence": [ { "database": "UniProtKB", "id": "O88848", "url": "https://www.uniprot.org/uniprotkb/O88848" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88848-1" }, { "uniprot_canonical_ac": "P50429-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 534, "chemical_mass": 59647.0, "gene_names": "Arsb;1110007C02Rik;Arsb;As-1r;As-1s;As-1t;As-1;As1-r;As1-s;As1-t;As1;Asr-1;Ast-1", "protein_name": "Arylsulfatase B", "disease": [ { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "N-acetylgalactosamine-6-sulfatase activity", "id": "GO:0043890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043890", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "arylsulfatase activity", "id": "GO:0004065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004065", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "N-acetylgalactosamine-4-sulfatase activity", "id": "GO:0003943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003943", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "sulfuric ester hydrolase activity", "id": "GO:0008484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008484", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" } ], "biological_process": [ { "name": "dermatan sulfate proteoglycan catabolic process", "id": "GO:0030209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030209", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "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": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration", "id": "GO:0010632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010632", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan catabolic process", "id": "GO:0030207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030207", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "colon epithelial cell migration", "id": "GO:0061580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061580", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "anterior head development", "id": "GO:0097065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097065", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P50429", "url": "https://www.uniprot.org/uniprotkb/P50429" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50429-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "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": 187, "start_aa": "Ser", "end_pos": 187, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser187", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P50429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P50429" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asn189", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95732YS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GFDTYFGYLLGSEDYYTHEACAPIESLNGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 189, "start_aa": "Asn", "end_pos": 189, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn189", "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" } ] }, { "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": 189, "start_aa": "Asn", "end_pos": 189, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn189", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Thr191", "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": 191, "start_aa": "Thr", "end_pos": 191, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr191", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P50429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P50429" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Asn280", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IYAGMVSLMDEAVGNVTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 280, "start_aa": "Asn", "end_pos": 280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn280", "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" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 280, "start_aa": "Asn", "end_pos": 280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn280", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2134", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2134" } ] }, { "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": 280, "start_aa": "Asn", "end_pos": 280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn280", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Asn292", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G51494PB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IYAGMVSLMDEAVGNVTKALKSHGLWNNTVFIFSTDNGGQTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "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" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2134", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2134" } ] }, { "glytoucan_ac": "G81295CK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2134", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2134" } ] }, { "glytoucan_ac": "G93180LE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2134", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2134" } ] }, { "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": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Thr357", "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": 357, "start_aa": "Thr", "end_pos": 357, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr357", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P50429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P50429" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Asn367", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 367, "start_aa": "Asn", "end_pos": 367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn367", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Asn410", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28905MY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VELLHNIDQDFFDGLPCPGKNMTPAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 410, "start_aa": "Asn", "end_pos": 410, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn410", "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": "P50429-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DDSFPLEHSAFNTSIHAGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 427, "start_aa": "Asn", "end_pos": 427, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn427", "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" } ] }, { "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": 427, "start_aa": "Asn", "end_pos": 427, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn427", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Asn459", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "P50429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50429#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Pro228", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NHP->NHS); glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93930715", "evidence": [ { "id": "rs3389304655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389304655" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Leu125", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93926604", "evidence": [ { "id": "rs3389299630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389299630" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Lys128", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93926615", "evidence": [ { "id": "rs3389299627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389299627" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Trp147", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93926670", "evidence": [ { "id": "rs3389308260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389308260" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Pro184", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93930584", "evidence": [ { "id": "rs261143205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261143205" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Cys193", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93930611", "evidence": [ { "id": "rs3389298780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298780" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Val223", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93930700", "evidence": [ { "id": "rs30380711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30380711" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ala225", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93930707", "evidence": [ { "id": "rs3550545189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550545189" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Leu233", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944007", "evidence": [ { "id": "rs224748419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224748419" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Tyr236", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944017", "evidence": [ { "id": "rs3389294969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294969" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Leu237", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944019", "evidence": [ { "id": "rs3389280889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389280889" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Leu24", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93908356", "evidence": [ { "id": "rs3550689143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550689143" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Glu250", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944060", "evidence": [ { "id": "rs3389224654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389224654" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Tyr252", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944064", "evidence": [ { "id": "rs3389299579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389299579" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Leu29", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93908371", "evidence": [ { "id": "rs29579287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29579287" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Asp301", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93944211", "evidence": [ { "id": "rs3389299346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389299346" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Leu30", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93908374", "evidence": [ { "id": "rs1133271595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133271595" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Arg318", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998645", "evidence": [ { "id": "rs3404567038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404567038" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Trp323", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998662", "evidence": [ { "id": "rs3404518116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404518116" } ] }, { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998661", "evidence": [ { "id": "rs3404506552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404506552" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Glu324", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998663", "evidence": [ { "id": "rs3404617379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404617379" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Leu348", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998735", "evidence": [ { "id": "rs3389294971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294971" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998747", "evidence": [ { "id": "rs30365586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30365586" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Trp378", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "93998825", "evidence": [ { "id": "rs3389263860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389263860" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Lys415", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94075761", "evidence": [ { "id": "rs3389270716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389270716" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Leu421", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94075780", "evidence": [ { "id": "rs3389304738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389304738" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077007", "evidence": [ { "id": "rs30366977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30366977" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ile463", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077022", "evidence": [ { "id": "rs3389299347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389299347" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Pro482", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077079", "evidence": [ { "id": "rs3389294593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294593" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Arg490", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077103", "evidence": [ { "id": "rs219845882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219845882" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Asn498", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077127", "evidence": [ { "id": "rs3389263858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389263858" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Leu503", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077142", "evidence": [ { "id": "rs3389290066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389290066" } ] } ] }, { "uniprot_canonical_ac": "P50429-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Phe515", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "13", "chr_pos": "94077177", "evidence": [ { "id": "rs3389294885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294885" } ] } ] } ], "record_id": "P50429-1" }, { "uniprot_canonical_ac": "Q64364-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 169, "chemical_mass": 19238.0, "gene_names": "Cdkn2a;ARF-INK4a;Arf;Cdkn2a;INK4a-ARF;Ink4a/Arf;MTS1;P16ink4a;Pctr1;p16(INK4a);p16INK4a;p16;p19;p19ARF", "protein_name": "Tumor suppressor ARF", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "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:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0111511", "name": "melanoma and neural system tumor syndrome", "description": "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.", "url": "https://disease-ontology.org/term/DOID:0111511", "evidence": [ { "id": "0111511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111511" } ], "weight": 0.0 }, { "disease_id": "DOID:10041", "name": "dysplastic nevus syndrome", "description": "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.", "url": "https://disease-ontology.org/term/DOID:10041", "evidence": [ { "id": "10041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10041" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1967", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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: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:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:3247", "name": "rhabdomyosarcoma", "description": "A skeletal muscle cancer that arise from skeletal muscle progenitors.", "url": "https://disease-ontology.org/term/DOID:3247", "evidence": [ { "id": "3247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3247" } ], "weight": 0.0 }, { "disease_id": "DOID:3304", "name": "germinoma", "description": "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.", "url": "https://disease-ontology.org/term/DOID:3304", "evidence": [ { "id": "3304", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3304" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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:4488", "name": "sarcomatoid mesothelioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4488", "evidence": [ { "id": "4488", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4488" } ], "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: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:6171", "name": "uterine carcinosarcoma", "description": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.", "url": "https://disease-ontology.org/term/DOID:6171", "evidence": [ { "id": "6171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6171" } ], "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:6846", "name": "familial melanoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6846", "evidence": [ { "id": "6846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6846" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "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: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 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell apoptotic process", "id": "GO:0034393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034393", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of macrophage apoptotic process", "id": "GO:2000111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000111", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein localization to nucleolus", "id": "GO:1902570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902570", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleolus", "id": "GO:1904750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904750", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "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": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of nucleocytoplasmic transport", "id": "GO:0046822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046822", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "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": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "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": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "mitochondrial depolarization", "id": "GO:0051882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051882", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of signal transduction by p53 class mediator", "id": "GO:1901798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901798", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of proteolysis involved in protein catabolic process", "id": "GO:1903051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903051", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of protein targeting to mitochondrion", "id": "GO:1903214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903214", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000059", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of protein neddylation", "id": "GO:2000435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000435", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in mammary gland involution", "id": "GO:0060058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060058", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte proliferation", "id": "GO:2000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000346", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of mammary gland epithelial cell proliferation", "id": "GO:0033600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033600", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "keratinocyte proliferation", "id": "GO:0043616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043616", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "nuclear body organization", "id": "GO:0030575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030575", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "negative regulation of ribosome biogenesis", "id": "GO:0090071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090071", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "oncogene-induced cell senescence", "id": "GO:0090402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090402", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "regulation of ubiquitin protein ligase activity", "id": "GO:1904666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904666", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "senescence-associated heterochromatin focus", "id": "GO:0035985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035985", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "granular component", "id": "GO:0001652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001652", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase inhibitor activity", "id": "GO:0004861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004861", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase inhibitor activity", "id": "GO:0055105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055105", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "MDM2/MDM4 family protein binding", "id": "GO:0097371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "ubiquitin ligase inhibitor activity", "id": "GO:1990948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990948", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" }, { "name": "ligase inhibitor activity", "id": "GO:0055104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055104", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64364-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ala120", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] }, { "uniprot_canonical_ac": "Q64364-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Gly64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "G", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "P51480", "url": "https://www.uniprot.org/uniprotkb/P51480" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "P51480", "url": "https://www.uniprot.org/uniprotkb/P51480" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] }, { "uniprot_canonical_ac": "Q64364-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P51480", "url": "https://www.uniprot.org/uniprotkb/P51480" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] }, { "uniprot_canonical_ac": "Q64364-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Leu85", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] }, { "uniprot_canonical_ac": "Q64364-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Pro93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] }, { "uniprot_canonical_ac": "Q64364-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Arg97", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64364", "url": "https://www.uniprot.org/uniprotkb/Q64364" }, { "database": "PubMed", "id": "9012842", "url": "https://glygen.org/publication/PubMed/9012842" } ] } ] } ], "record_id": "Q64364-1" }, { "uniprot_canonical_ac": "Q7TQH0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1049, "chemical_mass": 110649.0, "gene_names": "Atxn2l;A2D;A2LG;A2RP;A2lp;Atxn2l;Atxnl2", "protein_name": "Ataxin-2-like protein", "disease": [ { "disease_id": "DOID:0050955", "name": "spinocerebellar ataxia 2", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.", "url": "https://disease-ontology.org/term/DOID:0050955", "evidence": [ { "id": "0050955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050955" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 }, { "disease_id": "DOID:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:1441", "evidence": [ { "id": "1441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1441" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPPQSPVFEGVYNNSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "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": "Q7TQH0-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Thr19", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 19, "start_aa": "Thr", "end_pos": 19, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr19", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Thr266", "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": 266, "start_aa": "Thr", "end_pos": 266, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr266", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "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": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asn387", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PGLSSLPPRGPHHLDNSSPGPGSEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 387, "start_aa": "Asn", "end_pos": 387, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn387", "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": "Q7TQH0-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Thr419", "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": 419, "start_aa": "Thr", "end_pos": 419, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr419", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "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": 421, "start_aa": "Ser", "end_pos": 421, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser421", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "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": 432, "start_aa": "Ser", "end_pos": 432, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser432", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Thr436", "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": 436, "start_aa": "Thr", "end_pos": 436, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr436", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 436, "start_aa": "Thr", "end_pos": 436, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr436", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "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": 437, "start_aa": "Ser", "end_pos": 437, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser437", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ser480", "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": 480, "start_aa": "Ser", "end_pos": 480, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser480", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Thr621", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 621, "start_aa": "Thr", "end_pos": 621, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr621", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "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": 672, "start_aa": "Thr", "end_pos": 672, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr672", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "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": 677, "start_aa": "Ser", "end_pos": 677, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser677", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Ser681", "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": 681, "start_aa": "Ser", "end_pos": 681, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser681", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Thr682", "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": 682, "start_aa": "Thr", "end_pos": 682, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr682", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "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": 683, "start_aa": "Ser", "end_pos": 683, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser683", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Thr686", "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": 686, "start_aa": "Thr", "end_pos": 686, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr686", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "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": 687, "start_aa": "Ser", "end_pos": 687, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser687", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q7TQH0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQH0" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q7TQH0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TQH0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Tyr116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Tyr262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Tyr307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Tyr347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Ser407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Ser453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "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": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Ser499", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "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": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ser560", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Ser562", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Ser597", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Thr635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" } ] } ] }, { "uniprot_canonical_ac": "Q7TQH0-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQH0", "url": "https://www.uniprot.org/uniprotkb/Q7TQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQH0" } ] } ] } ], "record_id": "Q7TQH0-1" }, { "uniprot_canonical_ac": "Q8BHS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 379, "chemical_mass": 42620.0, "gene_names": "Armcx3;1200004E24Rik;ALEX3;Alex3;Armcx3", "protein_name": "Armadillo repeat-containing X-linked protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHS6-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asn189", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALIVLNNLSVNAENQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 189, "start_aa": "Asn", "end_pos": 189, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn189", "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": "Q8BHS6-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNSSVQLAGLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "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": "Q8BHS6-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BHS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHS6" } ] } ] }, { "uniprot_canonical_ac": "Q8BHS6-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ser61", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" }, { "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": "Q8BHS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHS6" } ] } ] }, { "uniprot_canonical_ac": "Q8BHS6-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BHS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHS6" } ] } ] }, { "uniprot_canonical_ac": "Q8BHS6-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS6", "url": "https://www.uniprot.org/uniprotkb/Q8BHS6" } ] } ] } ], "record_id": "Q8BHS6-1" }, { "uniprot_canonical_ac": "Q8BW86-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BW86", "url": "https://www.uniprot.org/uniprotkb/Q8BW86" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 850, "chemical_mass": 94758.0, "gene_names": "Arhgef33;Arhgef33;Gm941", "protein_name": "Rho guanine nucleotide exchange factor 33", "disease": [], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8BW86", "url": "https://www.uniprot.org/uniprotkb/Q8BW86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BW86-1" }, { "uniprot_canonical_ac": "Q8BXL7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 201, "chemical_mass": 22659.0, "gene_names": "Arfrp1;1500006I01Rik;Arfrp1", "protein_name": "ADP-ribosylation factor-related protein 1", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "Q8BXL7", "url": "https://www.uniprot.org/uniprotkb/Q8BXL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BXL7-1" }, { "uniprot_canonical_ac": "Q91YI1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 516, "chemical_mass": 56441.0, "gene_names": "Atg13;1110053A20Rik;Atg13;D2Ertd391e;Harbi1;Kiaa0652", "protein_name": "Autophagy-related protein 13", "disease": [], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "response to mitochondrial depolarisation", "id": "GO:0098780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098780", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "regulation of protein lipidation", "id": "GO:1903059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903059", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "Atg1/ULK1 kinase complex", "id": "GO:1990316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990316", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III", "id": "GO:0035032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035032", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YI1-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 135, "start_aa": "Thr", "end_pos": 135, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr135", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91YI1-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ] } ] }, { "uniprot_canonical_ac": "Q91YI1-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ] } ] }, { "uniprot_canonical_ac": "Q91YI1-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI1", "url": "https://www.uniprot.org/uniprotkb/Q91YI1" } ] } ] } ], "record_id": "Q91YI1-1" }, { "uniprot_canonical_ac": "Q91YY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 289, "chemical_mass": 33289.0, "gene_names": "Atpaf2;ATP12p;ATP12;Atpaf2", "protein_name": "ATP synthase mitochondrial F1 complex assembly factor 2", "disease": [ { "disease_id": "DOID:0050768", "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 1", "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:0050768", "evidence": [ { "id": "0050768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050768" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial proton-transporting ATP synthase complex assembly", "id": "GO:0033615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033615", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex assembly", "id": "GO:0043461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043461", "evidence": [ { "database": "UniProtKB", "id": "Q91YY4", "url": "https://www.uniprot.org/uniprotkb/Q91YY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91YY4-1" }, { "uniprot_canonical_ac": "Q99J83-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 275, "chemical_mass": 32402.0, "gene_names": "Atg5;2010107M05Rik;3110067M24Rik;Apg5l;Atg5l;Atg5;Paddy", "protein_name": "Autophagy protein 5", "disease": [ { "disease_id": "DOID:0050951", "name": "hereditary ataxia", "description": "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.", "url": "https://disease-ontology.org/term/DOID:0050951", "evidence": [ { "id": "0050951", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050951" } ], "weight": 0.0 }, { "disease_id": "DOID:0080259", "name": "autosomal recessive spinocerebellar ataxia 25", "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0080259", "evidence": [ { "id": "0080259", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080259" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "mitochondria-associated endoplasmic reticulum membrane contact site", "id": "GO:0044233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044233", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "Atg12-Atg5-Atg16 complex", "id": "GO:0034274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034274", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "phagophore", "id": "GO:0061908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061908", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of viral translation", "id": "GO:1904973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904973", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "chaperone-mediated autophagy", "id": "GO:0061684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061684", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in immune response", "id": "GO:0002718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002718", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative stranded viral RNA replication", "id": "GO:0039689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039689", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "response to iron(II) ion", "id": "GO:0010040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010040", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "protein lipidation involved in autophagosome assembly", "id": "GO:0061739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061739", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis", "id": "GO:0050765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050765", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "response to fungus", "id": "GO:0009620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009620", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous antigen", "id": "GO:0019883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019883", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "otolith development", "id": "GO:0048840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048840", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "cellular response to nitrosative stress", "id": "GO:0071500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071500", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "response to fluoride", "id": "GO:1902617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902617", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of defense response to virus", "id": "GO:0050687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050687", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "negative regulation of autophagic cell death", "id": "GO:1904093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904093", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of autophagosome maturation", "id": "GO:1901096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901096", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" }, { "name": "positive regulation of stress granule assembly", "id": "GO:0062029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062029", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" } ], "molecular_function": [ { "name": "Atg8-family ligase activity", "id": "GO:0019776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019776", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J83-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Lys130", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of conjugation.", "evidence": [ { "database": "UniProtKB", "id": "Q99J83", "url": "https://www.uniprot.org/uniprotkb/Q99J83" }, { "database": "PubMed", "id": "11266458", "url": "https://glygen.org/publication/PubMed/11266458" } ] } ] } ], "record_id": "Q99J83-1" }, { "uniprot_canonical_ac": "Q9CX83-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 50643.0, "gene_names": "Armcx1;3010033I09Rik;ALEX1;Armcx1", "protein_name": "Armadillo repeat-containing X-linked protein 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "pmid": "" } ], "biological_process": [ { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q9CX83", "url": "https://www.uniprot.org/uniprotkb/Q9CX83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CX83-1" }, { "uniprot_canonical_ac": "Q9D0L7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 33311.0, "gene_names": "Armc10;2810037C14Rik;Armc10;Svh", "protein_name": "Armadillo repeat-containing protein 10", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "positive regulation of growth rate", "id": "GO:0040010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040010", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" } ], "molecular_function": [ { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" }, { "name": "DNA binding domain binding", "id": "GO:0050692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050692", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D0L7-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INSLNQSIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "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": "Q9D0L7-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9D0L7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L7" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L7-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L7", "url": "https://www.uniprot.org/uniprotkb/Q9D0L7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D0L7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L7" } ] } ] } ], "record_id": "Q9D0L7-1" }, { "uniprot_canonical_ac": "O70191-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 283, "chemical_mass": 30331.0, "gene_names": "Atf5;AFTA;Atf5;Atf7;Atfx;Nap1;ODA-10", "protein_name": "Cyclic AMP-dependent transcription factor ATF-5", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "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": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "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": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "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": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "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": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "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": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "olfactory bulb interneuron development", "id": "GO:0021891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021891", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "cerebellar granule cell precursor proliferation", "id": "GO:0021930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021930", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "regulation of centrosome cycle", "id": "GO:0046605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046605", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "negative regulation of cell cycle G2/M phase transition", "id": "GO:1902750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902750", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "olfactory bulb interneuron differentiation", "id": "GO:0021889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021889", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "olfactory lobe development", "id": "GO:0021988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021988", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70191-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" } ] } ] }, { "uniprot_canonical_ac": "O70191-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Lys29", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Enhances interaction with CEBPB.", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" }, { "database": "PubMed", "id": "24216764", "url": "https://glygen.org/publication/PubMed/24216764" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases acetylation levels and interaction with CEBPB.", "evidence": [ { "database": "UniProtKB", "id": "O70191", "url": "https://www.uniprot.org/uniprotkb/O70191" }, { "database": "PubMed", "id": "24216764", "url": "https://glygen.org/publication/PubMed/24216764" } ] } ] } ], "record_id": "O70191-1" }, { "uniprot_canonical_ac": "Q03265-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 553, "chemical_mass": 59753.0, "gene_names": "Atp5f1a;Atp5a1;Atp5f1a;Atpm;D18Ertd206e;Mom2", "protein_name": "ATP synthase F(1) complex subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0070461", "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4A", "description": "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:0070461", "evidence": [ { "id": "0070461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070461" } ], "weight": 0.0 }, { "disease_id": "DOID:0070462", "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B", "description": "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.", "url": "https://disease-ontology.org/term/DOID:0070462", "evidence": [ { "id": "0070462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070462" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0111498", "name": "combined oxidative phosphorylation deficiency 22", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.", "url": "https://disease-ontology.org/term/DOID:0111498", "evidence": [ { "id": "0111498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111498" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "angiostatin binding", "id": "GO:0043532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043532", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "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": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "proton motive force-driven ATP synthesis", "id": "GO:0015986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015986", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03265-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Thr134", "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": 134, "start_aa": "Thr", "end_pos": 134, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q03265", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03265" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Thr432", "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": 432, "start_aa": "Thr", "end_pos": 432, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr432", "evidence": [ { "id": "26358770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26358770" }, { "id": "Q03265", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "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": 76, "start_aa": "Ser", "end_pos": 76, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser76", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q03265", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03265" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 76, "start_aa": "Ser", "end_pos": 76, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser76", "evidence": [ { "id": "Q03265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03265#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" }, { "database": "iPTMnet", "id": "Q03265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03265" }, { "database": "PubMed", "id": "15648052", "url": "https://glygen.org/publication/PubMed/15648052" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ser166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03265" } ] } ] }, { "uniprot_canonical_ac": "Q03265-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03265", "url": "https://www.uniprot.org/uniprotkb/Q03265" } ] } ] } ], "record_id": "Q03265-1" }, { "uniprot_canonical_ac": "Q6P4T0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1914, "chemical_mass": 210939.0, "gene_names": "Atg2a;1810013C15Rik;A830054M12;Atg2a;Kiaa0404;mKIAA0404", "protein_name": "Autophagy-related protein 2 homolog A", "disease": [], "cellular_component": [ { "name": "organelle membrane contact site", "id": "GO:0044232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044232", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "phagophore", "id": "GO:0061908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061908", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "pexophagy", "id": "GO:0000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000425", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" }, { "name": "lipid transfer activity", "id": "GO:0120013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120013", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1546", "end_pos": "1546", "site_lbl": "Thr1546", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1546, "start_aa": "Thr", "end_pos": 1546, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1546", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Ser1246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P4T0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1282", "end_pos": "1282", "site_lbl": "Ser1282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Ser1290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1381", "end_pos": "1381", "site_lbl": "Ser1381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Ser764", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Ser869", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P4T0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" }, { "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": "Q6P4T0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Ser877", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P4T0", "url": "https://www.uniprot.org/uniprotkb/Q6P4T0" }, { "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": "Q6P4T0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P4T0" } ] } ] }, { "uniprot_canonical_ac": "Q6P4T0-1", "start_pos": "1895", "end_pos": "1895", "site_lbl": "Ile1895", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "19", "chr_pos": "6311806", "evidence": [ { "id": "rs3389429702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389429702" } ] } ] } ], "record_id": "Q6P4T0-1" }, { "uniprot_canonical_ac": "O70305-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1285, "chemical_mass": 136485.0, "gene_names": "Atxn2;Atx2;Sca2", "protein_name": "Ataxin-2", "disease": [ { "disease_id": "DOID:0050955", "name": "spinocerebellar ataxia 2", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.", "url": "https://disease-ontology.org/term/DOID:0050955", "evidence": [ { "id": "0050955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050955" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 }, { "disease_id": "DOID:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:1441", "evidence": [ { "id": "1441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1441" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "negative regulation of multicellular organism growth", "id": "GO:0040015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040015", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell differentiation", "id": "GO:0021702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021702", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70305-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Thr1174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1174, "start_aa": "Thr", "end_pos": 1174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1174", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "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": 182, "start_aa": "Ser", "end_pos": 182, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser182", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Thr186", "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": 186, "start_aa": "Thr", "end_pos": 186, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr186", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "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": 187, "start_aa": "Ser", "end_pos": 187, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser187", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "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": 189, "start_aa": "Ser", "end_pos": 189, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser189", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46220VJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GRNSSKGLPQPTISFDGIYANVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "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": "O70305-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Thr635", "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": 635, "start_aa": "Thr", "end_pos": 635, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr635", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ser636", "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": 636, "start_aa": "Ser", "end_pos": 636, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser636", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Thr699", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 699, "start_aa": "Thr", "end_pos": 699, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr699", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "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": 738, "start_aa": "Ser", "end_pos": 738, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser738", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Ser745", "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": 745, "start_aa": "Ser", "end_pos": 745, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser745", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Ser778", "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": 778, "start_aa": "Ser", "end_pos": 778, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser778", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Ser779", "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": 779, "start_aa": "Ser", "end_pos": 779, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser779", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Asn822", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G29015LH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TEASAKDSFIDSSSSSSNCTSGSSKTNSPSISPSMLSNAEHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 822, "start_aa": "Asn", "end_pos": 822, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn822", "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": "O70305-1", "start_pos": "852", "end_pos": "852", "site_lbl": "Thr852", "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": 852, "start_aa": "Thr", "end_pos": 852, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr852", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O70305", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70305" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "5", "chr_pos": "121949548", "evidence": [ { "id": "rs3388775038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775038" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Thr858", "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": 858, "start_aa": "Thr", "end_pos": 858, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr858", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70305" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Ser593", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ser611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "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": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Thr710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Ser741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Ser827", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Ser828", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Ser832", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "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": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Ser836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "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": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Ser838", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Ser860", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70305", "url": "https://www.uniprot.org/uniprotkb/O70305" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "1112", "end_pos": "1112", "site_lbl": "Ala1112", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "5", "chr_pos": "121948958", "evidence": [ { "id": "rs244878264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244878264" } ] } ] }, { "uniprot_canonical_ac": "O70305-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Arg237", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVS).", "chr_id": "5", "chr_pos": "121885505", "evidence": [ { "id": "rs3396128784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396128784" } ] } ] } ], "record_id": "O70305-1" }, { "uniprot_canonical_ac": "Q4QY64-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1826, "chemical_mass": 203909.0, "gene_names": "Atad5;Atad5;C130052G03Rik;FRAG1;Frag1;Gm17", "protein_name": "ATPase family AAA domain-containing protein 5", "disease": [ { "disease_id": "DOID:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "DNA clamp unloader activity", "id": "GO:0061860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061860", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "Elg1 RFC-like complex", "id": "GO:0031391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031391", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902230", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "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": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle phase transition", "id": "GO:1901990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901990", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:1902166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902166", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "nuclear DNA replication", "id": "GO:0033260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033260", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G2/M phase transition", "id": "GO:1902751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902751", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "positive regulation of DNA metabolic process", "id": "GO:0051054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051054", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" }, { "name": "regulation of cell cycle phase transition", "id": "GO:1901987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901987", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 328, "start_aa": "Thr", "end_pos": 328, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr328", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Thr72", "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": 72, "start_aa": "Thr", "end_pos": 72, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr72", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q4QY64", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Ser1104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4QY64", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ser591", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Ser603", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Ser727", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4QY64", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Ser801", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QY64", "url": "https://www.uniprot.org/uniprotkb/Q4QY64" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "1589", "end_pos": "1589", "site_lbl": "Arg1589", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "11", "chr_pos": "80023656", "evidence": [ { "id": "rs234616467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234616467" } ] } ] }, { "uniprot_canonical_ac": "Q4QY64-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Asn550", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "11", "chr_pos": "79986563", "evidence": [ { "id": "rs250148153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250148153" } ] } ] } ], "record_id": "Q4QY64-1" }, { "uniprot_canonical_ac": "Q80XK6-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2075, "chemical_mass": 231399.0, "gene_names": "Atg2b;2410024A21Rik;Atg2b;C030004M05Rik;C630028L02Rik;mKIAA4067", "protein_name": "Autophagy-related protein 2 homolog B", "disease": [], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "pexophagy", "id": "GO:0000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000425", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "phagophore", "id": "GO:0061908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061908", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" }, { "name": "lipid transfer activity", "id": "GO:0120013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120013", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1007", "end_pos": "1007", "site_lbl": "Ser1007", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Tyr1011", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1015", "end_pos": "1015", "site_lbl": "Ser1015", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Ser1017", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1021", "end_pos": "1021", "site_lbl": "Thr1021", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "1525", "end_pos": "1525", "site_lbl": "Ser1525", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "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": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "839", "end_pos": "839", "site_lbl": "Ser839", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "885", "end_pos": "885", "site_lbl": "Ser885", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ] } ] }, { "uniprot_canonical_ac": "Q80XK6-2", "start_pos": "898", "end_pos": "898", "site_lbl": "Ser898", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XK6", "url": "https://www.uniprot.org/uniprotkb/Q80XK6" } ] } ] } ], "record_id": "Q80XK6-2" }, { "uniprot_canonical_ac": "Q91YI4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 410, "chemical_mass": 46314.0, "gene_names": "Arrb2;Arr3;Arrb2", "protein_name": "Beta-arrestin-2", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "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: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: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": "https://www.alliancegenome.org/disease/DOID:684" } ], "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": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "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": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, dopaminergic", "id": "GO:0032226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032226", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell apoptotic process", "id": "GO:0034392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034392", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "desensitization of G protein-coupled receptor signaling pathway", "id": "GO:0002029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002029", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045953", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell differentiation", "id": "GO:2000727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000727", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell apoptotic process", "id": "GO:1904037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904037", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "postsynaptic signal transduction", "id": "GO:0098926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098926", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of opioid receptor signaling pathway", "id": "GO:2000475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000475", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of opioid receptor signaling pathway", "id": "GO:2000476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000476", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "alpha-1B adrenergic receptor binding", "id": "GO:0031692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031692", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "arrestin family protein binding", "id": "GO:1990763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990763", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "alpha-1A adrenergic receptor binding", "id": "GO:0031691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031691", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "angiotensin receptor binding", "id": "GO:0031701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031701", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "type 1 angiotensin receptor binding", "id": "GO:0031702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031702", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "D1 dopamine receptor binding", "id": "GO:0031748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031748", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "follicle-stimulating hormone receptor binding", "id": "GO:0031762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031762", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "type 2A serotonin receptor binding", "id": "GO:0031826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031826", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "platelet activating factor receptor binding", "id": "GO:0031859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031859", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" }, { "name": "protein kinase B binding", "id": "GO:0043422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043422", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YI4-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ] } ] }, { "uniprot_canonical_ac": "Q91YI4-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Thr383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" } ] } ] }, { "uniprot_canonical_ac": "Q91YI4-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Tyr48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q91YI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YI4" } ] } ] }, { "uniprot_canonical_ac": "Q91YI4-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Leu395", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization. Causes nuclear relocalization of MAPK10.", "evidence": [ { "database": "UniProtKB", "id": "Q91YI4", "url": "https://www.uniprot.org/uniprotkb/Q91YI4" }, { "database": "PubMed", "id": "12167659", "url": "https://glygen.org/publication/PubMed/12167659" } ] } ] } ], "record_id": "Q91YI4-1" }, { "uniprot_canonical_ac": "Q91W92-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 409, "chemical_mass": 43096.0, "gene_names": "Cdc42ep1;1810058K22Rik;Borg5;CEP1;Cdc42ep1;Cep1;MSE55", "protein_name": "Cdc42 effector protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" } ], "biological_process": [ { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Thr143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 143, "start_aa": "Thr", "end_pos": 143, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr143", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Asn323", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSPVGEGPQVPSNMTFDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 323, "start_aa": "Asn", "end_pos": 323, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn323", "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": "Q91W92-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] }, { "uniprot_canonical_ac": "Q91W92-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W92", "url": "https://www.uniprot.org/uniprotkb/Q91W92" } ] } ] } ], "record_id": "Q91W92-1" }, { "uniprot_canonical_ac": "Q6PAJ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1270, "chemical_mass": 143072.0, "gene_names": "Bcr;5133400C09Rik;Bcr;Kiaa3017;mKIAA3017", "protein_name": "Breakpoint cluster region protein", "disease": [ { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "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": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of macrophage migration", "id": "GO:1905522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905522", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "neutrophil degranulation", "id": "GO:0043312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043312", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of cellular extravasation", "id": "GO:0002692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002692", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of neutrophil degranulation", "id": "GO:0043314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043314", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of blood vessel remodeling", "id": "GO:0060313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060313", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "intracellular protein transmembrane transport", "id": "GO:0065002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065002", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "negative regulation of respiratory burst", "id": "GO:0060268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060268", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "macrophage migration", "id": "GO:1905517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905517", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "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": 149, "start_aa": "Thr", "end_pos": 149, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr149", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAJ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAJ1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6PAJ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "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": 150, "start_aa": "Ser", "end_pos": 150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser150", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAJ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAJ1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q6PAJ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PAJ1" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "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": 402, "start_aa": "Ser", "end_pos": 402, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser402", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6PAJ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAJ1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "1263", "end_pos": "1263", "site_lbl": "Ser1263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Tyr178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Tyr247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Ser487", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Tyr553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Thr640", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Tyr643", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Thr692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAJ1", "url": "https://www.uniprot.org/uniprotkb/Q6PAJ1" } ] } ] }, { "uniprot_canonical_ac": "Q6PAJ1-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Lys1196", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "10", "chr_pos": "75017428", "evidence": [ { "id": "rs3389049289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389049289" } ] } ] } ], "record_id": "Q6PAJ1-1" }, { "uniprot_canonical_ac": "P24270-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 527, "chemical_mass": 59795.0, "gene_names": "Cat;2210418N07;Cas-1;Cas1;Cat;Cs-1", "protein_name": "Catalase", "disease": [ { "disease_id": "DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.", "url": "https://disease-ontology.org/term/DOID:0002116", "evidence": [ { "id": "0002116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ], "weight": 0.0 }, { "disease_id": "DOID:0050853", "name": "chronic venous insufficiency", "description": "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.", "url": "https://disease-ontology.org/term/DOID:0050853", "evidence": [ { "id": "0050853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050853" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10300", "name": "Raynaud disease", "description": "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.", "url": "https://disease-ontology.org/term/DOID:10300", "evidence": [ { "id": "10300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10300" } ], "weight": 0.0 }, { "disease_id": "DOID:10316", "name": "pneumoconiosis", "description": "An interstitial lung disease that is caused by the inhalation of dust.", "url": "https://disease-ontology.org/term/DOID:10316", "evidence": [ { "id": "10316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10316" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "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:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "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:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "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:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "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: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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "aminoacylase activity", "id": "GO:0004046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004046", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "catalase activity", "id": "GO:0004096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004096", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on peroxide as acceptor", "id": "GO:0016684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016684", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "catalase complex", "id": "GO:0062151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062151", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" } ], "biological_process": [ { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "hemoglobin metabolic process", "id": "GO:0020027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020027", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "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": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to light intensity", "id": "GO:0009642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009642", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to ozone", "id": "GO:0010193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010193", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to inactivity", "id": "GO:0014854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014854", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to L-ascorbic acid", "id": "GO:0033591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033591", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to phenylpropanoid", "id": "GO:0080184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080184", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "UV protection", "id": "GO:0009650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009650", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "cellular detoxification of hydrogen peroxide", "id": "GO:0061692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061692", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" }, { "name": "response to amitrole", "id": "GO:0072722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072722", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P24270-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "P24270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ser417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P24270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "P24270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "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": "P24270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Thr511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ser517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "P24270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" } ] } ] }, { "uniprot_canonical_ac": "P24270-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Gln11", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Acatalasemia.", "evidence": [ { "database": "UniProtKB", "id": "P24270", "url": "https://www.uniprot.org/uniprotkb/P24270" }, { "database": "PubMed", "id": "2268310", "url": "https://glygen.org/publication/PubMed/2268310" } ] } ] } ], "record_id": "P24270-1" }, { "uniprot_canonical_ac": "Q61686-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 191, "chemical_mass": 22186.0, "gene_names": "Cbx5;2610029O15Rik;Cbx5;HP1;Hp1alpha;Hp1a", "protein_name": "Chromobox protein homolog 5", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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 } ], "biological_process": [ { "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": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "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": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "protein localization to heterochromatin", "id": "GO:0097355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097355", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone H3K9me2/3 reader activity", "id": "GO:0062072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062072", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone H1K26me1 reader activity", "id": "GO:0160267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160267", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone H1K26me2 reader activity", "id": "GO:0160268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160268", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "chromocenter", "id": "GO:0010369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010369", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61686-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Thr50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q61686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61686" }, { "database": "PubMed", "id": "24584199", "url": "https://glygen.org/publication/PubMed/24584199" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ] } ] }, { "uniprot_canonical_ac": "Q61686-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61686", "url": "https://www.uniprot.org/uniprotkb/Q61686" } ] } ] } ], "record_id": "Q61686-1" }, { "uniprot_canonical_ac": "Q9D920-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 195, "chemical_mass": 22120.0, "gene_names": "Borcs5;5830457J20Rik;Borcs5;Loh12cr1", "protein_name": "BLOC-1-related complex subunit 5", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "plus-end kinesin complex", "id": "GO:0005873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005873", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "BORC complex", "id": "GO:0099078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099078", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "regulation of endosome size", "id": "GO:0051036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051036", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "positive regulation of anterograde synaptic vesicle transport", "id": "GO:1903744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903744", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" }, { "name": "regulation of lysosome size", "id": "GO:0062196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062196", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D920-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9D920-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D920" } ] } ] }, { "uniprot_canonical_ac": "Q9D920-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Ser75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D920", "url": "https://www.uniprot.org/uniprotkb/Q9D920" } ] } ] } ], "record_id": "Q9D920-1" }, { "uniprot_canonical_ac": "P04919-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 929, "chemical_mass": 103136.0, "gene_names": "Slc4a1;Ae1;CD233;Empb3;Slc4a1;l11Jus51", "protein_name": "Band 3 anion transport protein", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "weight": 0.0 }, { "disease_id": "DOID:0110919", "name": "hereditary spherocytosis type 4", "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.", "url": "https://disease-ontology.org/term/DOID:0110919", "evidence": [ { "id": "0110919", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110919" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12971", "name": "hereditary spherocytosis", "description": "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.", "url": "https://disease-ontology.org/term/DOID:12971", "evidence": [ { "id": "12971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12971" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2373", "name": "hereditary elliptocytosis", "description": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.", "url": "https://disease-ontology.org/term/DOID:2373", "evidence": [ { "id": "2373", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2373" } ], "weight": 0.0 }, { "disease_id": "DOID:2862", "name": "glucosephosphate dehydrogenase deficiency", "description": "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).", "url": "https://disease-ontology.org/term/DOID:2862", "evidence": [ { "id": "2862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2862" } ], "weight": 0.0 }, { "disease_id": "DOID:589", "name": "congenital hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:589", "evidence": [ { "id": "589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:589" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process through fructose-6-phosphate", "id": "GO:1904539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904539", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "negative regulation of urine volume", "id": "GO:0035811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035811", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "plasma membrane phospholipid scrambling", "id": "GO:0017121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017121", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "negative regulation of oxidoreductase activity", "id": "GO:0051354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051354", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "response to carbon dioxide", "id": "GO:0010037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010037", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "pH elevation", "id": "GO:0045852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045852", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "hemoglobin binding", "id": "GO:0030492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030492", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" }, { "name": "ankyrin-1 complex", "id": "GO:0170014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170014", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04919-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Asn660", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSVPDGLKVSNSSAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 660, "start_aa": "Asn", "end_pos": 660, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn660", "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" } ] }, { "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": 660, "start_aa": "Asn", "end_pos": 660, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn660", "evidence": [ { "id": "P04919", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04919#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04919", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Tyr31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04919", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Tyr372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Thr374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04919", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Tyr56", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "922", "end_pos": "922", "site_lbl": "Tyr922", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04919", "url": "https://www.uniprot.org/uniprotkb/P04919" } ] } ] }, { "uniprot_canonical_ac": "P04919-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "11", "chr_pos": "102251004", "evidence": [ { "id": "rs3389206445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206445" } ] } ] } ], "record_id": "P04919-1" }, { "uniprot_canonical_ac": "Q60739-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 355, "chemical_mass": 39740.0, "gene_names": "Bag1;BAG-1;Bag1;Rap46", "protein_name": "BAG family molecular chaperone regulator 1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "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": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell apoptotic process", "id": "GO:0034393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034393", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell differentiation", "id": "GO:0014040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014040", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "negative regulation of motor neuron apoptotic process", "id": "GO:2000672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000672", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" }, { "name": "adenyl-nucleotide exchange factor activity", "id": "GO:0000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000774", "evidence": [ { "database": "UniProtKB", "id": "Q60739", "url": "https://www.uniprot.org/uniprotkb/Q60739" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q60739-1" }, { "uniprot_canonical_ac": "Q8BWP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 47384.0, "gene_names": "B4gat1;1500032M01Rik;B3gnt1;B3gnt6;B4gat1;BETA3GNT1;iGAT;iGNT", "protein_name": "Beta-1,4-glucuronyltransferase 1", "disease": [ { "disease_id": "DOID:0050560", "name": "Walker-Warburg syndrome", "description": "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.", "url": "https://disease-ontology.org/term/DOID:0050560", "evidence": [ { "id": "0050560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050560" } ], "weight": 0.0 }, { "disease_id": "DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.", "url": "https://disease-ontology.org/term/DOID:0050588", "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ], "weight": 0.0 }, { "disease_id": "DOID:0111238", "name": "congenital muscular dystrophy-dystroglycanopathy type A13", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.", "url": "https://disease-ontology.org/term/DOID:0111238", "evidence": [ { "id": "0111238", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111238" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" } ], "biological_process": [ { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" }, { "name": "protein O-linked glycosylation via mannose", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VAQPGINYALGTNTSYPNNLLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 204, "start_aa": "Asn", "end_pos": 204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn204", "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" } ] }, { "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": 204, "start_aa": "Asn", "end_pos": 204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn204", "evidence": [ { "id": "Q8BWP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PFYYGLCTPCHAPTNYSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 300, "start_aa": "Asn", "end_pos": 300, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn300", "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" } ] }, { "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": 300, "start_aa": "Asn", "end_pos": 300, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn300", "evidence": [ { "id": "Q8BWP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Pro308", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NLP->NLS); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089926", "evidence": [ { "id": "rs3389518726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389518726" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Val124", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089374", "evidence": [ { "id": "rs3389528976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389528976" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Gln13", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089042", "evidence": [ { "id": "rs3389510515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510515" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Pro147", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089443", "evidence": [ { "id": "rs3389532113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532113" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Met149", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089450", "evidence": [ { "id": "rs3389517599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517599" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ala165", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089498", "evidence": [ { "id": "rs3389532100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532100" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asn209", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089631", "evidence": [ { "id": "rs3389425394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425394" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089645", "evidence": [ { "id": "rs3408214824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408214824" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Leu236", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089711", "evidence": [ { "id": "rs3389518498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389518498" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Thr253", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089761", "evidence": [ { "id": "rs3389528886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389528886" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Leu255", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089767", "evidence": [ { "id": "rs3389484036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389484036" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "296", "end_pos": "296", "site_lbl": "His296", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089891", "evidence": [ { "id": "rs3412796881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412796881" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Asn367", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5090377", "evidence": [ { "id": "rs3389521756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521756" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Leu371", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5090389_5090390insAGCCTCCTTTTGGGGATGGAACTTCAATGCCTCCTTGAATCCCTTATGAACCAGAAAACCT", "evidence": [ { "id": "rs3406967459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406967459" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5090392", "evidence": [ { "id": "rs3389497160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389497160" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ala388", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5090440", "evidence": [ { "id": "rs3389526470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389526470" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Pro412", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5090513", "evidence": [ { "id": "rs228644962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228644962" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Phe46", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089140", "evidence": [ { "id": "rs3389511072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511072" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Tyr5", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089019", "evidence": [ { "id": "rs3389511067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511067" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "5089017", "evidence": [ { "id": "rs3389511723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511723" } ] } ] }, { "uniprot_canonical_ac": "Q8BWP8-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Met155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Mild muscular dystrophy phenotype of variable penetrance due to defects in axon guidance. Mislocalization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprotkb/Q8BWP8" }, { "database": "PubMed", "id": "23217742", "url": "https://glygen.org/publication/PubMed/23217742" } ] } ] } ], "record_id": "Q8BWP8-1" }, { "uniprot_canonical_ac": "Q9CWL2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1761, "chemical_mass": 191188.0, "gene_names": "Casz1;2410019P08Rik;Casz1;Cst;D4Ertd432e;Kiaa3026", "protein_name": "Zinc finger protein castor homolog 1", "disease": [ { "disease_id": "DOID:0060410", "name": "chromosome 1p36 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.", "url": "https://disease-ontology.org/term/DOID:0060410", "evidence": [ { "id": "0060410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060410" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of amacrine cell differentiation", "id": "GO:1902870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902870", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "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": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "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": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "retinal rod cell fate commitment", "id": "GO:0060223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060223", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "negative regulation of retinal cone cell fate commitment", "id": "GO:0060226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060226", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "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": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Thr103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 103, "start_aa": "Thr", "end_pos": 103, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr103", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "4", "chr_pos": "149013744", "evidence": [ { "id": "rs3388734696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734696" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "1663", "end_pos": "1663", "site_lbl": "Thr1663", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1663, "start_aa": "Thr", "end_pos": 1663, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1663", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "1758", "end_pos": "1758", "site_lbl": "Thr1758", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1758, "start_aa": "Thr", "end_pos": 1758, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1758", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Thr408", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 408, "start_aa": "Thr", "end_pos": 408, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr408", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "149017935", "evidence": [ { "id": "rs3543089062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543089062" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "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": 432, "start_aa": "Ser", "end_pos": 432, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser432", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q9CWL2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CWL2" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Ser719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CWL2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CWL2" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Ser720", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CWL2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CWL2" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "981", "end_pos": "981", "site_lbl": "Ser981", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWL2", "url": "https://www.uniprot.org/uniprotkb/Q9CWL2" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "1277", "end_pos": "1277", "site_lbl": "Phe1277", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGF->NGS).", "chr_id": "4", "chr_pos": "149031580", "evidence": [ { "id": "rs3388734668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734668" } ] } ] }, { "uniprot_canonical_ac": "Q9CWL2-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Gly795", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSC).", "chr_id": "4", "chr_pos": "149023479", "evidence": [ { "id": "rs5526907814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526907814" } ] } ] } ], "record_id": "Q9CWL2-1" }, { "uniprot_canonical_ac": "Q9D8S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D8S9", "url": "https://www.uniprot.org/uniprotkb/Q9D8S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 137, "chemical_mass": 14379.0, "gene_names": "Bola1;1810037G04Rik;Bola1", "protein_name": "BolA-like protein 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D8S9", "url": "https://www.uniprot.org/uniprotkb/Q9D8S9" } ], "pmid": "" }, { "name": "iron-sulfur cluster assembly complex", "id": "GO:1990229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990229", "evidence": [ { "database": "UniProtKB", "id": "Q9D8S9", "url": "https://www.uniprot.org/uniprotkb/Q9D8S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D8S9-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asn53", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70223PD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NESGGHAVPAGSETHFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 53, "start_aa": "Asn", "end_pos": 53, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "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": "Q9D8S9-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ser81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8S9", "url": "https://www.uniprot.org/uniprotkb/Q9D8S9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8S9" } ] } ] } ], "record_id": "Q9D8S9-1" }, { "uniprot_canonical_ac": "Q9QYP6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 405, "chemical_mass": 46091.0, "gene_names": "Azi2;AZ2;Az2;Azi2;Nap1;Tbkp2", "protein_name": "5-azacytidine-induced protein 2", "disease": [], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "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": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "pmid": "" }, { "name": "dendritic cell proliferation", "id": "GO:0044565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044565", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Ser331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Tyr236", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with TBK1 but not with IKBKE.", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" }, { "database": "PubMed", "id": "17568778", "url": "https://glygen.org/publication/PubMed/17568778" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Trp237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "No effect on interaction with TBK1 and IKBKE.", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" }, { "database": "PubMed", "id": "17568778", "url": "https://glygen.org/publication/PubMed/17568778" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Glu238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on interaction with TBK1 and IKBKE.", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" }, { "database": "PubMed", "id": "17568778", "url": "https://glygen.org/publication/PubMed/17568778" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Gln253", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes interaction with TBK1 and IKBKE.", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" }, { "database": "PubMed", "id": "17568778", "url": "https://glygen.org/publication/PubMed/17568778" } ] } ] }, { "uniprot_canonical_ac": "Q9QYP6-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Leu257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes interaction with TBK1 and IKBKE.", "evidence": [ { "database": "UniProtKB", "id": "Q9QYP6", "url": "https://www.uniprot.org/uniprotkb/Q9QYP6" }, { "database": "PubMed", "id": "17568778", "url": "https://glygen.org/publication/PubMed/17568778" } ] } ] } ], "record_id": "Q9QYP6-1" }, { "uniprot_canonical_ac": "O54784-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 448, "chemical_mass": 51422.0, "gene_names": "Dapk3;Dapk3;ZIPK;Zipk;dlk", "protein_name": "Death-associated protein kinase 3", "disease": [], "biological_process": [ { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "regulation of myosin II filament organization", "id": "GO:0043519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043519", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54784-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Thr244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 244, "start_aa": "Thr", "end_pos": 244, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr244", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O54784-1", "kinase_gene_name": "Dapk3", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "iPTMnet", "id": "O54784", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54784" }, { "database": "PubMed", "id": "16325270", "url": "https://glygen.org/publication/PubMed/16325270" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Lys108", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "10", "chr_pos": "81026034", "evidence": [ { "id": "rs3389104121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389104121" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ala294", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Nuclear colocalization.", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "PubMed", "id": "20854903", "url": "https://glygen.org/publication/PubMed/20854903" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Val422", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Decreased activity; when associated with A-429 and A-436.", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "PubMed", "id": "9488481", "url": "https://glygen.org/publication/PubMed/9488481" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Val429", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Decreased activity; when associated with A-422 and A-436.", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "PubMed", "id": "9488481", "url": "https://glygen.org/publication/PubMed/9488481" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Lys42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "PubMed", "id": "9488481", "url": "https://glygen.org/publication/PubMed/9488481" } ] } ] }, { "uniprot_canonical_ac": "O54784-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Leu436", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased activity; when associated with A-422 and A-429.", "evidence": [ { "database": "UniProtKB", "id": "O54784", "url": "https://www.uniprot.org/uniprotkb/O54784" }, { "database": "PubMed", "id": "9488481", "url": "https://glygen.org/publication/PubMed/9488481" } ] } ] } ], "record_id": "O54784-1" }, { "uniprot_canonical_ac": "Q8BPM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1077, "chemical_mass": 123370.0, "gene_names": "Daam1;Daam1", "protein_name": "Disheveled-associated activator of morphogenesis 1", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "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": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" } ], "biological_process": [ { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" }, { "name": "presynaptic actin cytoskeleton organization", "id": "GO:0099140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099140", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BPM0-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Asn325", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EHENSTLDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 325, "start_aa": "Asn", "end_pos": 325, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn325", "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": "Q8BPM0-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Asn887", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNMTELDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 887, "start_aa": "Asn", "end_pos": 887, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn887", "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": "Q8BPM0-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Ser1026", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ] } ] }, { "uniprot_canonical_ac": "Q8BPM0-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ser1029", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BPM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BPM0" } ] } ] }, { "uniprot_canonical_ac": "Q8BPM0-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM0", "url": "https://www.uniprot.org/uniprotkb/Q8BPM0" } ] } ] } ], "record_id": "Q8BPM0-1" }, { "uniprot_canonical_ac": "P61793-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 364, "chemical_mass": 41119.0, "gene_names": "Lpar1;Edg2;Gpcr26;Kdt2;Lpa1;Lpar1;Vzg1;lpA1;vzg-1", "protein_name": "Lysophosphatidic acid receptor 1", "disease": [ { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cilium assembly", "id": "GO:1902018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902018", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "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": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "bleb assembly", "id": "GO:0032060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032060", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell chemotaxis", "id": "GO:0071673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071673", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "optic nerve development", "id": "GO:0021554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021554", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "corpus callosum development", "id": "GO:0022038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022038", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cellular response to oxygen levels", "id": "GO:0071453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071453", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "cellular response to 1-oleoyl-sn-glycerol 3-phosphate", "id": "GO:1904566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904566", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor internalization", "id": "GO:0099149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099149", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "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": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "lysophosphatidic acid receptor activity", "id": "GO:0070915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070915", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" }, { "name": "lysophosphatidic acid binding", "id": "GO:0035727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035727", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61793-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asn27", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 27, "start_aa": "Asn", "end_pos": 27, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn27", "evidence": [ { "id": "P61793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P61793-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Thr338", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 338, "start_aa": "Thr", "end_pos": 338, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr338", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P61793-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SASSLNHTILAGVHSNDHSVV", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "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": "P61793-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asn35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "P61793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P61793-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" } ] } ] }, { "uniprot_canonical_ac": "P61793-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61793", "url": "https://www.uniprot.org/uniprotkb/P61793" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P61793", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61793" } ] } ] } ], "record_id": "P61793-1" }, { "uniprot_canonical_ac": "Q811U4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 741, "chemical_mass": 83726.0, "gene_names": "Mfn1;2310002F04Rik;6330416C07Rik;D3Ertd265e;HR2;Mfn1;mKIAA4032", "protein_name": "Mitofusin-1", "disease": [ { "disease_id": "DOID:0050539", "name": "Charcot-Marie-Tooth disease type 2", "description": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.", "url": "https://disease-ontology.org/term/DOID:0050539", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ], "weight": 0.0 }, { "disease_id": "DOID:0110155", "name": "Charcot-Marie-Tooth disease type 2A2A", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.", "url": "https://disease-ontology.org/term/DOID:0110155", "evidence": [ { "id": "0110155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110155" } ], "weight": 0.0 }, { "disease_id": "DOID:0111557", "name": "Charcot-Marie-Tooth disease type 2A2B", "description": "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.", "url": "https://disease-ontology.org/term/DOID:0111557", "evidence": [ { "id": "0111557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111557" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "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:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:13711", "name": "dental fluorosis", "description": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.", "url": "https://disease-ontology.org/term/DOID:13711", "evidence": [ { "id": "13711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13711" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "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 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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: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 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "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": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" }, { "name": "outer mitochondrial membrane protein complex", "id": "GO:0098799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098799", "evidence": [ { "database": "UniProtKB", "id": "Q811U4", "url": "https://www.uniprot.org/uniprotkb/Q811U4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q811U4-1" }, { "uniprot_canonical_ac": "Q80U63-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 757, "chemical_mass": 86188.0, "gene_names": "Mfn2;D630023P19Rik;Fzo;Kiaa0214;Marf;Mfn2", "protein_name": "Mitofusin-2", "disease": [ { "disease_id": "DOID:0050539", "name": "Charcot-Marie-Tooth disease type 2", "description": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.", "url": "https://disease-ontology.org/term/DOID:0050539", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ], "weight": 0.0 }, { "disease_id": "DOID:0080068", "name": "Charcot-Marie-Tooth disease type 6", "description": "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.", "url": "https://disease-ontology.org/term/DOID:0080068", "evidence": [ { "id": "0080068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080068" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0110155", "name": "Charcot-Marie-Tooth disease type 2A2A", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.", "url": "https://disease-ontology.org/term/DOID:0110155", "evidence": [ { "id": "0110155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110155" } ], "weight": 0.0 }, { "disease_id": "DOID:0111557", "name": "Charcot-Marie-Tooth disease type 2A2B", "description": "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.", "url": "https://disease-ontology.org/term/DOID:0111557", "evidence": [ { "id": "0111557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111557" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:14116", "name": "multiple symmetric lipomatosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14116", "evidence": [ { "id": "14116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14116" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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: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: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: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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of sarcomere organization", "id": "GO:0060299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060299", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of estradiol secretion", "id": "GO:2000866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000866", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of Ras protein signal transduction", "id": "GO:0046580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046580", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide biosynthetic process", "id": "GO:0010729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010729", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "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": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "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": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "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": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "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": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of progesterone secretion", "id": "GO:2000872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000872", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "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": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrial membrane organization", "id": "GO:0007006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007006", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell apoptotic process", "id": "GO:1905461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905461", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "proteoglycan binding", "id": "GO:0043394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043394", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80U63-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Thr111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" } ] } ] }, { "uniprot_canonical_ac": "Q80U63-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q80U63", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U63" }, { "database": "PubMed", "id": "29674596", "url": "https://glygen.org/publication/PubMed/29674596" } ] } ] }, { "uniprot_canonical_ac": "Q80U63-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprotkb/Q80U63" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80U63", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80U63" } ] } ] } ], "record_id": "Q80U63-1" }, { "uniprot_canonical_ac": "A2AWP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1280, "chemical_mass": 139987.0, "gene_names": "Arhgef10l;2810441C07Rik;Arhgef10l;Kiaa1626", "protein_name": "Rho guanine nucleotide exchange factor 10-like protein", "disease": [ { "disease_id": "DOID:0050933", "name": "ovarian serous carcinoma", "description": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.", "url": "https://disease-ontology.org/term/DOID:0050933", "evidence": [ { "id": "0050933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050933" } ], "weight": 0.0 }, { "disease_id": "DOID:6212", "name": "ovarian endometrial cancer", "description": "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:6212", "evidence": [ { "id": "6212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6212" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" }, { "name": "SREBP signaling pathway", "id": "GO:0032933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032933", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AWP8-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Thr252", "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": 252, "start_aa": "Thr", "end_pos": 252, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr252", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "A2AWP8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AWP8" } ] } ] }, { "uniprot_canonical_ac": "A2AWP8-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Tyr131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "A2AWP8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AWP8" } ] } ] }, { "uniprot_canonical_ac": "A2AWP8-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Tyr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "A2AWP8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AWP8" } ] } ] }, { "uniprot_canonical_ac": "A2AWP8-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ser279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ] } ] }, { "uniprot_canonical_ac": "A2AWP8-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AWP8", "url": "https://www.uniprot.org/uniprotkb/A2AWP8" } ] } ] } ], "record_id": "A2AWP8-1" }, { "uniprot_canonical_ac": "Q8K4I3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 771, "chemical_mass": 87051.0, "gene_names": "Arhgef6;1600028C08Rik;1700038J06Rik;4930592P22Rik;Arhgef6;alpha-PIX", "protein_name": "Rho guanine nucleotide exchange factor 6", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 550, "start_aa": "Thr", "end_pos": 550, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr550", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "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": 558, "start_aa": "Thr", "end_pos": 558, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr558", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8K4I3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K4I3" }, { "id": "Q8K4I3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Ser487", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" }, { "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": "Q8K4I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ser639", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K4I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4I3" } ] } ] }, { "uniprot_canonical_ac": "Q8K4I3-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Ser679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K4I3", "url": "https://www.uniprot.org/uniprotkb/Q8K4I3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8K4I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K4I3" } ] } ] } ], "record_id": "Q8K4I3-1" }, { "uniprot_canonical_ac": "Q9R0K7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1198, "chemical_mass": 132588.0, "gene_names": "Atp2b2;Atp2b2;D6Abb2e;Gena300;PMCA2;Pmca2;Tmy;dfw;jog;wms;wri", "protein_name": "Plasma membrane calcium-transporting ATPase 2", "disease": [ { "disease_id": "DOID:0050429", "name": "Hailey-Hailey disease", "description": "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.", "url": "https://disease-ontology.org/term/DOID:0050429", "evidence": [ { "id": "0050429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050429" } ], "weight": 0.0 }, { "disease_id": "DOID:0070603", "name": "autosomal dominant nonsyndromic deafness 82", "description": "An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1.", "url": "https://disease-ontology.org/term/DOID:0070603", "evidence": [ { "id": "0070603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070603" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "glutamate receptor binding", "id": "GO:0035254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035254", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "P-type calcium transporter activity", "id": "GO:0005388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005388", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:1905059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905059", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "calcium-dependent ATPase activity", "id": "GO:0030899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030899", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" } ], "biological_process": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "serotonin metabolic process", "id": "GO:0042428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042428", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell differentiation", "id": "GO:0021702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021702", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cerebellar granule cell differentiation", "id": "GO:0021707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021707", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell layer morphogenesis", "id": "GO:0021692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021692", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "otolith mineralization", "id": "GO:0045299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045299", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "1154", "end_pos": "1154", "site_lbl": "Asn1154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G47702MW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IEDSQPHIPLIDDTDLEEDAALKQNSSPPSSLNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1154, "start_aa": "Asn", "end_pos": 1154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1154", "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": "Q9R0K7-1", "start_pos": "1179", "end_pos": "1179", "site_lbl": "Ser1179", "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": 1179, "start_aa": "Ser", "end_pos": 1179, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1179", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9R0K7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Asn16", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G17961CZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NESSHGGEFGCTMEELR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 16, "start_aa": "Asn", "end_pos": 16, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn16", "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": "Q9R0K7-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Asn447", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90734RJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HLDACETMGNATAICSDKTGTLTTNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 447, "start_aa": "Asn", "end_pos": 447, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn447", "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": "Q9R0K7-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Asn812", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36003IU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EASDIILTDDNFSSIVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 812, "start_aa": "Asn", "end_pos": 812, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn812", "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": "Q9R0K7-1", "start_pos": "1094", "end_pos": "1094", "site_lbl": "Thr1094", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Ser1133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "1143", "end_pos": "1143", "site_lbl": "Thr1143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Ser1156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "1166", "end_pos": "1166", "site_lbl": "Ser1166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0K7" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Asn691", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIT).", "chr_id": "6", "chr_pos": "113743058", "evidence": [ { "id": "rs3388850914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850914" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Lys344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Impairs transporter activity; when associated with T-347 and L-351.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Lys347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Impairs transporter activity; when associated with T-344 and L-351.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Gln351", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Impairs transporter activity; when associated with T-344 and T-347.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Glu412", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Impairs transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Gln837", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Impairs transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "841", "end_pos": "841", "site_lbl": "Asn841", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Impairs transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Asp873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "Impairs transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] }, { "uniprot_canonical_ac": "Q9R0K7-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Ser877", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Impairs transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0K7", "url": "https://www.uniprot.org/uniprotkb/Q9R0K7" }, { "database": "PubMed", "id": "40836084", "url": "https://glygen.org/publication/PubMed/40836084" } ] } ] } ], "record_id": "Q9R0K7-1" }, { "uniprot_canonical_ac": "Q8C8R3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3898, "chemical_mass": 426261.0, "gene_names": "Ank2;100043364;Ank-2;Ank2;AnkB;Gm4392", "protein_name": "Ankyrin-2", "disease": [ { "disease_id": "DOID:0050824", "name": "sinoatrial node disease", "description": "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.", "url": "https://disease-ontology.org/term/DOID:0050824", "evidence": [ { "id": "0050824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050824" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0111700", "name": "ankyrin-B-related cardiac arrhythmia", "description": "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.", "url": "https://disease-ontology.org/term/DOID:0111700", "evidence": [ { "id": "0111700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111700" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2843", "name": "long QT syndrome", "description": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).", "url": "https://disease-ontology.org/term/DOID:2843", "evidence": [ { "id": "2843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2843" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "phosphorylation-dependent protein binding", "id": "GO:0140031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140031", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "potassium channel activator activity", "id": "GO:0099104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099104", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "channel activator activity", "id": "GO:0099103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099103", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "paranodal junction", "id": "GO:0033010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033010", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane repolarization", "id": "GO:0060307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060307", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by calcium ion signaling", "id": "GO:0010882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010882", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "T-tubule organization", "id": "GO:0033292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033292", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein localization to M-band", "id": "GO:0036309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036309", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein localization to T-tubule", "id": "GO:0036371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036371", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell action potential", "id": "GO:0086005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086005", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "atrial cardiac muscle cell action potential", "id": "GO:0086014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086014", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "SA node cell action potential", "id": "GO:0086015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086015", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "atrial cardiac muscle cell to AV node cell communication", "id": "GO:0086066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086066", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "SA node cell to atrial cardiac muscle cell communication", "id": "GO:0086070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086070", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of SA node cell action potential", "id": "GO:0098907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098907", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell action potential", "id": "GO:0098910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098910", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "positive regulation of potassium ion import across plasma membrane", "id": "GO:1903288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903288", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of AV node cell action potential", "id": "GO:0098904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098904", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell membrane potential", "id": "GO:0086036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086036", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "paranodal junction assembly", "id": "GO:0030913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030913", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "inorganic ion homeostasis", "id": "GO:0098771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098771", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1337", "end_pos": "1337", "site_lbl": "Ser1337", "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": 1337, "start_aa": "Ser", "end_pos": 1337, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1337", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1632", "end_pos": "1632", "site_lbl": "Ser1632", "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": 1632, "start_aa": "Ser", "end_pos": 1632, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1632", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Asn17", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MNEDAAQKSDSGEKFNGSSQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 17, "start_aa": "Asn", "end_pos": 17, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn17", "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": "Q8C8R3-1", "start_pos": "2024", "end_pos": "2024", "site_lbl": "Ser2024", "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": 2024, "start_aa": "Ser", "end_pos": 2024, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2024", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2292", "end_pos": "2292", "site_lbl": "Ser2292", "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": 2292, "start_aa": "Ser", "end_pos": 2292, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2292", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2903", "end_pos": "2903", "site_lbl": "Thr2903", "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": 2903, "start_aa": "Thr", "end_pos": 2903, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2903", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2905", "end_pos": "2905", "site_lbl": "Thr2905", "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": 2905, "start_aa": "Thr", "end_pos": 2905, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2905", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2931", "end_pos": "2931", "site_lbl": "Thr2931", "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": 2931, "start_aa": "Thr", "end_pos": 2931, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2931", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2932", "end_pos": "2932", "site_lbl": "Asn2932", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G44050CO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SSPEDVVVTNSSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "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" } ] }, { "glytoucan_ac": "G59924QI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SSPEDVVVTNSSNR", "relation": "attached", "comment": "reported site N2873 is on non-canonical isoform S4R2R5-1 which maps to canonical isoform site Q8C8R3-1:2932", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "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": "Q8C8R3-1", "start_pos": "2975", "end_pos": "2975", "site_lbl": "Thr2975", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2975, "start_aa": "Thr", "end_pos": 2975, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2975", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3184", "end_pos": "3184", "site_lbl": "Thr3184", "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": 3184, "start_aa": "Thr", "end_pos": 3184, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3184", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3185", "end_pos": "3185", "site_lbl": "Thr3185", "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": 3185, "start_aa": "Thr", "end_pos": 3185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3185", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asn32", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PKKSDSNASFLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "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": "Q8C8R3-1", "start_pos": "3310", "end_pos": "3310", "site_lbl": "Thr3310", "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": 3310, "start_aa": "Thr", "end_pos": 3310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3310", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3682", "end_pos": "3682", "site_lbl": "Thr3682", "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": 3682, "start_aa": "Thr", "end_pos": 3682, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3682", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3759", "end_pos": "3759", "site_lbl": "Thr3759", "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": 3759, "start_aa": "Thr", "end_pos": 3759, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3759", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C8R3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C8R3" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Thr817", "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": 817, "start_aa": "Thr", "end_pos": 817, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr817", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8C8R3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C8R3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1349", "end_pos": "1349", "site_lbl": "Tyr1349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1426", "end_pos": "1426", "site_lbl": "Ser1426", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1428", "end_pos": "1428", "site_lbl": "Ser1428", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1440", "end_pos": "1440", "site_lbl": "Ser1440", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Ser1467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1562", "end_pos": "1562", "site_lbl": "Ser1562", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Ser1699", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1700", "end_pos": "1700", "site_lbl": "Ser1700", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1703", "end_pos": "1703", "site_lbl": "Ser1703", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Ser1816", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1819", "end_pos": "1819", "site_lbl": "Ser1819", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1889", "end_pos": "1889", "site_lbl": "Ser1889", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2090", "end_pos": "2090", "site_lbl": "Ser2090", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2202", "end_pos": "2202", "site_lbl": "Thr2202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2206", "end_pos": "2206", "site_lbl": "Ser2206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2232", "end_pos": "2232", "site_lbl": "Thr2232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2238", "end_pos": "2238", "site_lbl": "Ser2238", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2333", "end_pos": "2333", "site_lbl": "Thr2333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2364", "end_pos": "2364", "site_lbl": "Ser2364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2399", "end_pos": "2399", "site_lbl": "Ser2399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2413", "end_pos": "2413", "site_lbl": "Ser2413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2475", "end_pos": "2475", "site_lbl": "Ser2475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2480", "end_pos": "2480", "site_lbl": "Ser2480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2542", "end_pos": "2542", "site_lbl": "Thr2542", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2639", "end_pos": "2639", "site_lbl": "Ser2639", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2661", "end_pos": "2661", "site_lbl": "Ser2661", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2741", "end_pos": "2741", "site_lbl": "Ser2741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2755", "end_pos": "2755", "site_lbl": "Ser2755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "2913", "end_pos": "2913", "site_lbl": "Ser2913", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3032", "end_pos": "3032", "site_lbl": "Ser3032", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3035", "end_pos": "3035", "site_lbl": "Thr3035", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3226", "end_pos": "3226", "site_lbl": "Ser3226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3229", "end_pos": "3229", "site_lbl": "Ser3229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3230", "end_pos": "3230", "site_lbl": "Ser3230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3343", "end_pos": "3343", "site_lbl": "Ser3343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3362", "end_pos": "3362", "site_lbl": "Ser3362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3427", "end_pos": "3427", "site_lbl": "Ser3427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3686", "end_pos": "3686", "site_lbl": "Ser3686", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3692", "end_pos": "3692", "site_lbl": "Ser3692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3718", "end_pos": "3718", "site_lbl": "Thr3718", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3739", "end_pos": "3739", "site_lbl": "Thr3739", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3745", "end_pos": "3745", "site_lbl": "Thr3745", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3756", "end_pos": "3756", "site_lbl": "Thr3756", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3764", "end_pos": "3764", "site_lbl": "Ser3764", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Tyr378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3850", "end_pos": "3850", "site_lbl": "Ser3850", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Tyr531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Ser846", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Thr853", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Ser874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C8R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C8R3" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3075", "end_pos": "3075", "site_lbl": "Asp3075", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "3", "chr_pos": "126736399", "evidence": [ { "id": "rs30540733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30540733" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3195", "end_pos": "3195", "site_lbl": "Lys3195", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "3", "chr_pos": "126736037", "evidence": [ { "id": "rs233403519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233403519" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Tyr365", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "3", "chr_pos": "126825860", "evidence": [ { "id": "rs3388660914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388660914" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "1194", "end_pos": "1194", "site_lbl": "Arg1194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of binding to phosphatidylinositol 3-phosphate (PI3P) lipids and loss of localization to PI3P-positive organelles. Expression of mutant protein does not rescue ITGB1 recycling deficit of ANK2 null mutant fibroblasts.", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "27718357", "url": "https://glygen.org/publication/PubMed/27718357" } ] } ] }, { "uniprot_canonical_ac": "Q8C8R3-1", "start_pos": "3575", "end_pos": "3575", "site_lbl": "Glu3575", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Significantly weaker interaction with RABGAP1L.", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "27718357", "url": "https://glygen.org/publication/PubMed/27718357" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of interaction with RABGAP1L. Localizes on motile vesicles, but does not cotransport with RABGAP1L. Loss of polarized transport of PI3P-positive organelles to the leading edge of the migrating fibroblasts. Expression of mutant protein does not rescue ITGB1 recycling deficit of ANK2 null mutant fibroblasts nor the impaired haptotactic response of the fibroblasts.", "evidence": [ { "database": "UniProtKB", "id": "Q8C8R3", "url": "https://www.uniprot.org/uniprotkb/Q8C8R3" }, { "database": "PubMed", "id": "27718357", "url": "https://glygen.org/publication/PubMed/27718357" } ] } ] } ], "record_id": "Q8C8R3-1" }, { "uniprot_canonical_ac": "Q9Z206-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 595, "chemical_mass": 67734.0, "gene_names": "Net1;Arhgef8;Net1a;Net1;mNET1", "protein_name": "Neuroepithelial cell-transforming gene 1 protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9Z206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z206" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Leu321", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Inhibits transformation by N-terminal truncated form.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" }, { "database": "PubMed", "id": "9670022", "url": "https://glygen.org/publication/PubMed/9670022" } ] } ] }, { "uniprot_canonical_ac": "Q9Z206-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Trp492", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Inhibits transformation by N-terminal truncated form.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z206", "url": "https://www.uniprot.org/uniprotkb/Q9Z206" }, { "database": "PubMed", "id": "9670022", "url": "https://glygen.org/publication/PubMed/9670022" } ] } ] } ], "record_id": "Q9Z206-1" }, { "uniprot_canonical_ac": "Q9DBR4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 760, "chemical_mass": 83201.0, "gene_names": "Apbb2;2310007D03Rik;Apbb2;FE65L1;Fe65l1;Fe65l;Rirl1;TR2L;Zfra", "protein_name": "Amyloid beta precursor protein binding family B member 2", "disease": [ { "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: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 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "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": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "maintenance of lens transparency", "id": "GO:0036438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036438", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "negative regulation of cell cycle phase transition", "id": "GO:1901988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901988", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Thr343", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 343, "start_aa": "Thr", "end_pos": 343, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr343", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "66557432", "evidence": [ { "id": "rs3388767410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767410" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR4", "url": "https://www.uniprot.org/uniprotkb/Q9DBR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBR4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR4-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Asp406", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSC->NSC).", "chr_id": "5", "chr_pos": "66549005", "evidence": [ { "id": "rs3388765107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388765107" } ] } ] } ], "record_id": "Q9DBR4-1" }, { "uniprot_canonical_ac": "Q9CQW7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 192, "chemical_mass": 22715.0, "gene_names": "Coa8;1700081D05Rik;2810002N01Rik;Apop-1;Apop1;Apopt1;Coa8", "protein_name": "Cytochrome c oxidase assembly factor 8", "disease": [ { "disease_id": "DOID:0070502", "name": "mitochondrial complex IV deficiency nuclear type 17", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.", "url": "https://disease-ontology.org/term/DOID:0070502", "evidence": [ { "id": "0070502", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070502" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "matrix side of mitochondrial inner membrane", "id": "GO:0099617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099617", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "positive regulation of cytochrome-c oxidase activity", "id": "GO:1904960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904960", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW7", "url": "https://www.uniprot.org/uniprotkb/Q9CQW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQW7-1" }, { "uniprot_canonical_ac": "Q9R1C7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 953, "chemical_mass": 108481.0, "gene_names": "Prpf40a;Fbp11;Fnbp3", "protein_name": "Pre-mRNA-processing factor 40 homolog A", "disease": [], "cellular_component": [ { "name": "U1 snRNP", "id": "GO:0005685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005685", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" }, { "name": "mRNA cis splicing, via spliceosome", "id": "GO:0045292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045292", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1C7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Thr369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Ser719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Ser783", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Ser879", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Ser881", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Ser884", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Thr928", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1C7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Ser929", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R1C7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Ser931", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9R1C7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C7" } ] } ] }, { "uniprot_canonical_ac": "Q9R1C7-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Ser934", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R1C7", "url": "https://www.uniprot.org/uniprotkb/Q9R1C7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9R1C7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R1C7" } ] } ] } ], "record_id": "Q9R1C7-1" }, { "uniprot_canonical_ac": "Q8VBT9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 550, "chemical_mass": 59796.0, "gene_names": "Aspscr1;1190006K01Rik;ASPCR1;ASPC;ASPL;ASPS;Aspscr1;RCC17;TUG;Tug", "protein_name": "Tether containing UBX domain for GLUT4", "disease": [ { "disease_id": "DOID:4239", "name": "alveolar soft part sarcoma", "description": "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.", "url": "https://disease-ontology.org/term/DOID:4239", "evidence": [ { "id": "4239", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4239" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "regulation of D-glucose import", "id": "GO:0046324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046324", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" }, { "name": "positive regulation of protein modification process", "id": "GO:0031401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031401", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VBT9-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95177YH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PLTSPSANSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "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": "Q8VBT9-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VBT9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VBT9" } ] } ] }, { "uniprot_canonical_ac": "Q8VBT9-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT9", "url": "https://www.uniprot.org/uniprotkb/Q8VBT9" } ] } ] } ], "record_id": "Q8VBT9-1" }, { "uniprot_canonical_ac": "Q91YI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 51739.0, "gene_names": "Asl;2510006M18Rik;ASAL;Asl", "protein_name": "Argininosuccinate lyase", "disease": [ { "disease_id": "DOID:14755", "name": "argininosuccinic aciduria", "description": "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.", "url": "https://disease-ontology.org/term/DOID:14755", "evidence": [ { "id": "14755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14755" } ], "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:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "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 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "argininosuccinate metabolic process", "id": "GO:0000053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000053", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "L-arginine biosynthetic process", "id": "GO:0006526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006526", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "ammonia assimilation cycle", "id": "GO:0019676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019676", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "L-arginine biosynthetic process via ornithine", "id": "GO:0042450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042450", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" }, { "name": "argininosuccinate lyase activity", "id": "GO:0004056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004056", "evidence": [ { "database": "UniProtKB", "id": "Q91YI0", "url": "https://www.uniprot.org/uniprotkb/Q91YI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YI0-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FNSSISYDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "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": "Q91YI0-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ser417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q91YI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YI0" }, { "database": "PubMed", "id": "36270249", "url": "https://glygen.org/publication/PubMed/36270249" } ] } ] } ], "record_id": "Q91YI0-1" }, { "uniprot_canonical_ac": "Q9DCB4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 807, "chemical_mass": 88567.0, "gene_names": "Arpp21;0710001E13Rik;ARPP-21;Arpp21;D9Bwg1012e;Pnpla2;R3hdm3;Rcs;Tarpp", "protein_name": "cAMP-regulated phosphoprotein 21", "disease": [], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Asn158", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNSRDRMILLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "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": "Q9DCB4-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Asn255", "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": "RDNSSIDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 255, "start_aa": "Asn", "end_pos": 255, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn255", "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": "Q9DCB4-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Thr492", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 492, "start_aa": "Thr", "end_pos": 492, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr492", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Thr764", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 764, "start_aa": "Thr", "end_pos": 764, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr764", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Ser133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "iPTMnet", "id": "Q9DCB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCB4" }, { "database": "PubMed", "id": "10854908", "url": "https://glygen.org/publication/PubMed/10854908" }, { "database": "PubMed", "id": "15499021", "url": "https://glygen.org/publication/PubMed/15499021" } ] } ] }, { "uniprot_canonical_ac": "Q9DCB4-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Arg650", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes methylation, no effect on subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "Q9DCB4", "url": "https://www.uniprot.org/uniprotkb/Q9DCB4" }, { "database": "PubMed", "id": "15096520", "url": "https://glygen.org/publication/PubMed/15096520" } ] } ] } ], "record_id": "Q9DCB4-1" }, { "uniprot_canonical_ac": "P35585-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 423, "chemical_mass": 48543.0, "gene_names": "Ap1m1;AP47;Adtm1A;Ap1m1;Cltnm;mu1A", "protein_name": "AP-1 complex subunit mu-1", "disease": [], "biological_process": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "AP-1 adaptor complex", "id": "GO:0030121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030121", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" }, { "name": "clathrin adaptor complex", "id": "GO:0030131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" } ], "molecular_function": [ { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35585-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Thr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" }, { "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": "P35585", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35585" } ] } ] }, { "uniprot_canonical_ac": "P35585-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Thr154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" }, { "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": "P35585", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35585" } ] } ] }, { "uniprot_canonical_ac": "P35585-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35585", "url": "https://www.uniprot.org/uniprotkb/P35585" } ] } ] } ], "record_id": "P35585-1" }, { "uniprot_canonical_ac": "Q61548-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 901, "chemical_mass": 91851.0, "gene_names": "Snap91;91kDa;AP180;F1-20;Snap91;mKIAA0656", "protein_name": "Clathrin coat assembly protein AP180", "disease": [ { "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: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 } ], "biological_process": [ { "name": "positive regulation of clathrin coat assembly", "id": "GO:1905445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905445", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "regulation of protein transport", "id": "GO:0051223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051223", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "regulation of terminal button organization", "id": "GO:2000331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000331", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle clustering", "id": "GO:2000809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000809", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "1-phosphatidylinositol binding", "id": "GO:0005545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005545", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "inositol hexakisphosphate binding", "id": "GO:0000822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000822", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "phospholipase D inhibitor activity", "id": "GO:0060961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060961", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "phospholipase C inhibitor activity", "id": "GO:0160186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160186", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic endocytic zone membrane", "id": "GO:0098894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098894", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61548-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45816RQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NTLFNLSNFLDKSGSHGYDMSTFIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "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": "Q61548-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ser303", "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": 303, "start_aa": "Ser", "end_pos": 303, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser303", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ser305", "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": 305, "start_aa": "Ser", "end_pos": 305, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser305", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "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": 306, "start_aa": "Ser", "end_pos": 306, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser306", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "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": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Thr310", "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": 310, "start_aa": "Thr", "end_pos": 310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr310", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 310, "start_aa": "Thr", "end_pos": 310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr310", "evidence": [ { "id": "Q61548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61548#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Thr312", "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": 312, "start_aa": "Thr", "end_pos": 312, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr312", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Thr317", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 317, "start_aa": "Thr", "end_pos": 317, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr317", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61548", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Thr333", "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": 333, "start_aa": "Thr", "end_pos": 333, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr333", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Thr459", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 459, "start_aa": "Thr", "end_pos": 459, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr459", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Thr507", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 507, "start_aa": "Thr", "end_pos": 507, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr507", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "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": 600, "start_aa": "Ser", "end_pos": 600, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser600", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Thr608", "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": 608, "start_aa": "Thr", "end_pos": 608, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr608", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Ser613", "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": 613, "start_aa": "Ser", "end_pos": 613, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser613", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ser621", "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": 621, "start_aa": "Ser", "end_pos": 621, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser621", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Ser624", "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": 624, "start_aa": "Ser", "end_pos": 624, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser624", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Thr625", "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": 625, "start_aa": "Thr", "end_pos": 625, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr625", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q61548", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61548" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61548", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61548" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "9", "chr_pos": "86673588", "evidence": [ { "id": "rs3389064354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389064354" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Thr684", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 684, "start_aa": "Thr", "end_pos": 684, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr684", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "9", "chr_pos": "86665445", "evidence": [ { "id": "rs3389061955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061955" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Thr815", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 815, "start_aa": "Thr", "end_pos": 815, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr815", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Thr877", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 877, "start_aa": "Thr", "end_pos": 877, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr877", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61548", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ser594", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Ser627", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Ser761", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61548", "url": "https://www.uniprot.org/uniprotkb/Q61548" } ] } ] }, { "uniprot_canonical_ac": "Q61548-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Lys304", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "9", "chr_pos": "86691574", "evidence": [ { "id": "rs3389061925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061925" } ] } ] } ], "record_id": "Q61548-1" }, { "uniprot_canonical_ac": "Q3U0L2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U0L2", "url": "https://www.uniprot.org/uniprotkb/Q3U0L2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 486, "chemical_mass": 53203.0, "gene_names": "Ankrd33b;0610012A05Rik;3021401C12Rik;5730557B15Rik;Ankrd33b", "protein_name": "Ankyrin repeat domain-containing protein 33B", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q3U0L2", "url": "https://www.uniprot.org/uniprotkb/Q3U0L2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U0L2-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 23, "start_aa": "Thr", "end_pos": 23, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr23", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U0L2-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ser397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0L2", "url": "https://www.uniprot.org/uniprotkb/Q3U0L2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U0L2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U0L2" } ] } ] } ], "record_id": "Q3U0L2-1" }, { "uniprot_canonical_ac": "Q3UHI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 833, "chemical_mass": 92932.0, "gene_names": "Ccser2;1700012P13Rik;2900054P12Rik;Ccser2;Fam190b;Gcap14;Kiaa1128", "protein_name": "Serine-rich coiled-coil domain-containing protein 2", "disease": [], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" } ], "pmid": "" } ], "cellular_component": [ { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHI0-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" } ] } ] }, { "uniprot_canonical_ac": "Q3UHI0-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHI0", "url": "https://www.uniprot.org/uniprotkb/Q3UHI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHI0" } ] } ] } ], "record_id": "Q3UHI0-1" }, { "uniprot_canonical_ac": "Q8BGK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 353, "chemical_mass": 39885.0, "gene_names": "Adprhl1;Adprhl1;Arh2;D330008N11Rik;Gm34595", "protein_name": "Inactive ADP-ribosyltransferase ARH2", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" }, { "name": "ADP-ribosylarginine hydrolase activity", "id": "GO:0003875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003875", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" }, { "name": "hydrolase activity, hydrolyzing N-glycosyl compounds", "id": "GO:0016799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016799", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" } ], "cellular_component": [ { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" } ], "biological_process": [ { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" }, { "name": "protein de-ADP-ribosylation", "id": "GO:0051725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051725", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" }, { "name": "cardiac chamber ballooning", "id": "GO:0003242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003242", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGK2-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGK2", "url": "https://www.uniprot.org/uniprotkb/Q8BGK2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGK2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGK2" } ] } ] } ], "record_id": "Q8BGK2-1" }, { "uniprot_canonical_ac": "Q91ZE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 185, "chemical_mass": 20682.0, "gene_names": "Bmf;Bmf", "protein_name": "Bcl-2-modifying factor", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "anoikis", "id": "GO:0043276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043276", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZE9-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q91ZE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91ZE9" }, { "database": "PubMed", "id": "19841067", "url": "https://glygen.org/publication/PubMed/19841067" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE9-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Leu138", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decrease in the interaction with BCL2 and BCL2L2.", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE9-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Asp67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of interaction with DLC2.", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" }, { "database": "PubMed", "id": "11546872", "url": "https://glygen.org/publication/PubMed/11546872" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE9-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Lys68", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of interaction with DLC2.", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" }, { "database": "PubMed", "id": "11546872", "url": "https://glygen.org/publication/PubMed/11546872" } ] } ] }, { "uniprot_canonical_ac": "Q91ZE9-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ala69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Loss of interaction with DLC2.", "evidence": [ { "database": "UniProtKB", "id": "Q91ZE9", "url": "https://www.uniprot.org/uniprotkb/Q91ZE9" }, { "database": "PubMed", "id": "11546872", "url": "https://glygen.org/publication/PubMed/11546872" } ] } ] } ], "record_id": "Q91ZE9-1" }, { "uniprot_canonical_ac": "O55017-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2327, "chemical_mass": 261481.0, "gene_names": "Cacna1b;BIII;Cach5;Cacna1b;Cacnl1a5;Cav2.2;Cchn1a;alpha(1B)", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha-1B", "disease": [ { "disease_id": "DOID:0050214", "name": "Lambert-Eaton myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.", "url": "https://disease-ontology.org/term/DOID:0050214", "evidence": [ { "id": "0050214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050214" } ], "weight": 0.0 }, { "disease_id": "DOID:0050951", "name": "hereditary ataxia", "description": "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.", "url": "https://disease-ontology.org/term/DOID:0050951", "evidence": [ { "id": "0050951", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050951" } ], "weight": 0.0 }, { "disease_id": "DOID:0111181", "name": "familial hemiplegic migraine 1", "description": "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.", "url": "https://disease-ontology.org/term/DOID:0111181", "evidence": [ { "id": "0111181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111181" } ], "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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels", "id": "GO:0099626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099626", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "high voltage-gated calcium channel activity", "id": "GO:0008331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008331", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "voltage-gated monoatomic cation channel activity", "id": "GO:0022843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022843", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" } ], "biological_process": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "response to amyloid-beta", "id": "GO:1904645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "response to phorbol 13-acetate 12-myristate", "id": "GO:1904627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904627", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter secretion", "id": "GO:0001956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001956", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "positive regulation of calcium ion-dependent exocytosis of neurotransmitter", "id": "GO:1903235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903235", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "regulation of calcium-dependent activation of synaptic vesicle fusion", "id": "GO:0150037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150037", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "regulation of transport", "id": "GO:0051049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051049", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" }, { "name": "system process", "id": "GO:0003008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003008", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O55017-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Thr1024", "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": 1024, "start_aa": "Thr", "end_pos": 1024, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1024", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O55017", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O55017" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O55017", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Thr1080", "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": 1080, "start_aa": "Thr", "end_pos": 1080, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1080", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O55017", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O55017" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1085", "end_pos": "1085", "site_lbl": "Ser1085", "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": 1085, "start_aa": "Ser", "end_pos": 1085, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1085", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O55017", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O55017" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1554", "end_pos": "1554", "site_lbl": "Asn1554", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1554, "start_aa": "Asn", "end_pos": 1554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1554", "evidence": [ { "id": "O55017", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55017#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "2", "chr_pos": "24529210", "evidence": [ { "id": "rs3388533680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388533680" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1666", "end_pos": "1666", "site_lbl": "Asn1666", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1666, "start_aa": "Asn", "end_pos": 1666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1666", "evidence": [ { "id": "O55017", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55017#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2005", "end_pos": "2005", "site_lbl": "Asn2005", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77277QT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LAAETQPAPNASPMKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2005, "start_aa": "Asn", "end_pos": 2005, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2005", "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": "O55017-1", "start_pos": "2169", "end_pos": "2169", "site_lbl": "Thr2169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2169, "start_aa": "Thr", "end_pos": 2169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2169", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asn256", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "O55017", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55017#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1058", "end_pos": "1058", "site_lbl": "Ser1058", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2056", "end_pos": "2056", "site_lbl": "Ser2056", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2212", "end_pos": "2212", "site_lbl": "Ser2212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2221", "end_pos": "2221", "site_lbl": "Ser2221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2244", "end_pos": "2244", "site_lbl": "Ser2244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Ser745", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Ser748", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Ser783", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55017", "url": "https://www.uniprot.org/uniprotkb/O55017" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "O55017", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55017" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "1704", "end_pos": "1704", "site_lbl": "Tyr1704", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "2", "chr_pos": "24521996", "evidence": [ { "id": "rs3388534830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388534830" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "2132", "end_pos": "2132", "site_lbl": "Ser2132", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "2", "chr_pos": "24497506", "evidence": [ { "id": "rs3388528198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388528198" } ] } ] }, { "uniprot_canonical_ac": "O55017-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "2", "chr_pos": "24569254", "evidence": [ { "id": "rs27232104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27232104" } ] } ] } ], "record_id": "O55017-1" }, { "uniprot_canonical_ac": "Q9D9C7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9C7", "url": "https://www.uniprot.org/uniprotkb/Q9D9C7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 252, "chemical_mass": 28436.0, "gene_names": "1700102P08Rik;1700102P08Rik;Maps", "protein_name": "Uncharacterized protein C3orf62 homolog", "disease": [], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9D9C7", "url": "https://www.uniprot.org/uniprotkb/Q9D9C7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9D9C7", "url": "https://www.uniprot.org/uniprotkb/Q9D9C7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D9C7-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D9C7", "url": "https://www.uniprot.org/uniprotkb/Q9D9C7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q9D9C7-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ser209", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D9C7", "url": "https://www.uniprot.org/uniprotkb/Q9D9C7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] } ], "record_id": "Q9D9C7-1" }, { "uniprot_canonical_ac": "Q9ES28-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 862, "chemical_mass": 97056.0, "gene_names": "Arhgef7;Arhgef7;Cool;Kiaa0142;PIX;Pak3bp;beta-Pix;betaPix-b;betaPix-c;betaPix;cool-1;mKIAA0142;p85Cool1;p85SPR", "protein_name": "Rho guanine nucleotide exchange factor 7", "disease": [ { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "storage vacuole", "id": "GO:0000322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000322", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "ATP-dependent protein binding", "id": "GO:0043008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043008", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "positive regulation of growth hormone secretion", "id": "GO:0060124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060124", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "presynaptic actin cytoskeleton organization", "id": "GO:0099140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099140", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "negative regulation of microtubule nucleation", "id": "GO:1905833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905833", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asn422", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G47702MW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSAQCQEVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "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": "Q9ES28-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Thr575", "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": 575, "start_aa": "Thr", "end_pos": 575, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr575", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9ES28", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G29375NL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYPEPRNESECLSNIREFLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 62, "start_aa": "Asn", "end_pos": 62, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn62", "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": "Q9ES28-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "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": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ser164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Ser228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ser673", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Ser776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES28", "url": "https://www.uniprot.org/uniprotkb/Q9ES28" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ES28", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ES28" } ] } ] }, { "uniprot_canonical_ac": "Q9ES28-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "8", "chr_pos": "11832540", "evidence": [ { "id": "rs3388968398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388968398" } ] } ] } ], "record_id": "Q9ES28-1" }, { "uniprot_canonical_ac": "P08226-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 35867.0, "gene_names": "Apoe;Apo-E;Apoe", "protein_name": "Apolipoprotein E", "disease": [ { "disease_id": "DOID:0050639", "name": "primary cutaneous amyloidosis", "description": "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.", "url": "https://disease-ontology.org/term/DOID:0050639", "evidence": [ { "id": "0050639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050639" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.", "url": "https://disease-ontology.org/term/DOID:0050851", "evidence": [ { "id": "0050851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ], "weight": 0.0 }, { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection.", "url": "https://disease-ontology.org/term/DOID:0080158", "evidence": [ { "id": "0080158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0110014", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.", "url": "https://disease-ontology.org/term/DOID:0110014", "evidence": [ { "id": "0110014", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110014" } ], "weight": 0.0 }, { "disease_id": "DOID:0110035", "name": "Alzheimer's disease 2", "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.", "url": "https://disease-ontology.org/term/DOID:0110035", "evidence": [ { "id": "0110035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110035" } ], "weight": 0.0 }, { "disease_id": "DOID:0110042", "name": "Alzheimer's disease 3", "description": "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.", "url": "https://disease-ontology.org/term/DOID:0110042", "evidence": [ { "id": "0110042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110042" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "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:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "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: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3145", "name": "hyperlipoproteinemia type III", "description": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:3145", "evidence": [ { "id": "3145", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3145" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4423", "name": "sea-blue histiocytosis", "description": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.", "url": "https://disease-ontology.org/term/DOID:4423", "evidence": [ { "id": "4423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4423" } ], "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:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4606", "evidence": [ { "id": "4606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "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: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of plasma lipoprotein particle levels", "id": "GO:0097006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097006", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "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": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of membrane protein ectodomain proteolysis", "id": "GO:0051044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "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": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of amyloid fibril formation", "id": "GO:1905906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905906", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of amyloid precursor protein catabolic process", "id": "GO:1902991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902991", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "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": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "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": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "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": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cholesterol catabolic process", "id": "GO:0006707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006707", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010642", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle remodeling", "id": "GO:0034372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034372", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle clearance", "id": "GO:0034447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034447", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "acylglycerol homeostasis", "id": "GO:0055090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055090", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine development", "id": "GO:0061000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061000", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of platelet activation", "id": "GO:0010544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010544", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid transport involved in lipid storage", "id": "GO:0010877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010877", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "long-chain fatty acid transport", "id": "GO:0015909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015909", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "virion assembly", "id": "GO:0019068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019068", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle receptor catabolic process", "id": "GO:0032805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032805", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "host-mediated activation of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of cholesterol biosynthetic process", "id": "GO:0045541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045541", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of lipid biosynthetic process", "id": "GO:0051055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051055", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "maintenance of location in cell", "id": "GO:0051651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051651", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of cholesterol metabolic process", "id": "GO:0090205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090205", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of amyloid-beta clearance", "id": "GO:1900221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900221", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of postsynaptic membrane organization", "id": "GO:1901627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901627", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of presynaptic membrane organization", "id": "GO:1901631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901631", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine maintenance", "id": "GO:1902951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902951", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine maintenance", "id": "GO:1902952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902952", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of neurofibrillary tangle assembly", "id": "GO:1902998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902998", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of phospholipid efflux", "id": "GO:1902999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902999", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of lipid transport across blood-brain barrier", "id": "GO:1903001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903001", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of lipid transport across blood-brain barrier", "id": "GO:1903002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903002", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of cellular response to very-low-density lipoprotein particle stimulus", "id": "GO:1905890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905890", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of behavioral fear response", "id": "GO:2000822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000822", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of triglyceride metabolic process", "id": "GO:0090207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090207", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "negative regulation of protein metabolic process", "id": "GO:0051248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051248", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "positive regulation of lipoprotein transport", "id": "GO:0140077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140077", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "triglyceride-rich lipoprotein particle clearance", "id": "GO:0071830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071830", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle clearance", "id": "GO:0071831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071831", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cellular response to lipoprotein particle stimulus", "id": "GO:0071402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071402", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle", "id": "GO:0034363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034363", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipoprotein particle", "id": "GO:1990777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990777", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "discoidal high-density lipoprotein particle", "id": "GO:0034365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034365", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "extrinsic component of external side of plasma membrane", "id": "GO:0031232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031232", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "chylomicron remnant", "id": "GO:0034360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034360", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle", "id": "GO:0097487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097487", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "hydroxyapatite binding", "id": "GO:0046848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046848", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor binding", "id": "GO:0070326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070326", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "metal chelating activity", "id": "GO:0046911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046911", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P08226-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprotkb/P08226" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P08226", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08226" } ] } ] } ], "record_id": "P08226-1" }, { "uniprot_canonical_ac": "A2ASQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1950, "chemical_mass": 207539.0, "gene_names": "Agrn;Agrin;Agrn;nmf380", "protein_name": "Agrin", "disease": [ { "disease_id": "DOID:0110657", "name": "congenital myasthenic syndrome 8", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.", "url": "https://disease-ontology.org/term/DOID:0110657", "evidence": [ { "id": "0110657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110657" } ], "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": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "gel phase of basement membrane", "id": "GO:0140148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140148", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of axon guidance", "id": "GO:1902667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902667", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904395", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of protein binding", "id": "GO:0032092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032092", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "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": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "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": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell membrane potential", "id": "GO:0086036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086036", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "negative regulation of sodium ion export across plasma membrane", "id": "GO:1903277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903277", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "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": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "positive regulation of cellular component biogenesis", "id": "GO:0044089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044089", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetylcholine receptor regulator activity", "id": "GO:0030548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030548", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "dystroglycan binding", "id": "GO:0002162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002162", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "chondroitin sulfate binding", "id": "GO:0035374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035374", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activator activity", "id": "GO:0030297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030297", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "ATPase inhibitor activity", "id": "GO:0042030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042030", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "transporter inhibitor activity", "id": "GO:0141110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141110", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Asn145", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "A2ASQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->SVT); glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263758", "evidence": [ { "id": "rs3388725340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725340" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1502", "end_pos": "1502", "site_lbl": "Ser1502", "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": 1502, "start_aa": "Ser", "end_pos": 1502, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1502", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2ASQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2ASQ1" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "A2ASQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2ASQ1" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Ser1504", "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": 1504, "start_aa": "Ser", "end_pos": 1504, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1504", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2ASQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2ASQ1" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1717", "end_pos": "1717", "site_lbl": "Ser1717", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Fuc...) serine;O-fucosylation", "icn3d_view": {}, "start_pos": 1717, "start_aa": "Ser", "end_pos": 1717, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1717", "evidence": [ { "id": "A2ASQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1724", "end_pos": "1724", "site_lbl": "Thr1724", "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": 1724, "start_aa": "Thr", "end_pos": 1724, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1724", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2ASQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2ASQ1" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asn672", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 672, "start_aa": "Asn", "end_pos": 672, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn672", "evidence": [ { "id": "A2ASQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Asn827", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "evidence": [ { "id": "A2ASQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Thr875", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 875, "start_aa": "Thr", "end_pos": 875, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr875", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Thr929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 929, "start_aa": "Thr", "end_pos": 929, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr929", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258359", "evidence": [ { "id": "rs33242167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33242167" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Asn948", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 948, "start_aa": "Asn", "end_pos": 948, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn948", "evidence": [ { "id": "A2ASQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ser569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ASQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ASQ1" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ser571", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ASQ1", "url": "https://www.uniprot.org/uniprotkb/A2ASQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ASQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ASQ1" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1616", "end_pos": "1616", "site_lbl": "Arg1616", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NGR->NGS); glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254280", "evidence": [ { "id": "rs3388744470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744470" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Gly1000", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258042", "evidence": [ { "id": "rs3388737841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737841" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Met100", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263962", "evidence": [ { "id": "rs3388737789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737789" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263964", "evidence": [ { "id": "rs257265548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257265548" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1010", "end_pos": "1010", "site_lbl": "Ser1010", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258011", "evidence": [ { "id": "rs3388731003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731003" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Asn1011", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258007", "evidence": [ { "id": "rs3388737881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737881" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1012", "end_pos": "1012", "site_lbl": "Cys1012", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258005_156258006in", "evidence": [ { "id": "rs3395039995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395039995" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1015", "end_pos": "1015", "site_lbl": "Thr1015", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257584", "evidence": [ { "id": "rs3388741716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741716" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Val1027", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257549", "evidence": [ { "id": "rs3388739655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739655" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1048", "end_pos": "1048", "site_lbl": "Glu1048", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257486", "evidence": [ { "id": "rs3388744483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744483" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Pro1116", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257076", "evidence": [ { "id": "rs3388742220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742220" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Val1121", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257061", "evidence": [ { "id": "rs3388734964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734964" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Arg1126", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257045", "evidence": [ { "id": "rs33239526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33239526" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1130", "end_pos": "1130", "site_lbl": "Arg1130", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156257033", "evidence": [ { "id": "rs5526887029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526887029" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Asp1135", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156250971", "evidence": [ { "id": "rs3388741722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741722" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Thr1149", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256838", "evidence": [ { "id": "rs5526883700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526883700" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Pro1174", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256763", "evidence": [ { "id": "rs33238690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33238690" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1198", "end_pos": "1198", "site_lbl": "Ala1198", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256691", "evidence": [ { "id": "rs226820237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226820237" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1199", "end_pos": "1199", "site_lbl": "Ser1199", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256688", "evidence": [ { "id": "rs3388734644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734644" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1236", "end_pos": "1236", "site_lbl": "Ser1236", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256576", "evidence": [ { "id": "rs264246593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264246593" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Thr1240", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256565", "evidence": [ { "id": "rs3388713587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713587" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1242", "end_pos": "1242", "site_lbl": "Gly1242", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256558", "evidence": [ { "id": "rs3388727326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388727326" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1244", "end_pos": "1244", "site_lbl": "Ala1244", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256552", "evidence": [ { "id": "rs249765268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249765268" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1252", "end_pos": "1252", "site_lbl": "Gln1252", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256434", "evidence": [ { "id": "rs583082486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583082486" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1254", "end_pos": "1254", "site_lbl": "Pro1254", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256429", "evidence": [ { "id": "rs3388725328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725328" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1283", "end_pos": "1283", "site_lbl": "Arg1283", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256342", "evidence": [ { "id": "rs3388746188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746188" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1326", "end_pos": "1326", "site_lbl": "Thr1326", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156256042", "evidence": [ { "id": "rs3388731011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731011" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1352", "end_pos": "1352", "site_lbl": "Val1352", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255965", "evidence": [ { "id": "rs3388742276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742276" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1356", "end_pos": "1356", "site_lbl": "Ala1356", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255953", "evidence": [ { "id": "rs33236133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33236133" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1374", "end_pos": "1374", "site_lbl": "Lys1374", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255897", "evidence": [ { "id": "rs235765720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235765720" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Leu1380", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255881", "evidence": [ { "id": "rs33236128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33236128" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255881", "evidence": [ { "id": "rs33236128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33236128" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1382", "end_pos": "1382", "site_lbl": "Glu1382", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255873", "evidence": [ { "id": "rs3388744473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744473" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1383", "end_pos": "1383", "site_lbl": "Glu1383", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255872", "evidence": [ { "id": "rs3388725320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725320" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1387", "end_pos": "1387", "site_lbl": "Thr1387", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255859", "evidence": [ { "id": "rs33236125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33236125" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1425", "end_pos": "1425", "site_lbl": "Ser1425", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255375", "evidence": [ { "id": "rs3388734558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734558" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255374", "evidence": [ { "id": "rs3388746201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746201" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1428", "end_pos": "1428", "site_lbl": "Gly1428", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255366_156255367insTACCCCTCCACACTACCTCAACCATC", "evidence": [ { "id": "rs3388744464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744464" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1483", "end_pos": "1483", "site_lbl": "Ala1483", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255113", "evidence": [ { "id": "rs5526914470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526914470" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1484", "end_pos": "1484", "site_lbl": "Pro1484", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255111", "evidence": [ { "id": "rs3411600378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411600378" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1485", "end_pos": "1485", "site_lbl": "Cys1485", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255106", "evidence": [ { "id": "rs3395152414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395152414" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1492", "end_pos": "1492", "site_lbl": "Gly1492", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255087", "evidence": [ { "id": "rs3388713659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713659" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1495", "end_pos": "1495", "site_lbl": "Cys1495", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255078", "evidence": [ { "id": "rs3388741727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741727" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Ala1496", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255074", "evidence": [ { "id": "rs31942602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31942602" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156255074", "evidence": [ { "id": "rs31942602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31942602" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1515", "end_pos": "1515", "site_lbl": "Ser1515", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254850", "evidence": [ { "id": "rs224926806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224926806" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1528", "end_pos": "1528", "site_lbl": "Leu1528", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254812", "evidence": [ { "id": "rs254373235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254373235" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1548", "end_pos": "1548", "site_lbl": "Met1548", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254668", "evidence": [ { "id": "rs3388742271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742271" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Cys154", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156279709", "evidence": [ { "id": "rs3388742285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742285" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1580", "end_pos": "1580", "site_lbl": "Arg1580", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254572", "evidence": [ { "id": "rs3388713585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713585" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1592", "end_pos": "1592", "site_lbl": "Ala1592", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156254536", "evidence": [ { "id": "rs233871934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233871934" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1653", "end_pos": "1653", "site_lbl": "Gly1653", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253747", "evidence": [ { "id": "rs3388734966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734966" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1663", "end_pos": "1663", "site_lbl": "Gly1663", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253717", "evidence": [ { "id": "rs3388731066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731066" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1664", "end_pos": "1664", "site_lbl": "Ala1664", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253715", "evidence": [ { "id": "rs264872668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264872668" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1667", "end_pos": "1667", "site_lbl": "Ala1667", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253706", "evidence": [ { "id": "rs241300603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241300603" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1686", "end_pos": "1686", "site_lbl": "Thr1686", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253524", "evidence": [ { "id": "rs13474147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13474147" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Pro168", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263689", "evidence": [ { "id": "rs5526887038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526887038" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1709", "end_pos": "1709", "site_lbl": "Asp1709", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253455", "evidence": [ { "id": "rs217767270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217767270" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1710", "end_pos": "1710", "site_lbl": "Asn1710", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253453", "evidence": [ { "id": "rs253136289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253136289" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1723", "end_pos": "1723", "site_lbl": "Ala1723", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253413", "evidence": [ { "id": "rs214250280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214250280" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1730", "end_pos": "1730", "site_lbl": "Pro1730", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253393", "evidence": [ { "id": "rs225916444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225916444" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1736", "end_pos": "1736", "site_lbl": "Leu1736", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253375", "evidence": [ { "id": "rs3388737406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737406" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Arg1785", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156252246", "evidence": [ { "id": "rs3388742094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742094" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1810", "end_pos": "1810", "site_lbl": "Leu1810", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251833", "evidence": [ { "id": "rs3388739683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739683" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1820", "end_pos": "1820", "site_lbl": "Arg1820", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251871", "evidence": [ { "id": "rs241567836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241567836" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1825", "end_pos": "1825", "site_lbl": "Ala1825", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251857", "evidence": [ { "id": "rs3388724095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724095" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1829", "end_pos": "1829", "site_lbl": "Val1829", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251845", "evidence": [ { "id": "rs3388742057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742057" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1832", "end_pos": "1832", "site_lbl": "His1832", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251835", "evidence": [ { "id": "rs226894785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226894785" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1833", "end_pos": "1833", "site_lbl": "Leu1833", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251833", "evidence": [ { "id": "rs3388739683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739683" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Leu1839", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156253375", "evidence": [ { "id": "rs3388737406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737406" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1856", "end_pos": "1856", "site_lbl": "Arg1856", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251763", "evidence": [ { "id": "rs3543257510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543257510" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1862", "end_pos": "1862", "site_lbl": "Ala1862", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251746", "evidence": [ { "id": "rs3388724143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724143" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1877", "end_pos": "1877", "site_lbl": "Ala1877", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251433", "evidence": [ { "id": "rs3388737922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737922" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1909", "end_pos": "1909", "site_lbl": "Ala1909", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251857", "evidence": [ { "id": "rs3388724095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724095" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1919", "end_pos": "1919", "site_lbl": "Val1919", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156251050", "evidence": [ { "id": "rs3394870731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394870731" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "1945", "end_pos": "1945", "site_lbl": "Arg1945", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156250971", "evidence": [ { "id": "rs3388741722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741722" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asp209", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263567", "evidence": [ { "id": "rs248456940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248456940" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Gly210", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263564", "evidence": [ { "id": "rs3388744477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744477" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Pro214", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263461", "evidence": [ { "id": "rs3388735037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735037" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Arg240", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263383", "evidence": [ { "id": "rs3388737814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737814" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263306", "evidence": [ { "id": "rs225097570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225097570" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ala271", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263291", "evidence": [ { "id": "rs258523759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258523759" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ala325", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262981", "evidence": [ { "id": "rs3388739002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739002" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Gln326", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262977", "evidence": [ { "id": "rs3395151862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395151862" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Asp327", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262975", "evidence": [ { "id": "rs3395151846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395151846" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262976", "evidence": [ { "id": "rs3394855623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394855623" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Trp336", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262949", "evidence": [ { "id": "rs3388725398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725398" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Gln344", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262923", "evidence": [ { "id": "rs3388738991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738991" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Pro350", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156262906", "evidence": [ { "id": "rs231459918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231459918" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Val376", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261842", "evidence": [ { "id": "rs3388734641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734641" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Gly391", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261796", "evidence": [ { "id": "rs246588019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246588019" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Gly392", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261793", "evidence": [ { "id": "rs222493488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222493488" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Cys397", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261779", "evidence": [ { "id": "rs3388744418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744418" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Asp400", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261768", "evidence": [ { "id": "rs3388727412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388727412" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Arg422", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261703", "evidence": [ { "id": "rs222672245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222672245" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Val423", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261701", "evidence": [ { "id": "rs3388746176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746176" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261562", "evidence": [ { "id": "rs3388741796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741796" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Ser457", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261526", "evidence": [ { "id": "rs3388737888", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737888" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Glu472", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261480", "evidence": [ { "id": "rs3388737840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737840" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "482", "end_pos": "482", "site_lbl": "His482", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261451", "evidence": [ { "id": "rs3388744481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744481" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ser485", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261442", "evidence": [ { "id": "rs3388746142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746142" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Gly498", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261796", "evidence": [ { "id": "rs246588019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246588019" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Cys502", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261270", "evidence": [ { "id": "rs3388742093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742093" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Gly524", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261204", "evidence": [ { "id": "rs3388746155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746155" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Gly531", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261183", "evidence": [ { "id": "rs3388739629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739629" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Val532", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261181", "evidence": [ { "id": "rs3388739631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739631" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Gln547", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261136", "evidence": [ { "id": "rs3388741762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741762" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Arg555", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261111", "evidence": [ { "id": "rs262940919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262940919" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Glu563", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156261007", "evidence": [ { "id": "rs3388741770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741770" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Gln584", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260944", "evidence": [ { "id": "rs3388742218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742218" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Val618", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260763", "evidence": [ { "id": "rs229153755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229153755" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "625", "end_pos": "625", "site_lbl": "His625", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260742", "evidence": [ { "id": "rs262746172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262746172" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Arg630", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260727", "evidence": [ { "id": "rs246980392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246980392" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Arg634", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260714", "evidence": [ { "id": "rs230026967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230026967" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Val639", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260700", "evidence": [ { "id": "rs223744721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223744721" }, { "id": "rs3388739631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739631" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Ala640", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156260697", "evidence": [ { "id": "rs238899711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238899711" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ala651", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259661", "evidence": [ { "id": "rs3388713596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713596" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Thr664", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259623", "evidence": [ { "id": "rs3388742204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742204" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ser686", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259477", "evidence": [ { "id": "rs3388741721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741721" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Val703", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259427", "evidence": [ { "id": "rs3388737392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737392" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "736", "end_pos": "736", "site_lbl": "His736", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259327", "evidence": [ { "id": "rs233914106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233914106" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Phe74", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156264041", "evidence": [ { "id": "rs3388713627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713627" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "780", "end_pos": "780", "site_lbl": "Ala780", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259054", "evidence": [ { "id": "rs5526933882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526933882" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Leu784", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259043", "evidence": [ { "id": "rs248495130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248495130" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Cys786", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156259035", "evidence": [ { "id": "rs3388746226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746226" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Pro793", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258926", "evidence": [ { "id": "rs237644406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237644406" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Cys796", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258916", "evidence": [ { "id": "rs3388737893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737893" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Glu79", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156264027", "evidence": [ { "id": "rs3388738949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738949" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "800", "end_pos": "800", "site_lbl": "His800", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258904", "evidence": [ { "id": "rs33234866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33234866" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Phe813", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258866", "evidence": [ { "id": "rs3388737803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737803" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Gln815", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258858", "evidence": [ { "id": "rs3388744456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744456" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Arg853", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258673", "evidence": [ { "id": "rs5526914498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526914498" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Met879", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258509", "evidence": [ { "id": "rs218889805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218889805" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "880", "end_pos": "880", "site_lbl": "Thr880", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258505", "evidence": [ { "id": "rs3388734574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734574" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Ile885", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258490", "evidence": [ { "id": "rs33242170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33242170" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Arg888", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258481", "evidence": [ { "id": "rs248737090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248737090" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ser895", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258460", "evidence": [ { "id": "rs225842888", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225842888" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "907", "end_pos": "907", "site_lbl": "Asp907", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258424", "evidence": [ { "id": "rs3388744466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744466" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Leu936", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258337", "evidence": [ { "id": "rs3388725336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725336" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Ile940", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258325", "evidence": [ { "id": "rs33242164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33242164" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Lys94", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263982", "evidence": [ { "id": "rs3388741776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388741776" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "963", "end_pos": "963", "site_lbl": "Gly963", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258256_156258257insTCAACCATC", "evidence": [ { "id": "rs3388742240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742240" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258257", "evidence": [ { "id": "rs3388739671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739671" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Ser966", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258248", "evidence": [ { "id": "rs3388744482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744482" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Cys97", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156263972", "evidence": [ { "id": "rs3388731049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731049" } ] } ] }, { "uniprot_canonical_ac": "A2ASQ1-1", "start_pos": "992", "end_pos": "992", "site_lbl": "Ser992", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/agrin.", "chr_id": "4", "chr_pos": "156258065", "evidence": [ { "id": "rs5526887033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526887033" } ] } ] } ], "record_id": "A2ASQ1-1" }, { "uniprot_canonical_ac": "Q8VBT6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 942, "chemical_mass": 102705.0, "gene_names": "Apobr;Apob-48r;Apob48r;Apobr", "protein_name": "Apolipoprotein B receptor", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" } ], "biological_process": [ { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "foam cell differentiation", "id": "GO:0090077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090077", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" } ], "molecular_function": [ { "name": "very-low-density lipoprotein particle receptor activity", "id": "GO:0030229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030229", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" }, { "name": "lipoprotein particle receptor activity", "id": "GO:0030228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030228", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VBT6-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8VBT6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VBT6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBT6-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8VBT6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VBT6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBT6-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBT6", "url": "https://www.uniprot.org/uniprotkb/Q8VBT6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8VBT6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VBT6" } ] } ] } ], "record_id": "Q8VBT6-1" }, { "uniprot_canonical_ac": "Q9Z1N7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 568, "chemical_mass": 61015.0, "gene_names": "Arid3b;Arid3b;Bdp;Dri2;Dril2", "protein_name": "AT-rich interactive domain-containing protein 3B", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "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": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "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": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Thr360", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Thr529", "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": 529, "start_aa": "Thr", "end_pos": 529, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr529", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z1N7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1N7" }, { "id": "Q9Z1N7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z1N7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Thr552", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 552, "start_aa": "Thr", "end_pos": 552, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr552", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ser567", "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": 567, "start_aa": "Ser", "end_pos": 567, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser567", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z1N7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z1N7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N7-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N7", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N7" } ] } ] } ], "record_id": "Q9Z1N7-1" }, { "uniprot_canonical_ac": "P57780-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 912, "chemical_mass": 104977.0, "gene_names": "Actn4;Actn4", "protein_name": "Alpha-actinin-4", "disease": [ { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "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": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "pseudopodium", "id": "GO:0031143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031143", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "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": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic actin cytoskeleton", "id": "GO:0098973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098973", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "nucleoside binding", "id": "GO:0001882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001882", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "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": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "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": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "positive regulation of pinocytosis", "id": "GO:0048549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048549", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "vesicle transport along actin filament", "id": "GO:0030050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030050", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "podocyte cell migration", "id": "GO:0090521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090521", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "negative regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900025", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "protein localization to bicellular tight junction", "id": "GO:1902396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902396", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P57780-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Thr616", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 616, "start_aa": "Thr", "end_pos": 616, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr616", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "28597526", "evidence": [ { "id": "rs3388854028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854028" } ] } ] }, { "uniprot_canonical_ac": "P57780-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Asn681", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G08290VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ISIEMNGTLEDQLSHLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 681, "start_aa": "Asn", "end_pos": 681, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn681", "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": "P57780-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ] } ] }, { "uniprot_canonical_ac": "P57780-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Tyr32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ] } ] }, { "uniprot_canonical_ac": "P57780-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ] } ] }, { "uniprot_canonical_ac": "P57780-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Ser910", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprotkb/P57780" } ] } ] } ], "record_id": "P57780-1" }, { "uniprot_canonical_ac": "Q8C5H1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 955, "chemical_mass": 111544.0, "gene_names": "Ano4;A330096O15Rik;Ano4;Gm65;Tmem16d", "protein_name": "Anoctamin-4", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" } ], "biological_process": [ { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "calcium activated phosphatidylserine scrambling", "id": "GO:0061589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061589", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "calcium activated phosphatidylcholine scrambling", "id": "GO:0061590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061590", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" }, { "name": "calcium activated galactosylceramide scrambling", "id": "GO:0061591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061591", "evidence": [ { "database": "UniProtKB", "id": "Q8C5H1", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C5H1-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Asn257", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DTFFNNATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 257, "start_aa": "Asn", "end_pos": 257, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn257", "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": "Q8C5H1-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Asn544", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 544, "start_aa": "Asn", "end_pos": 544, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn544", "evidence": [ { "id": "Q8C5H1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C5H1-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Asn824", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 824, "start_aa": "Asn", "end_pos": 824, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn824", "evidence": [ { "id": "Q8C5H1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8C5H1-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Asn837", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 837, "start_aa": "Asn", "end_pos": 837, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn837", "evidence": [ { "id": "Q8C5H1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8C5H1#ptm_processing" } ] } ] } ], "record_id": "Q8C5H1-1" }, { "uniprot_canonical_ac": "Q91VR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 298, "chemical_mass": 32886.0, "gene_names": "Atp5f1c;1700094F02Rik;Atp5c1;Atp5f1c", "protein_name": "ATP synthase F(1) complex subunit gamma, mitochondrial", "disease": [ { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" } ], "biological_process": [ { "name": "proton motive force-driven ATP synthesis", "id": "GO:0015986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015986", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91VR2-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Asn259", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ESTTSEQSARMTAMDNASKNASDMIDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 259, "start_aa": "Asn", "end_pos": 259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "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": "Q91VR2-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Ser146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VR2", "url": "https://www.uniprot.org/uniprotkb/Q91VR2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91VR2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91VR2" } ] } ] } ], "record_id": "Q91VR2-1" }, { "uniprot_canonical_ac": "Q9DBF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 539, "chemical_mass": 58861.0, "gene_names": "Aldh7a1;Ald7a1;Aldh7a1;Atq1;D18Wsu181e", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "disease": [ { "disease_id": "DOID:0070519", "name": "early-onset vitamin B6-dependent epilepsy 4", "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.", "url": "https://disease-ontology.org/term/DOID:0070519", "evidence": [ { "id": "0070519", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070519" } ], "weight": 0.0 }, { "disease_id": "DOID:0080768", "name": "pyridoxine-dependent epilepsy", "description": "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.", "url": "https://disease-ontology.org/term/DOID:0080768", "evidence": [ { "id": "0080768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080768" } ], "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: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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" } ], "biological_process": [ { "name": "lysine catabolic process", "id": "GO:0006554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006554", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "glycine betaine biosynthetic process from choline", "id": "GO:0019285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019285", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "Golgi to endosome transport", "id": "GO:0006895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006895", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "negative regulation of Golgi to plasma membrane protein transport", "id": "GO:0042997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042997", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "plasma membrane to endosome transport", "id": "GO:0048227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048227", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "L-lysine catabolic process", "id": "GO:0019477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019477", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "negative regulation of endosome to plasma membrane protein transport", "id": "GO:1905750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905750", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity", "id": "GO:0004043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004043", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "betaine-aldehyde dehydrogenase (NAD+) activity", "id": "GO:0008802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008802", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "id": "GO:0016655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016655", "evidence": [ { "database": "UniProtKB", "id": "Q9DBF1", "url": "https://www.uniprot.org/uniprotkb/Q9DBF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ser476", "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": 476, "start_aa": "Ser", "end_pos": 476, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser476", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q9DBF1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9DBF1" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "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": 487, "start_aa": "Thr", "end_pos": 487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr487", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q9DBF1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9DBF1" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Ser488", "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": 488, "start_aa": "Ser", "end_pos": 488, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser488", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q9DBF1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9DBF1" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "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": 523, "start_aa": "Thr", "end_pos": 523, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr523", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q9DBF1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9DBF1" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Asn525", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "STCTINYSTSLPLAQGIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 525, "start_aa": "Asn", "end_pos": 525, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn525", "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": "Q9DBF1-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "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": 527, "start_aa": "Ser", "end_pos": 527, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser527", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q9DBF1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9DBF1" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9DBF1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9DBF1" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9DBF1-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Asn56", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EDNEGVYNGSWGGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "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": "Q9DBF1-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "18", "chr_pos": "56680006", "evidence": [ { "id": "rs3389495743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389495743" } ] } ] } ], "record_id": "Q9DBF1-1" }, { "uniprot_canonical_ac": "Q8K298-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1121, "chemical_mass": 122794.0, "gene_names": "Anln;1110037A17Rik;2900037I21Rik;Anln;Scraps", "protein_name": "Anillin", "disease": [ { "disease_id": "DOID:0111133", "name": "focal segmental glomerulosclerosis 8", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.", "url": "https://disease-ontology.org/term/DOID:0111133", "evidence": [ { "id": "0111133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111133" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "actomyosin contractile ring", "id": "GO:0005826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005826", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "bleb", "id": "GO:0032059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032059", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "podocyte cell migration", "id": "GO:0090521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090521", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "positive regulation of bleb assembly", "id": "GO:1904172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904172", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "actomyosin contractile ring assembly", "id": "GO:0000915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000915", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" }, { "name": "septin ring organization", "id": "GO:0031106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031106", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "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": 477, "start_aa": "Ser", "end_pos": 477, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser477", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q8K298", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K298" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "Q8K298", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K298" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "9", "chr_pos": "22279760", "evidence": [ { "id": "rs3389009657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009657" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Asn555", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 555, "start_aa": "Asn", "end_pos": 555, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn555", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2105", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2105" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Asn935", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G65414LI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TSNFTLVGSHTLSLSSVGDTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "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": "Q8K298-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Thr192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Thr316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Thr359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Thr392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Thr396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Ser513", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Ser556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Ser656", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Tyr666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ser673", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Ser787", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "924", "end_pos": "924", "site_lbl": "Ser924", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K298", "url": "https://www.uniprot.org/uniprotkb/Q8K298" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K298" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Ile599", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "9", "chr_pos": "22274040", "evidence": [ { "id": "rs3389004389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389004389" } ] } ] }, { "uniprot_canonical_ac": "Q8K298-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ile621", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVS).", "chr_id": "9", "chr_pos": "22272256", "evidence": [ { "id": "rs213152048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213152048" } ] } ] } ], "record_id": "Q8K298-1" }, { "uniprot_canonical_ac": "Q6NXK8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 526, "chemical_mass": 59668.0, "gene_names": "Asic1;ASIC1a;ASIC1b;ASIC;Accn2;Asic1;Asic;B530003N02Rik;BNaC2;Bnac2", "protein_name": "Acid-sensing ion channel 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "ligand-gated sodium channel activity", "id": "GO:0015280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015280", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "monoatomic ion-gated channel activity", "id": "GO:0022839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022839", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "pH-gated monoatomic ion channel activity", "id": "GO:0160128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160128", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" } ], "biological_process": [ { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "response to acidic pH", "id": "GO:0010447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010447", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "sensory perception of sour taste", "id": "GO:0050915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050915", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "cellular response to pH", "id": "GO:0071467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NXK8-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Asn366", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DQEYCVCEMPCNLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 366, "start_aa": "Asn", "end_pos": 366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn366", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 366, "start_aa": "Asn", "end_pos": 366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn366", "evidence": [ { "id": "Q6NXK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8#ptm_processing" }, { "id": "22442073", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22442073" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q6NXK8-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Asn393", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "evidence": [ { "id": "Q6NXK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8#ptm_processing" }, { "id": "22442073", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22442073" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q6NXK8-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q6NXK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXK8" }, { "database": "PubMed", "id": "22553040", "url": "https://glygen.org/publication/PubMed/22553040" } ] } ] }, { "uniprot_canonical_ac": "Q6NXK8-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" } ] } ] }, { "uniprot_canonical_ac": "Q6NXK8-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXK8", "url": "https://www.uniprot.org/uniprotkb/Q6NXK8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NXK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXK8" } ] } ] } ], "record_id": "Q6NXK8-1" }, { "uniprot_canonical_ac": "Q9Z0X1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 612, "chemical_mass": 66765.0, "gene_names": "Aifm1;AIFsh2;AIF;Aifm1;Aif;Hq;Pdcd8", "protein_name": "Apoptosis-inducing factor 1, mitochondrial", "disease": [ { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.", "url": "https://disease-ontology.org/term/DOID:0060536", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ], "weight": 0.0 }, { "disease_id": "DOID:0110212", "name": "Charcot-Marie-Tooth disease X-linked recessive 4", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0110212", "evidence": [ { "id": "0110212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110212" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID:0111502", "name": "combined oxidative phosphorylation deficiency 6", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.", "url": "https://disease-ontology.org/term/DOID:0111502", "evidence": [ { "id": "0111502", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111502" } ], "weight": 0.0 }, { "disease_id": "DOID:0111741", "name": "X-linked deafness 5", "description": "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.", "url": "https://disease-ontology.org/term/DOID:0111741", "evidence": [ { "id": "0111741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111741" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein import into mitochondrial intermembrane space", "id": "GO:0045041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045041", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex assembly", "id": "GO:0033108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033108", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "regulation of apoptotic DNA fragmentation", "id": "GO:1902510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902510", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "positive regulation of necroptotic process", "id": "GO:0060545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060545", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrial disulfide relay system", "id": "GO:0160203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160203", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cellular response to aldosterone", "id": "GO:1904045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904045", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" } ], "molecular_function": [ { "name": "NADH dehydrogenase activity", "id": "GO:0003954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003954", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "poly-ADP-D-ribose binding", "id": "GO:0072572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072572", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "electron-transferring-flavoprotein dehydrogenase activity", "id": "GO:0004174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004174", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "NAD(P)H oxidase H2O2-forming activity", "id": "GO:0016174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016174", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H", "id": "GO:0016651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016651", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILPQYLSNWTMEKVKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "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": "Q9Z0X1-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Thr520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ser529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Lys176", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Increases catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" }, { "database": "PubMed", "id": "11967568", "url": "https://glygen.org/publication/PubMed/11967568" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Trp195", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Increases redox potential, reacts faster to NADH and forms two-fold longer-lived CTC.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" }, { "database": "PubMed", "id": "19447115", "url": "https://glygen.org/publication/PubMed/19447115" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Lys254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolished DNA-binding without affecting binding to poly-ADP-ribose chains; when associated with A-264.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" }, { "database": "PubMed", "id": "21467298", "url": "https://glygen.org/publication/PubMed/21467298" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Arg264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished DNA-binding without affecting binding to poly-ADP-ribose chains; when associated with A-254.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" }, { "database": "PubMed", "id": "21467298", "url": "https://glygen.org/publication/PubMed/21467298" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Glu313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Increases catalytic efficiency 30-fold. Increases affinity for NADH 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X1" }, { "database": "PubMed", "id": "11967568", "url": "https://glygen.org/publication/PubMed/11967568" } ] } ] } ], "record_id": "Q9Z0X1-1" }, { "uniprot_canonical_ac": "Q9JII6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 325, "chemical_mass": 36587.0, "gene_names": "Akr1a1;2610201A18Rik;Akr1a1;Akr1a4", "protein_name": "Aldo-keto reductase family 1 member A1", "disease": [ { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "daunorubicin metabolic process", "id": "GO:0044597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044597", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "doxorubicin metabolic process", "id": "GO:0044598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044598", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "aldehyde catabolic process", "id": "GO:0046185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046185", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "D-glucuronate catabolic process to D-xylulose 5-phosphate", "id": "GO:0019640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019640", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "L-ascorbic acid biosynthetic process", "id": "GO:0019853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019853", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "D-glucuronate catabolic process", "id": "GO:0042840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042840", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "cellular detoxification of aldehyde", "id": "GO:0110095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110095", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "L-glucuronate reductase activity", "id": "GO:0047939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047939", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "glycerol dehydrogenase (NADP+) activity", "id": "GO:0047956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047956", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "methylglyoxal reductase (NADPH) (acetol producing) activity", "id": "GO:1990002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990002", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "allyl-alcohol dehydrogenase activity", "id": "GO:0047655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047655", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "glucuronolactone reductase activity", "id": "GO:0047941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047941", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "S-nitrosoglutathione reductase (NADH) activity", "id": "GO:0080007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080007", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "S-nitrosoglutathione reductase (NADPH) activity", "id": "GO:0160163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160163", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JII6-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ] } ] }, { "uniprot_canonical_ac": "Q9JII6-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ] } ] }, { "uniprot_canonical_ac": "Q9JII6-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JII6", "url": "https://www.uniprot.org/uniprotkb/Q9JII6" } ] } ] } ], "record_id": "Q9JII6-1" }, { "uniprot_canonical_ac": "Q922X9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 692, "chemical_mass": 78301.0, "gene_names": "Prmt7;4933402B05Rik;Kiaa1933;Prmt7", "protein_name": "Protein arginine N-methyltransferase 7", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "genomic imprinting", "id": "GO:0071514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071514", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "protein-arginine N-methyltransferase activity", "id": "GO:0016274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016274", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "histone H4R3 methyltransferase activity", "id": "GO:0044020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044020", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "protein-arginine omega-N monomethyltransferase activity", "id": "GO:0035241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035241", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "protein-arginine omega-N symmetric methyltransferase activity", "id": "GO:0035243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035243", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" }, { "name": "histone H4 methyltransferase activity", "id": "GO:0140939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140939", "evidence": [ { "database": "UniProtKB", "id": "Q922X9", "url": "https://www.uniprot.org/uniprotkb/Q922X9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922X9-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "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": 203, "start_aa": "Thr", "end_pos": 203, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr203", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q922X9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922X9" } ] } ] }, { "uniprot_canonical_ac": "Q922X9-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 84, "start_aa": "Thr", "end_pos": 84, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q922X9-1" }, { "uniprot_canonical_ac": "Q8R5C5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 376, "chemical_mass": 42281.0, "gene_names": "Actr1b;2310066K23Rik;Actr1b;Arp1b", "protein_name": "Beta-centractin", "disease": [], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" }, { "name": "dynactin complex", "id": "GO:0005869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005869", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R5C5", "url": "https://www.uniprot.org/uniprotkb/Q8R5C5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R5C5-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Asn16", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MESYDIIANQPVVIDNGSGVIKAGFAGDQIPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 16, "start_aa": "Asn", "end_pos": 16, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn16", "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" } ] } ] } ], "record_id": "Q8R5C5-1" }, { "uniprot_canonical_ac": "P14824-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 75885.0, "gene_names": "Anxa6;Anx6;AnxVI;Anxa6;Cabm;Camb", "protein_name": "Annexin A6", "disease": [ { "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 } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" }, { "name": "negative regulation of sequestering of calcium ion", "id": "GO:0051283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051283", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14824-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Thr123", "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": 123, "start_aa": "Thr", "end_pos": 123, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr123", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "P14824", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14824" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P14824", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P14824" } ] } ] }, { "uniprot_canonical_ac": "P14824-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ] } ] }, { "uniprot_canonical_ac": "P14824-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Tyr201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P14824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14824" } ] } ] }, { "uniprot_canonical_ac": "P14824-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Tyr30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P14824", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14824" } ] } ] }, { "uniprot_canonical_ac": "P14824-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ] } ] }, { "uniprot_canonical_ac": "P14824-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14824", "url": "https://www.uniprot.org/uniprotkb/P14824" } ] } ] } ], "record_id": "P14824-1" }, { "uniprot_canonical_ac": "O35643-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 943, "chemical_mass": 103935.0, "gene_names": "Ap1b1;Adtb1;Ap1b1;b2b1660Clo", "protein_name": "AP-1 complex subunit beta-1", "disease": [ { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "weight": 0.0 }, { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9562" } ], "weight": 0.0 } ], "biological_process": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "basolateral protein secretion", "id": "GO:0110010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110010", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "clathrin adaptor complex", "id": "GO:0030131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "O35643", "url": "https://www.uniprot.org/uniprotkb/O35643" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35643-1" }, { "uniprot_canonical_ac": "P46660-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 501, "chemical_mass": 55383.0, "gene_names": "Ina;Ina;NF-66;NF66;alpha-Inx", "protein_name": "Alpha-internexin", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "postsynaptic intermediate filament cytoskeleton", "id": "GO:0099160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099160", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic intermediate filament cytoskeleton", "id": "GO:0099184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099184", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46660-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Asn333", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23754GO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GANESLERQILELEERHSAEVAGYQDSIGQLESDLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "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": "P46660-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "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": 408, "start_aa": "Ser", "end_pos": 408, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser408", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Thr409", "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": 409, "start_aa": "Thr", "end_pos": 409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr409", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "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": 413, "start_aa": "Ser", "end_pos": 413, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser413", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "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": 415, "start_aa": "Ser", "end_pos": 415, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser415", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "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": 433, "start_aa": "Ser", "end_pos": 433, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser433", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "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": 434, "start_aa": "Ser", "end_pos": 434, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser434", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Thr435", "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": 435, "start_aa": "Thr", "end_pos": 435, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr435", "evidence": [ { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "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": 437, "start_aa": "Ser", "end_pos": 437, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser437", "evidence": [ { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ser440", "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": 440, "start_aa": "Ser", "end_pos": 440, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser440", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "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": 46, "start_aa": "Ser", "end_pos": 46, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser46", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ser494", "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": 494, "start_aa": "Ser", "end_pos": 494, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser494", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Thr495", "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": 495, "start_aa": "Thr", "end_pos": 495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "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": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "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": 50, "start_aa": "Ser", "end_pos": 50, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser50", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Thr51", "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": 51, "start_aa": "Thr", "end_pos": 51, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr51", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "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": 55, "start_aa": "Ser", "end_pos": 55, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser55", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "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": 72, "start_aa": "Ser", "end_pos": 72, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser72", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P46660", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P46660" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P46660", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P46660" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "P46660", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46660", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "P46660", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46660" } ] } ] }, { "uniprot_canonical_ac": "P46660-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Ser498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46660", "url": "https://www.uniprot.org/uniprotkb/P46660" } ] } ] } ], "record_id": "P46660-1" }, { "uniprot_canonical_ac": "Q8JZQ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 802, "chemical_mass": 89519.0, "gene_names": "Afg3l2;2310036I02Rik;Afg3l2;Emv66;par", "protein_name": "Mitochondrial inner membrane m-AAA protease component AFG3L2", "disease": [ { "disease_id": "DOID:0050944", "name": "spastic ataxia 5", "description": "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.", "url": "https://disease-ontology.org/term/DOID:0050944", "evidence": [ { "id": "0050944", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050944" } ], "weight": 0.0 }, { "disease_id": "DOID:0050952", "name": "spastic ataxia", "description": "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.", "url": "https://disease-ontology.org/term/DOID:0050952", "evidence": [ { "id": "0050952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050952" } ], "weight": 0.0 }, { "disease_id": "DOID:0050977", "name": "spinocerebellar ataxia 28", "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.", "url": "https://disease-ontology.org/term/DOID:0050977", "evidence": [ { "id": "0050977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050977" } ], "weight": 0.0 }, { "disease_id": "DOID:0080840", "name": "optic atrophy 12", "description": "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.", "url": "https://disease-ontology.org/term/DOID:0080840", "evidence": [ { "id": "0080840", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080840" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "ATP-dependent peptidase activity", "id": "GO:0004176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004176", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "membrane protein dislocase activity", "id": "GO:0140567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140567", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "m-AAA complex", "id": "GO:0005745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005745", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "perinuclear theca", "id": "GO:0033011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033011", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "sperm glycocalyx", "id": "GO:0120238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120238", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrial protein processing", "id": "GO:0034982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034982", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "cristae formation", "id": "GO:0042407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042407", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "membrane protein proteolysis", "id": "GO:0033619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033619", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "regulation of calcium import into the mitochondrion", "id": "GO:0110097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110097", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "glutathione import into mitochondrion", "id": "GO:0160007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160007", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "mitochondrial protein quality control", "id": "GO:0141164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141164", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" }, { "name": "cellular response to glutathione", "id": "GO:0072753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072753", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZQ2-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Thr346", "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": 346, "start_aa": "Thr", "end_pos": 346, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr346", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8JZQ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8JZQ2" } ] } ] }, { "uniprot_canonical_ac": "Q8JZQ2-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Glu574", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Absence of proteolytic activity. Loss of its processing into the mature form.", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" }, { "database": "PubMed", "id": "19656850", "url": "https://glygen.org/publication/PubMed/19656850" } ] } ] }, { "uniprot_canonical_ac": "Q8JZQ2-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Met665", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Knockin heterozygous mice develop normally but adult mice show signs of cerebellar ataxia. Cells from mutant mice display altered mitochondrial bioenergetics, with decreased basal oxygen consumption rate, ATP synthesis and mitochondrial membrane potential. Mitochondrial network formation and morphology is also altered, with greatly reduced expression of fusogenic Opa1 isoforms.", "evidence": [ { "database": "UniProtKB", "id": "Q8JZQ2", "url": "https://www.uniprot.org/uniprotkb/Q8JZQ2" }, { "database": "PubMed", "id": "30389403", "url": "https://glygen.org/publication/PubMed/30389403" } ] } ] } ], "record_id": "Q8JZQ2-1" }, { "uniprot_canonical_ac": "O35284-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 125, "chemical_mass": 14065.0, "gene_names": "Batf;B-ATF;Batf;SFA-2", "protein_name": "Basic leucine zipper transcriptional factor ATF-like", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "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": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "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": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "T-helper 2 cell differentiation", "id": "GO:0045064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045064", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "T-helper 17 cell differentiation", "id": "GO:0072539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072539", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" }, { "name": "T-helper 17 cell lineage commitment", "id": "GO:0072540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072540", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35284-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "12809553", "url": "https://glygen.org/publication/PubMed/12809553" }, { "database": "iPTMnet", "id": "O35284", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35284" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation; when associated with A-48.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "12809553", "url": "https://glygen.org/publication/PubMed/12809553" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Retains the ability to dimerize with JUNB and localization in the nucleus but abolishes DNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "12809553", "url": "https://glygen.org/publication/PubMed/12809553" } ] } ] }, { "uniprot_canonical_ac": "O35284-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "12809553", "url": "https://glygen.org/publication/PubMed/12809553" }, { "database": "iPTMnet", "id": "O35284", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35284" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased phosphorylation; when associated with A-43.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "12809553", "url": "https://glygen.org/publication/PubMed/12809553" } ] } ] }, { "uniprot_canonical_ac": "O35284-1", "start_pos": "55", "end_pos": "55", "site_lbl": "His55", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Impairs interaction with IRF4 and the recruitment of IRF4 to AICE motifs, leading to defects in mediate differentiation of Th17 cells. Loss of function; when associated with A-56; D-63 and K-77.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "22983707", "url": "https://glygen.org/publication/PubMed/22983707" }, { "database": "PubMed", "id": "22992524", "url": "https://glygen.org/publication/PubMed/22992524" } ] } ] }, { "uniprot_canonical_ac": "O35284-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Leu56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of function; when associated with Q-55; D-63 and K-77.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "22992524", "url": "https://glygen.org/publication/PubMed/22992524" } ] } ] }, { "uniprot_canonical_ac": "O35284-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Lys63", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Retains 50% of activity; when associated with 69-Q-T-70 and K-77. Loss of function; when associated with Q-55; A-56 and K-77.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "22992524", "url": "https://glygen.org/publication/PubMed/22992524" } ] } ] }, { "uniprot_canonical_ac": "O35284-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Glu77", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Does not affect interaction with IRF4 and ability to mediate differentiation of Th17 cells. Retains 50% of activity; when associated with D63 and 69-Q-T-70. Loss of function; when associated with Q-55; A-56 and D-63.", "evidence": [ { "database": "UniProtKB", "id": "O35284", "url": "https://www.uniprot.org/uniprotkb/O35284" }, { "database": "PubMed", "id": "22983707", "url": "https://glygen.org/publication/PubMed/22983707" }, { "database": "PubMed", "id": "22992524", "url": "https://glygen.org/publication/PubMed/22992524" } ] } ] } ], "record_id": "O35284-1" }, { "uniprot_canonical_ac": "Q4ZJM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 24928.0, "gene_names": "C1ql4;C1ql4;C1qtnf11;CTRP11;Ctrp11", "protein_name": "Complement C1q-like protein 4", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" }, { "name": "trans-synaptic signaling, modulating synaptic transmission", "id": "GO:0099550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099550", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4ZJM9-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Cys28", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect homo-, nor heterooligomerization with C1QL1, C1QL2 and C1QL3; when associated with A-32. Increased secretion; when associated with A-32. Does not impair inhibition of adipocyte differentiation; when associated with A-32.", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] } ] }, { "uniprot_canonical_ac": "Q4ZJM9-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Cys32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect homo-, nor heterooligomerization with C1QL1, C1QL2 and C1QL3; when associated with A-28. Increased secretion; when associated with A-28. Does not impair inhibition of adipocyte differentiation; when associated with A-28.", "evidence": [ { "database": "UniProtKB", "id": "Q4ZJM9", "url": "https://www.uniprot.org/uniprotkb/Q4ZJM9" }, { "database": "PubMed", "id": "23449976", "url": "https://glygen.org/publication/PubMed/23449976" } ] } ] } ], "record_id": "Q4ZJM9-1" }, { "uniprot_canonical_ac": "Q9CQC5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 27686.0, "gene_names": "Cdc42ep3;3200001F04Rik;Borg2;Cdc42ep3;Cep3;UB1", "protein_name": "Cdc42 effector protein 3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" } ], "biological_process": [ { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQC5-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9CQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQC5" } ] } ] }, { "uniprot_canonical_ac": "Q9CQC5-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQC5" } ] } ] }, { "uniprot_canonical_ac": "Q9CQC5-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Tyr63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9CQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQC5" } ] } ] }, { "uniprot_canonical_ac": "Q9CQC5-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQC5", "url": "https://www.uniprot.org/uniprotkb/Q9CQC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQC5" } ] } ] } ], "record_id": "Q9CQC5-1" }, { "uniprot_canonical_ac": "P97864-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 34061.0, "gene_names": "Casp7;CMH-1;Casp7;ICE-IAP3;Lice2;Mch3;caspase-7;mCASP-7", "protein_name": "Caspase-7", "disease": [ { "disease_id": "DOID:1002", "name": "endometritis", "description": "An endometrial disease that is characterized by inflammation of the endometrium.", "url": "https://disease-ontology.org/term/DOID:1002", "evidence": [ { "id": "1002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1002" } ], "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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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: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": "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 } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "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": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "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": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cellular response to staurosporine", "id": "GO:0072734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072734", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "fibroblast apoptotic process", "id": "GO:0044346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044346", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "protein poly-ADP-ribosylation", "id": "GO:0070212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070212", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "lymphocyte apoptotic process", "id": "GO:0070227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070227", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "positive regulation of plasma membrane repair", "id": "GO:1905686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905686", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" }, { "name": "caspase complex", "id": "GO:0008303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008303", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97864-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Thr173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ] } ] }, { "uniprot_canonical_ac": "P97864-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ] } ] }, { "uniprot_canonical_ac": "P97864-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" } ] } ] }, { "uniprot_canonical_ac": "P97864-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asp198", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolished cleavage and activation; when associated with A-23.", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" }, { "database": "PubMed", "id": "18667412", "url": "https://glygen.org/publication/PubMed/18667412" } ] } ] }, { "uniprot_canonical_ac": "P97864-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Asp23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolished cleavage and activation; when associated with A-198.", "evidence": [ { "database": "UniProtKB", "id": "P97864", "url": "https://www.uniprot.org/uniprotkb/P97864" }, { "database": "PubMed", "id": "18667412", "url": "https://glygen.org/publication/PubMed/18667412" } ] } ] } ], "record_id": "P97864-1" }, { "uniprot_canonical_ac": "A2ARV4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4660, "chemical_mass": 519208.0, "gene_names": "Lrp2;D230004K18Rik;Gp330;Lrp2;Megalin;b2b1625.2Clo", "protein_name": "Low-density lipoprotein receptor-related protein 2", "disease": [ { "disease_id": "DOID:0090144", "name": "Donnai-Barrow syndrome", "description": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0090144", "evidence": [ { "id": "0090144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090144" } ], "weight": 0.0 }, { "disease_id": "DOID:1062", "name": "Fanconi syndrome", "description": "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.", "url": "https://disease-ontology.org/term/DOID:1062", "evidence": [ { "id": "1062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1062" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11829", "name": "degenerative myopia", "description": "", "url": "https://disease-ontology.org/term/DOID:11829", "evidence": [ { "id": "11829", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11829" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin metabolic process", "id": "GO:0006766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006766", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "alcohol metabolic process", "id": "GO:0006066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006066", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "vagina development", "id": "GO:0060068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060068", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "pulmonary artery morphogenesis", "id": "GO:0061156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061156", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "ventricular compact myocardium morphogenesis", "id": "GO:0003223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003223", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "chemoattraction of axon", "id": "GO:0061642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061642", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070447", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "neuron projection arborization", "id": "GO:0140058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140058", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "folate import across plasma membrane", "id": "GO:1904447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904447", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endocytic hemoglobin import into cell", "id": "GO:0020028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020028", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "positive regulation of lipoprotein transport", "id": "GO:0140077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140077", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "hemoglobin binding", "id": "GO:0030492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030492", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "insulin-like growth factor I binding", "id": "GO:0031994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031994", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" }, { "name": "protein transporter activity", "id": "GO:0140318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140318", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1022", "end_pos": "1022", "site_lbl": "Thr1022", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1022;+center+selection;+zoom+selection" }, "start_pos": 1022, "start_aa": "Thr", "end_pos": 1022, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1022", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1022", "database": "", "url": "" }, { "id": "8EM4|B|1022", "database": "", "url": "" }, { "id": "8EM7|A|1022", "database": "", "url": "" }, { "id": "8EM7|B|1022", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Asn1063", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1063, "start_aa": "Asn", "end_pos": 1063, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1063", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1065", "end_pos": "1065", "site_lbl": "Thr1065", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1065;+center+selection;+zoom+selection" }, "start_pos": 1065, "start_aa": "Thr", "end_pos": 1065, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1065", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1065", "database": "", "url": "" }, { "id": "8EM4|B|1065", "database": "", "url": "" }, { "id": "8EM7|A|1065", "database": "", "url": "" }, { "id": "8EM7|B|1065", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:107;+center+selection;+zoom+selection" }, "start_pos": 107, "start_aa": "Thr", "end_pos": 107, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "evidence": [ { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|107", "database": "", "url": "" }, { "id": "8EM7|B|107", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1103", "end_pos": "1103", "site_lbl": "Thr1103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1103;+center+selection;+zoom+selection" }, "start_pos": 1103, "start_aa": "Thr", "end_pos": 1103, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1103", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1103", "database": "", "url": "" }, { "id": "8EM4|B|1103", "database": "", "url": "" }, { "id": "8EM7|A|1103", "database": "", "url": "" }, { "id": "8EM7|B|1103", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1109", "end_pos": "1109", "site_lbl": "Thr1109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1109;+center+selection;+zoom+selection" }, "start_pos": 1109, "start_aa": "Thr", "end_pos": 1109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1109", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1109", "database": "", "url": "" }, { "id": "8EM4|B|1109", "database": "", "url": "" }, { "id": "8EM7|A|1109", "database": "", "url": "" }, { "id": "8EM7|B|1109", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Thr1149", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1149;+center+selection;+zoom+selection" }, "start_pos": 1149, "start_aa": "Thr", "end_pos": 1149, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1149", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1149", "database": "", "url": "" }, { "id": "8EM4|B|1149", "database": "", "url": "" }, { "id": "8EM7|A|1149", "database": "", "url": "" }, { "id": "8EM7|B|1149", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1187", "end_pos": "1187", "site_lbl": "Asn1187", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1187, "start_aa": "Asn", "end_pos": 1187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1187", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G27336AY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1187, "start_aa": "Asn", "end_pos": 1187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1187", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1187, "start_aa": "Asn", "end_pos": 1187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1187", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G57471MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1187, "start_aa": "Asn", "end_pos": 1187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1187", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1187;+center+selection;+zoom+selection" }, "start_pos": 1187, "start_aa": "Asn", "end_pos": 1187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1187", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1187", "database": "", "url": "" }, { "id": "8EM4|B|1187", "database": "", "url": "" }, { "id": "8EM7|A|1187", "database": "", "url": "" }, { "id": "8EM7|B|1187", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1225", "end_pos": "1225", "site_lbl": "Thr1225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1225;+center+selection;+zoom+selection" }, "start_pos": 1225, "start_aa": "Thr", "end_pos": 1225, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1225", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1225", "database": "", "url": "" }, { "id": "8EM4|B|1225", "database": "", "url": "" }, { "id": "8EM7|A|1225", "database": "", "url": "" }, { "id": "8EM7|B|1225", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1271", "end_pos": "1271", "site_lbl": "Thr1271", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1271;+center+selection;+zoom+selection" }, "start_pos": 1271, "start_aa": "Thr", "end_pos": 1271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1271", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1271", "database": "", "url": "" }, { "id": "8EM4|B|1271", "database": "", "url": "" }, { "id": "8EM7|A|1271", "database": "", "url": "" }, { "id": "8EM7|B|1271", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1308", "end_pos": "1308", "site_lbl": "Thr1308", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:1308;+center+selection;+zoom+selection" }, "start_pos": 1308, "start_aa": "Thr", "end_pos": 1308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1308", "evidence": [ { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|1308", "database": "", "url": "" }, { "id": "8EM7|B|1308", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1328", "end_pos": "1328", "site_lbl": "Asn1328", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:1328;+center+selection;+zoom+selection" }, "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1328", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|1328", "database": "", "url": "" }, { "id": "8EM7|B|1328", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1341", "end_pos": "1341", "site_lbl": "Asn1341", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:1341;+center+selection;+zoom+selection" }, "start_pos": 1341, "start_aa": "Asn", "end_pos": 1341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1341", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|1341", "database": "", "url": "" }, { "id": "8EM7|B|1341", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Asn1384", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1384;+center+selection;+zoom+selection" }, "start_pos": 1384, "start_aa": "Asn", "end_pos": 1384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1384", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1384", "database": "", "url": "" }, { "id": "8EM4|B|1384", "database": "", "url": "" }, { "id": "8EM7|A|1384", "database": "", "url": "" }, { "id": "8EM7|B|1384", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Asn1451", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1451;+center+selection;+zoom+selection" }, "start_pos": 1451, "start_aa": "Asn", "end_pos": 1451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1451", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1451", "database": "", "url": "" }, { "id": "8EM4|B|1451", "database": "", "url": "" }, { "id": "8EM7|A|1451", "database": "", "url": "" }, { "id": "8EM7|B|1451", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1497", "end_pos": "1497", "site_lbl": "Asn1497", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TWSAFQNGTDKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "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" } ] }, { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G06337UR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35510GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79421NO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1497;+center+selection;+zoom+selection" }, "start_pos": 1497, "start_aa": "Asn", "end_pos": 1497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1497", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1497", "database": "", "url": "" }, { "id": "8EM4|B|1497", "database": "", "url": "" }, { "id": "8EM7|A|1497", "database": "", "url": "" }, { "id": "8EM7|B|1497", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1551", "end_pos": "1551", "site_lbl": "Asn1551", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1551;+center+selection;+zoom+selection" }, "start_pos": 1551, "start_aa": "Asn", "end_pos": 1551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1551", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1551", "database": "", "url": "" }, { "id": "8EM4|B|1551", "database": "", "url": "" }, { "id": "8EM7|A|1551", "database": "", "url": "" }, { "id": "8EM7|B|1551", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Asn159", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:159;+center+selection;+zoom+selection" }, "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|159", "database": "", "url": "" }, { "id": "8EM7|B|159", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1676", "end_pos": "1676", "site_lbl": "Asn1676", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1676;+center+selection;+zoom+selection" }, "start_pos": 1676, "start_aa": "Asn", "end_pos": 1676, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1676", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1676", "database": "", "url": "" }, { "id": "8EM4|B|1676", "database": "", "url": "" }, { "id": "8EM7|A|1676", "database": "", "url": "" }, { "id": "8EM7|B|1676", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1733", "end_pos": "1733", "site_lbl": "Asn1733", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1733;+center+selection;+zoom+selection" }, "start_pos": 1733, "start_aa": "Asn", "end_pos": 1733, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1733", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1733", "database": "", "url": "" }, { "id": "8EM4|B|1733", "database": "", "url": "" }, { "id": "8EM7|A|1733", "database": "", "url": "" }, { "id": "8EM7|B|1733", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G15908WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G27336AY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G38025GO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G44231RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G46312WW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G72547HM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "glytoucan_ac": "G79421NO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "A2ARV5", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV5" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:178;+center+selection;+zoom+selection" }, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|178", "database": "", "url": "" }, { "id": "8EM7|B|178", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1811", "end_pos": "1811", "site_lbl": "Asn1811", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:1811;+center+selection;+zoom+selection" }, "start_pos": 1811, "start_aa": "Asn", "end_pos": 1811, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1811", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|1811", "database": "", "url": "" }, { "id": "8EM4|B|1811", "database": "", "url": "" }, { "id": "8EM7|A|1811", "database": "", "url": "" }, { "id": "8EM7|B|1811", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2131", "end_pos": "2131", "site_lbl": "Asn2131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2131, "start_aa": "Asn", "end_pos": 2131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2131", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2134", "end_pos": "2134", "site_lbl": "Asn2134", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2134;+center+selection;+zoom+selection" }, "start_pos": 2134, "start_aa": "Asn", "end_pos": 2134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2134", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2134", "database": "", "url": "" }, { "id": "8EM4|B|2134", "database": "", "url": "" }, { "id": "8EM7|A|2134", "database": "", "url": "" }, { "id": "8EM7|B|2134", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2178", "end_pos": "2178", "site_lbl": "Asn2178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2178, "start_aa": "Asn", "end_pos": 2178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2178", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Thr221", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:221;+center+selection;+zoom+selection" }, "start_pos": 221, "start_aa": "Thr", "end_pos": 221, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr221", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|221", "database": "", "url": "" }, { "id": "8EM4|B|221", "database": "", "url": "" }, { "id": "8EM7|A|221", "database": "", "url": "" }, { "id": "8EM7|B|221", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2225", "end_pos": "2225", "site_lbl": "Asn2225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G21952EN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G28868TO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35510GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G46312WW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G72547HM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79421NO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SFLDCTNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2225;+center+selection;+zoom+selection" }, "start_pos": 2225, "start_aa": "Asn", "end_pos": 2225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2225", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2225", "database": "", "url": "" }, { "id": "8EM4|B|2225", "database": "", "url": "" }, { "id": "8EM7|A|2225", "database": "", "url": "" }, { "id": "8EM7|B|2225", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2396", "end_pos": "2396", "site_lbl": "Asn2396", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EDFLIYSLNNSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2396, "start_aa": "Asn", "end_pos": 2396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2396", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2396;+center+selection;+zoom+selection" }, "start_pos": 2396, "start_aa": "Asn", "end_pos": 2396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2396", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2396", "database": "", "url": "" }, { "id": "8EM4|B|2396", "database": "", "url": "" }, { "id": "8EM7|A|2396", "database": "", "url": "" }, { "id": "8EM7|B|2396", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2488", "end_pos": "2488", "site_lbl": "Asn2488", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2488, "start_aa": "Asn", "end_pos": 2488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2488", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G43263RD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2488, "start_aa": "Asn", "end_pos": 2488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2488", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44162YF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2488, "start_aa": "Asn", "end_pos": 2488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2488", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G81483IQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2488, "start_aa": "Asn", "end_pos": 2488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2488", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2488;+center+selection;+zoom+selection" }, "start_pos": 2488, "start_aa": "Asn", "end_pos": 2488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2488", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2488", "database": "", "url": "" }, { "id": "8EM4|B|2488", "database": "", "url": "" }, { "id": "8EM7|A|2488", "database": "", "url": "" }, { "id": "8EM7|B|2488", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2548", "end_pos": "2548", "site_lbl": "Asn2548", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2548;+center+selection;+zoom+selection" }, "start_pos": 2548, "start_aa": "Asn", "end_pos": 2548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2548", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2548", "database": "", "url": "" }, { "id": "8EM4|B|2548", "database": "", "url": "" }, { "id": "8EM7|A|2548", "database": "", "url": "" }, { "id": "8EM7|B|2548", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2741", "end_pos": "2741", "site_lbl": "Thr2741", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:2741;+center+selection;+zoom+selection" }, "start_pos": 2741, "start_aa": "Thr", "end_pos": 2741, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2741", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|2741", "database": "", "url": "" }, { "id": "8EM4|B|2741", "database": "", "url": "" }, { "id": "8EM7|A|2741", "database": "", "url": "" }, { "id": "8EM7|B|2741", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2782", "end_pos": "2782", "site_lbl": "Asn2782", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2782;+center+selection;+zoom+selection" }, "start_pos": 2782, "start_aa": "Asn", "end_pos": 2782, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2782", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2782", "database": "", "url": "" }, { "id": "8EM7|B|2782", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2810", "end_pos": "2810", "site_lbl": "Asn2810", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2810;+center+selection;+zoom+selection" }, "start_pos": 2810, "start_aa": "Asn", "end_pos": 2810, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2810", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2810", "database": "", "url": "" }, { "id": "8EM7|B|2810", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2822", "end_pos": "2822", "site_lbl": "Thr2822", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2822;+center+selection;+zoom+selection" }, "start_pos": 2822, "start_aa": "Thr", "end_pos": 2822, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2822", "evidence": [ { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2822", "database": "", "url": "" }, { "id": "8EM7|B|2822", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2864", "end_pos": "2864", "site_lbl": "Thr2864", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2864;+center+selection;+zoom+selection" }, "start_pos": 2864, "start_aa": "Thr", "end_pos": 2864, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2864", "evidence": [ { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2864", "database": "", "url": "" }, { "id": "8EM7|B|2864", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2949", "end_pos": "2949", "site_lbl": "Asn2949", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HHCELQNCSSTEFTCINSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "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" } ] }, { "glytoucan_ac": "G22267GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G27336AY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G57471MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2949;+center+selection;+zoom+selection" }, "start_pos": 2949, "start_aa": "Asn", "end_pos": 2949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2949", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2949", "database": "", "url": "" }, { "id": "8EM7|B|2949", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->YCS).", "chr_id": "2", "chr_pos": "69302883", "evidence": [ { "id": "rs3391465407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391465407" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2989", "end_pos": "2989", "site_lbl": "Asn2989", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:2989;+center+selection;+zoom+selection" }, "start_pos": 2989, "start_aa": "Asn", "end_pos": 2989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2989", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|2989", "database": "", "url": "" }, { "id": "8EM7|B|2989", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Asn299", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 299, "start_aa": "Asn", "end_pos": 299, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn299", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3072", "end_pos": "3072", "site_lbl": "Thr3072", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3072;+center+selection;+zoom+selection" }, "start_pos": 3072, "start_aa": "Thr", "end_pos": 3072, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3072", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3072", "database": "", "url": "" }, { "id": "8EM4|B|3072", "database": "", "url": "" }, { "id": "8EM7|A|3072", "database": "", "url": "" }, { "id": "8EM7|B|3072", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3076", "end_pos": "3076", "site_lbl": "Thr3076", "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": 3076, "start_aa": "Thr", "end_pos": 3076, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3076", "evidence": [ { "id": "39950214", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39950214" }, { "id": "A2ARV4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2ARV4" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3076;+center+selection;+zoom+selection" }, "start_pos": 3076, "start_aa": "Thr", "end_pos": 3076, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3076", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3076", "database": "", "url": "" }, { "id": "8EM4|B|3076", "database": "", "url": "" }, { "id": "8EM7|A|3076", "database": "", "url": "" }, { "id": "8EM7|B|3076", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3127", "end_pos": "3127", "site_lbl": "Asn3127", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3127;+center+selection;+zoom+selection" }, "start_pos": 3127, "start_aa": "Asn", "end_pos": 3127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3127", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3127", "database": "", "url": "" }, { "id": "8EM4|B|3127", "database": "", "url": "" }, { "id": "8EM7|A|3127", "database": "", "url": "" }, { "id": "8EM7|B|3127", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3213", "end_pos": "3213", "site_lbl": "Asn3213", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3213;+center+selection;+zoom+selection" }, "start_pos": 3213, "start_aa": "Asn", "end_pos": 3213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3213", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3213", "database": "", "url": "" }, { "id": "8EM4|B|3213", "database": "", "url": "" }, { "id": "8EM7|A|3213", "database": "", "url": "" }, { "id": "8EM7|B|3213", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3259", "end_pos": "3259", "site_lbl": "Asn3259", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3259;+center+selection;+zoom+selection" }, "start_pos": 3259, "start_aa": "Asn", "end_pos": 3259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3259", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3259", "database": "", "url": "" }, { "id": "8EM4|B|3259", "database": "", "url": "" }, { "id": "8EM7|A|3259", "database": "", "url": "" }, { "id": "8EM7|B|3259", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3317", "end_pos": "3317", "site_lbl": "Asn3317", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00490MQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G00492PO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G05622OS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G06337UR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G13749ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15294CB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15450FJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15908WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G22267GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G23432EQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G27336AY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G28868TO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G31040BO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G33012CU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35510GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G36534AG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G39619TI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44231RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G53242AT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G57471MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MLAQHCVDANNTFCFENPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "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" } ] }, { "glytoucan_ac": "G67419ZC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G71059MG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G76329LA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G78977TF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79421NO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79568CQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G92454UR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G92725GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G93759JJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G98147MD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3317;+center+selection;+zoom+selection" }, "start_pos": 3317, "start_aa": "Asn", "end_pos": 3317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3317", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3317", "database": "", "url": "" }, { "id": "8EM4|B|3317", "database": "", "url": "" }, { "id": "8EM7|A|3317", "database": "", "url": "" }, { "id": "8EM7|B|3317", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3357", "end_pos": "3357", "site_lbl": "Asn3357", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGMDGTNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3357, "start_aa": "Asn", "end_pos": 3357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3357", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3357;+center+selection;+zoom+selection" }, "start_pos": 3357, "start_aa": "Asn", "end_pos": 3357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3357", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3357", "database": "", "url": "" }, { "id": "8EM4|B|3357", "database": "", "url": "" }, { "id": "8EM7|A|3357", "database": "", "url": "" }, { "id": "8EM7|B|3357", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Asn340", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:340;+center+selection;+zoom+selection" }, "start_pos": 340, "start_aa": "Asn", "end_pos": 340, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn340", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|340", "database": "", "url": "" }, { "id": "8EM4|B|340", "database": "", "url": "" }, { "id": "8EM7|A|340", "database": "", "url": "" }, { "id": "8EM7|B|340", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->KDS).", "chr_id": "2", "chr_pos": "69363816", "evidence": [ { "id": "rs3388557234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557234" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3448", "end_pos": "3448", "site_lbl": "Asn3448", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3448;+center+selection;+zoom+selection" }, "start_pos": 3448, "start_aa": "Asn", "end_pos": 3448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3448", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3448", "database": "", "url": "" }, { "id": "8EM4|B|3448", "database": "", "url": "" }, { "id": "8EM7|A|3448", "database": "", "url": "" }, { "id": "8EM7|B|3448", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->ITT).", "chr_id": "2", "chr_pos": "69294974", "evidence": [ { "id": "rs3388556788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556788" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3566", "end_pos": "3566", "site_lbl": "Asn3566", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G13749ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15294CB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15908WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G27336AY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G28868TO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35510GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G46312WW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G72547HM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79421NO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79568CQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G83813WM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G92454UR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G98147MD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A2ARV4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3566;+center+selection;+zoom+selection" }, "start_pos": 3566, "start_aa": "Asn", "end_pos": 3566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3566", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3566", "database": "", "url": "" }, { "id": "8EM4|B|3566", "database": "", "url": "" }, { "id": "8EM7|A|3566", "database": "", "url": "" }, { "id": "8EM7|B|3566", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3682", "end_pos": "3682", "site_lbl": "Asn3682", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3682;+center+selection;+zoom+selection" }, "start_pos": 3682, "start_aa": "Asn", "end_pos": 3682, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3682", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3682", "database": "", "url": "" }, { "id": "8EM4|B|3682", "database": "", "url": "" }, { "id": "8EM7|A|3682", "database": "", "url": "" }, { "id": "8EM7|B|3682", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3799", "end_pos": "3799", "site_lbl": "Thr3799", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3799;+center+selection;+zoom+selection" }, "start_pos": 3799, "start_aa": "Thr", "end_pos": 3799, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3799", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3799", "database": "", "url": "" }, { "id": "8EM4|B|3799", "database": "", "url": "" }, { "id": "8EM7|A|3799", "database": "", "url": "" }, { "id": "8EM7|B|3799", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3836", "end_pos": "3836", "site_lbl": "Thr3836", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3836;+center+selection;+zoom+selection" }, "start_pos": 3836, "start_aa": "Thr", "end_pos": 3836, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3836", "evidence": [ { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3836", "database": "", "url": "" }, { "id": "8EM4|B|3836", "database": "", "url": "" }, { "id": "8EM7|A|3836", "database": "", "url": "" }, { "id": "8EM7|B|3836", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3840", "end_pos": "3840", "site_lbl": "Asn3840", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:3840;+center+selection;+zoom+selection" }, "start_pos": 3840, "start_aa": "Asn", "end_pos": 3840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3840", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|3840", "database": "", "url": "" }, { "id": "8EM4|B|3840", "database": "", "url": "" }, { "id": "8EM7|A|3840", "database": "", "url": "" }, { "id": "8EM7|B|3840", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asn387", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:387;+center+selection;+zoom+selection" }, "start_pos": 387, "start_aa": "Asn", "end_pos": 387, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn387", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|387", "database": "", "url": "" }, { "id": "8EM4|B|387", "database": "", "url": "" }, { "id": "8EM7|A|387", "database": "", "url": "" }, { "id": "8EM7|B|387", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3926", "end_pos": "3926", "site_lbl": "Thr3926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:3926;+center+selection;+zoom+selection" }, "start_pos": 3926, "start_aa": "Thr", "end_pos": 3926, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3926", "evidence": [ { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|3926", "database": "", "url": "" }, { "id": "8EM7|B|3926", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3969", "end_pos": "3969", "site_lbl": "Asn3969", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:3969;+center+selection;+zoom+selection" }, "start_pos": 3969, "start_aa": "Asn", "end_pos": 3969, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3969", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|3969", "database": "", "url": "" }, { "id": "8EM7|B|3969", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3980", "end_pos": "3980", "site_lbl": "Asn3980", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ICEQNCTQLSNGGFICSCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3980, "start_aa": "Asn", "end_pos": 3980, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3980", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM7&bu=0&command=select+.A:3980;+center+selection;+zoom+selection" }, "start_pos": 3980, "start_aa": "Asn", "end_pos": 3980, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3980", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7|A|3980", "database": "", "url": "" }, { "id": "8EM7|B|3980", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4070", "end_pos": "4070", "site_lbl": "Asn4070", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KYNISSEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4070, "start_aa": "Asn", "end_pos": 4070, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4070", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:4070;+center+selection;+zoom+selection" }, "start_pos": 4070, "start_aa": "Asn", "end_pos": 4070, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4070", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|4070", "database": "", "url": "" }, { "id": "8EM4|B|4070", "database": "", "url": "" }, { "id": "8EM7|A|4070", "database": "", "url": "" }, { "id": "8EM7|B|4070", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4329", "end_pos": "4329", "site_lbl": "Asn4329", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YNQSVSNPCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4329, "start_aa": "Asn", "end_pos": 4329, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4329", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:4329;+center+selection;+zoom+selection" }, "start_pos": 4329, "start_aa": "Asn", "end_pos": 4329, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4329", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|4329", "database": "", "url": "" }, { "id": "8EM4|B|4329", "database": "", "url": "" }, { "id": "8EM7|A|4329", "database": "", "url": "" }, { "id": "8EM7|B|4329", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asn462", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:462;+center+selection;+zoom+selection" }, "start_pos": 462, "start_aa": "Asn", "end_pos": 462, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn462", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|462", "database": "", "url": "" }, { "id": "8EM4|B|462", "database": "", "url": "" }, { "id": "8EM7|A|462", "database": "", "url": "" }, { "id": "8EM7|B|462", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Asn657", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPNATNPCGNNNGGCAQICVLSHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:657;+center+selection;+zoom+selection" }, "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|657", "database": "", "url": "" }, { "id": "8EM4|B|657", "database": "", "url": "" }, { "id": "8EM7|A|657", "database": "", "url": "" }, { "id": "8EM7|B|657", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "865", "end_pos": "865", "site_lbl": "Asn865", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8EM4&bu=0&command=select+.A:865;+center+selection;+zoom+selection" }, "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "A2ARV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARV4#ptm_processing" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM4", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM4" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM7", "database": "PDB", "url": "https://www.rcsb.org/structure/8EM7" }, { "id": "8EM4|A|865", "database": "", "url": "" }, { "id": "8EM4|B|865", "database": "", "url": "" }, { "id": "8EM7|A|865", "database": "", "url": "" }, { "id": "8EM7|B|865", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4464", "end_pos": "4464", "site_lbl": "Ser4464", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4467", "end_pos": "4467", "site_lbl": "Ser4467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4577", "end_pos": "4577", "site_lbl": "Ser4577", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4624", "end_pos": "4624", "site_lbl": "Ser4624", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4637", "end_pos": "4637", "site_lbl": "Thr4637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4658", "end_pos": "4658", "site_lbl": "Ser4658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARV4", "url": "https://www.uniprot.org/uniprotkb/A2ARV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARV4" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "1035", "end_pos": "1035", "site_lbl": "Gly1035", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "2", "chr_pos": "69340771", "evidence": [ { "id": "rs3388559465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388559465" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "2951", "end_pos": "2951", "site_lbl": "Ser2951", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCY).", "chr_id": "2", "chr_pos": "69302876", "evidence": [ { "id": "rs3391717487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391717487" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3359", "end_pos": "3359", "site_lbl": "Thr3359", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->NKI).", "chr_id": "2", "chr_pos": "69296032", "evidence": [ { "id": "rs3388557202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557202" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3438", "end_pos": "3438", "site_lbl": "Tyr3438", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKY->NKC).", "chr_id": "2", "chr_pos": "69295004", "evidence": [ { "id": "rs3388559311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388559311" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3842", "end_pos": "3842", "site_lbl": "Thr3842", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "2", "chr_pos": "69284252", "evidence": [ { "id": "rs3388557141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557141" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "3854", "end_pos": "3854", "site_lbl": "His3854", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HVC->NVC).", "chr_id": "2", "chr_pos": "69284217", "evidence": [ { "id": "rs3388559067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388559067" } ] } ] }, { "uniprot_canonical_ac": "A2ARV4-1", "start_pos": "4072", "end_pos": "4072", "site_lbl": "Ser4072", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIY).", "chr_id": "2", "chr_pos": "69271716", "evidence": [ { "id": "rs3391736606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391736606" } ] } ] } ], "record_id": "A2ARV4-1" }, { "uniprot_canonical_ac": "D3YZP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 469, "chemical_mass": 52939.0, "gene_names": "Ccdc6;2810012H18Rik;Ccdc6", "protein_name": "Coiled-coil domain-containing protein 6", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asn176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLENDTISK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "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": "D3YZP9-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Thr342", "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": 342, "start_aa": "Thr", "end_pos": 342, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr342", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "D3YZP9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=D3YZP9" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "70018031", "evidence": [ { "id": "rs3389116317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389116317" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Thr457", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 457, "start_aa": "Thr", "end_pos": 457, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr457", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" }, { "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": "D3YZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" }, { "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": "D3YZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ser277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "D3YZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Ser406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" } ] } ] }, { "uniprot_canonical_ac": "D3YZP9-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3YZP9", "url": "https://www.uniprot.org/uniprotkb/D3YZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "D3YZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/D3YZP9" } ] } ] } ], "record_id": "D3YZP9-1" }, { "uniprot_canonical_ac": "P55088-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 323, "chemical_mass": 34436.0, "gene_names": "Aqp4;Aqp4;WCH4", "protein_name": "Aquaporin-4", "disease": [ { "disease_id": "DOID:0080122", "name": "Alpers-Huttenlocher syndrome", "description": "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080122", "evidence": [ { "id": "0080122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080122" } ], "weight": 0.0 }, { "disease_id": "DOID:0080315", "name": "megalencephalic leukoencephalopathy with subcortical cysts", "description": "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.", "url": "https://disease-ontology.org/term/DOID:0080315", "evidence": [ { "id": "0080315", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080315" } ], "weight": 0.0 }, { "disease_id": "DOID:0080743", "name": "transverse myelitis", "description": "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.", "url": "https://disease-ontology.org/term/DOID:0080743", "evidence": [ { "id": "0080743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080743" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "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 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "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:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cell projection membrane", "id": "GO:0031253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031253", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "astrocyte end-foot", "id": "GO:0097450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097450", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "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": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "intracellular water homeostasis", "id": "GO:0009992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009992", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion molecule production", "id": "GO:0060354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060354", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "carbon dioxide transport", "id": "GO:0015670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cerebrospinal fluid secretion", "id": "GO:0033326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033326", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "renal water absorption", "id": "GO:0070295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070295", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor production", "id": "GO:0010574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010574", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P55088-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Thr101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 101, "start_aa": "Thr", "end_pos": 101, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr101", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 137, "start_aa": "Thr", "end_pos": 137, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr137", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Asn153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "P55088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55088#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "P55088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55088#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSYMEVEDNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "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": "P55088-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "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": 322, "start_aa": "Ser", "end_pos": 322, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser322", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P55088", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P55088" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" }, { "database": "iPTMnet", "id": "P55088", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55088" }, { "database": "PubMed", "id": "18286643", "url": "https://glygen.org/publication/PubMed/18286643" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation by PKG (in vitro). No effect on location at cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" }, { "database": "PubMed", "id": "18286643", "url": "https://glygen.org/publication/PubMed/18286643" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ser285", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P55088", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55088" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Thr289", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P55088", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55088" } ] } ] }, { "uniprot_canonical_ac": "P55088-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55088", "url": "https://www.uniprot.org/uniprotkb/P55088" } ] } ] } ], "record_id": "P55088-1" }, { "uniprot_canonical_ac": "Q6F3F9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1165, "chemical_mass": 129721.0, "gene_names": "Adgrg6;1190004A11Rik;Adgrg6;DREG;Dreg;Gm222;Gpr126", "protein_name": "Adhesion G protein-coupled receptor G6", "disease": [ { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0060558", "name": "lethal congenital contracture syndrome", "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.", "url": "https://disease-ontology.org/term/DOID:0060558", "evidence": [ { "id": "0060558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060558" } ], "weight": 0.0 } ], "biological_process": [ { "name": "establishment of blood-brain barrier", "id": "GO:0060856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060856", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "Schwann cell differentiation", "id": "GO:0014037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014037", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "regulation of sprouting angiogenesis", "id": "GO:1903670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903670", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asn121", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 121, "start_aa": "Asn", "end_pos": 121, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn121", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KGFNASYIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "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" } ] }, { "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": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Asn314", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LWNFTMDLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 314, "start_aa": "Asn", "end_pos": 314, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn314", "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" } ] }, { "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": 314, "start_aa": "Asn", "end_pos": 314, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn314", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Asn324", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Asn353", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Asn410", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 410, "start_aa": "Asn", "end_pos": 410, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn410", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Asn424", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Asn458", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asn462", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 462, "start_aa": "Asn", "end_pos": 462, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn462", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Asn478", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LMTNNASLEDGLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "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" } ] }, { "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": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Asn536", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 536, "start_aa": "Asn", "end_pos": 536, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn536", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Asn549", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 549, "start_aa": "Asn", "end_pos": 549, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn549", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Asn563", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 563, "start_aa": "Asn", "end_pos": 563, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn563", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Asn570", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 570, "start_aa": "Asn", "end_pos": 570, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn570", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Asn665", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Asn674", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 674, "start_aa": "Asn", "end_pos": 674, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn674", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Asn720", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AQFTFFNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 720, "start_aa": "Asn", "end_pos": 720, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn720", "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" } ] }, { "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": 720, "start_aa": "Asn", "end_pos": 720, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn720", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Asn746", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 746, "start_aa": "Asn", "end_pos": 746, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn746", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Asn781", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 781, "start_aa": "Asn", "end_pos": 781, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn781", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Asn788", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 788, "start_aa": "Asn", "end_pos": 788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn788", "evidence": [ { "id": "Q6F3F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Ser822", "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": 822, "start_aa": "Ser", "end_pos": 822, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser822", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q6F3F9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6F3F9" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "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": 824, "start_aa": "Ser", "end_pos": 824, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser824", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q6F3F9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6F3F9" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Ser1135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6F3F9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6F3F9" } ] } ] }, { "uniprot_canonical_ac": "Q6F3F9-1", "start_pos": "1138", "end_pos": "1138", "site_lbl": "Ser1138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6F3F9", "url": "https://www.uniprot.org/uniprotkb/Q6F3F9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6F3F9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6F3F9" } ] } ] } ], "record_id": "Q6F3F9-1" }, { "uniprot_canonical_ac": "P30561-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 848, "chemical_mass": 95017.0, "gene_names": "Ahr;Ahh;Ahre;Ahr;Ah;In;bHLHe76", "protein_name": "Aryl hydrocarbon receptor", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0112142", "name": "retinitis pigmentosa 85", "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.", "url": "https://disease-ontology.org/term/DOID:0112142", "evidence": [ { "id": "0112142", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112142" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "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: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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.", "url": "https://disease-ontology.org/term/DOID:9649", "evidence": [ { "id": "9649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ], "weight": 0.0 } ], "biological_process": [ { "name": "omega-hydroxylase P450 pathway", "id": "GO:0097267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097267", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "contact inhibition", "id": "GO:0060242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060242", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of heart growth", "id": "GO:0060420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060420", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "lymphocyte homeostasis", "id": "GO:0002260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002260", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "reactive oxygen species biosynthetic process", "id": "GO:1903409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903409", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of eating behavior", "id": "GO:1903998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903998", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "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": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "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": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "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": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "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": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "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": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "B-1 B cell homeostasis", "id": "GO:0001922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001922", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "conditioned taste aversion", "id": "GO:0001661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001661", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of DNA biosynthetic process", "id": "GO:2000279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000279", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of B cell proliferation", "id": "GO:0030888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030888", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "positive regulation of growth rate", "id": "GO:0040010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040010", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of osteoblast proliferation", "id": "GO:0033689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033689", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of calcium ion transmembrane transport", "id": "GO:1903170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903170", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "glomerulus morphogenesis", "id": "GO:0072102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072102", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "intestinal epithelial structure maintenance", "id": "GO:0060729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060729", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "regulation of adaptive immune response", "id": "GO:0002819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002819", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "positive regulation of RNA polymerase II transcription preinitiation complex assembly", "id": "GO:0045899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045899", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "mammary duct terminal end bud growth", "id": "GO:0060763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060763", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to molecule of bacterial origin", "id": "GO:0071219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071219", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "gland development", "id": "GO:0048732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048732", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "circumferential growth involved in left ventricle morphogenesis", "id": "GO:0003243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003243", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "post-embryonic hemopoiesis", "id": "GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to 3-methylcholanthrene", "id": "GO:1904682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904682", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cellular response to 2,3,7,8-tetrachlorodibenzodioxine", "id": "GO:1904613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904613", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "positive regulation of mating-type specific transcription, DNA-templated", "id": "GO:0045895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045895", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor binding", "id": "GO:0017162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017162", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "TFIID-class transcription factor complex binding", "id": "GO:0001094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001094", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "arachidonate omega-hydroxylase activity", "id": "GO:0052869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052869", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor complex", "id": "GO:0034751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034751", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "cytosolic aryl hydrocarbon receptor complex", "id": "GO:0034752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034752", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "nuclear aryl hydrocarbon receptor complex", "id": "GO:0034753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034753", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P30561-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Thr439", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 439, "start_aa": "Thr", "end_pos": 439, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr439", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Thr659", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 659, "start_aa": "Thr", "end_pos": 659, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr659", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Glu112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces transcription activity. Decreases interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Phe115", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Highly disrupts the dimerization ability of AHR.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] }, { "sequence_org": "F", "sequence_mut": "D", "comment": "Highly disrupts the dimerization ability of AHR. Reduces the AHR transcription factor activity induction by 50%.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Leu116", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Highly disrupts the dimerization ability of AHR. Reduces transcription activity. Decreases interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ala119", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Highly disrupts the dimerization ability of AHR. Reduces transcription activity. Impairs interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Leu120", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Significantly reduces binding affinities of the AHR?ARNT heterodimer to DRE.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] }, { "sequence_org": "L", "sequence_mut": "E", "comment": "Highly disrupts the dimerization ability of AHR. Reduces transcription activity. Impairs interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Val124", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Highly disrupts the dimerization ability of AHR. Reduces transcription activity. Impairs interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Phe134", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Reduces the AHR induction activity by ~50%. Translocates to the nucleus at a high level.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ile152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Completely abolished the AHR induction activity, the ligand-induced nuclear translocation of AHR, and drastically reduced DRE-binding in vitro.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Lys238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Significantly reduces binding affinities of the AHR:ARNT heterodimer to DRE.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Leu240", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Significantly reduces binding affinities of the AHR:ARNT heterodimer to DRE.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Phe260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Reduces transcription activity. Impairs interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ile262", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Reduces transcription activity. Decreases interaction with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Arg39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "D", "comment": "Drastically reduces the binding affinity of AHR?ARNT to dioxin response element (DRE). Impairs ligand-induced nuclear translocation of AHR.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Leu42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Significantly reduces binding affinities of the AHR?ARNT heterodimer to DRE.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Asn43", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduces the binding affinity of AHR?ARNT to the DRE by more than 10-fold.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Leu49", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Reduces the AHR induction transcription activity by 50%. Increases ligand-induced nuclear translocation of AHR.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Lys65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces the binding affinity of AHR?ARNT to the DRE by more than 10-fold.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] }, { "uniprot_canonical_ac": "P30561-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Arg70", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "D", "comment": "Drastically reduces the AHR transcription activity induction. Increases constitutive AHR nuclear translocation in the absence of ligands. Reduces binding affinity for the DRE by more than 30-fold in vitro.", "evidence": [ { "database": "UniProtKB", "id": "P30561", "url": "https://www.uniprot.org/uniprotkb/P30561" }, { "database": "PubMed", "id": "28396409", "url": "https://glygen.org/publication/PubMed/28396409" } ] } ] } ], "record_id": "P30561-1" }, { "uniprot_canonical_ac": "Q6PB70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1060, "chemical_mass": 119101.0, "gene_names": "Ano8;Ano8;Kiaa1623;Tmem16h", "protein_name": "Anoctamin-8", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" } ], "pmid": "" } ], "molecular_function": [ { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PB70-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Asn708", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 708, "start_aa": "Asn", "end_pos": 708, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn708", "evidence": [ { "id": "Q6PB70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6PB70#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6PB70-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PB70", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PB70" } ] } ] }, { "uniprot_canonical_ac": "Q6PB70-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PB70", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PB70" } ] } ] }, { "uniprot_canonical_ac": "Q6PB70-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Ser796", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PB70", "url": "https://www.uniprot.org/uniprotkb/Q6PB70" } ] } ] }, { "uniprot_canonical_ac": "Q6PB70-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "8", "chr_pos": "71937145", "evidence": [ { "id": "rs3388941606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388941606" } ] } ] } ], "record_id": "Q6PB70-1" }, { "uniprot_canonical_ac": "A2AH22-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1300, "chemical_mass": 142879.0, "gene_names": "Ambra1;2310079H06Rik;A130023A14;Ambra1;D030051N19Rik;Kiaa1736;mKIAA1736", "protein_name": "Activating molecule in BECN1-regulated autophagy protein 1", "disease": [ { "disease_id": "DOID:4752", "name": "multiple system atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:4752", "evidence": [ { "id": "4752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4752" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "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": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "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": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "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": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "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": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "response to mitochondrial depolarisation", "id": "GO:0098780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098780", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "positive regulation of free ubiquitin chain polymerization", "id": "GO:1904544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904544", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "positive regulation of regulatory T cell differentiation", "id": "GO:0045591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045591", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "Cul4-RING E3 ubiquitin ligase complex", "id": "GO:0080008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080008", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" }, { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "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": 334, "start_aa": "Ser", "end_pos": 334, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser334", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2AH22", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AH22" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2AH22", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Thr441", "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": 441, "start_aa": "Thr", "end_pos": 441, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr441", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2AH22", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AH22" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "A2AH22", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AH22" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "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": 442, "start_aa": "Ser", "end_pos": 442, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser442", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2AH22", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AH22" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "A2AH22", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AH22" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Ser1044", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "1206", "end_pos": "1206", "site_lbl": "Ser1206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ser636", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Ser640", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Lys2", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ubiquitination by RNF2.", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" }, { "database": "PubMed", "id": "24980959", "url": "https://glygen.org/publication/PubMed/24980959" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Lys36", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ubiquitination by RNF2.", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" }, { "database": "PubMed", "id": "24980959", "url": "https://glygen.org/publication/PubMed/24980959" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Lys41", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ubiquitination by RNF2.", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" }, { "database": "PubMed", "id": "24980959", "url": "https://glygen.org/publication/PubMed/24980959" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by RNF2.", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" }, { "database": "PubMed", "id": "24980959", "url": "https://glygen.org/publication/PubMed/24980959" } ] } ] }, { "uniprot_canonical_ac": "A2AH22-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Lys7", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ubiquitination by RNF2.", "evidence": [ { "database": "UniProtKB", "id": "A2AH22", "url": "https://www.uniprot.org/uniprotkb/A2AH22" }, { "database": "PubMed", "id": "24980959", "url": "https://glygen.org/publication/PubMed/24980959" } ] } ] } ], "record_id": "A2AH22-1" }, { "uniprot_canonical_ac": "A2AHL1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 981, "chemical_mass": 114568.0, "gene_names": "Ano3;Ano3;B230324K02Rik;Tmem16c", "protein_name": "Anoctamin-3", "disease": [ { "disease_id": "DOID:0090052", "name": "dystonia 24", "description": "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0090052", "evidence": [ { "id": "0090052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090052" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" } ], "biological_process": [ { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "calcium activated phosphatidylcholine scrambling", "id": "GO:0061590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061590", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "calcium activated galactosylceramide scrambling", "id": "GO:0061591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061591", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "detection of temperature stimulus", "id": "GO:0016048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016048", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" }, { "name": "detection of mechanical stimulus", "id": "GO:0050982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050982", "evidence": [ { "database": "UniProtKB", "id": "A2AHL1", "url": "https://www.uniprot.org/uniprotkb/A2AHL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AHL1-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Asn425", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 425, "start_aa": "Asn", "end_pos": 425, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn425", "evidence": [ { "id": "A2AHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AHL1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AHL1-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Asn448", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ATEVFMCPLCDKNCSLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 448, "start_aa": "Asn", "end_pos": 448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn448", "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" } ] }, { "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": 448, "start_aa": "Asn", "end_pos": 448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn448", "evidence": [ { "id": "A2AHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AHL1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AHL1-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Asn455", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNDSCIYAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 455, "start_aa": "Asn", "end_pos": 455, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn455", "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" } ] }, { "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": 455, "start_aa": "Asn", "end_pos": 455, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn455", "evidence": [ { "id": "A2AHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AHL1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AHL1-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Asn866", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 866, "start_aa": "Asn", "end_pos": 866, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn866", "evidence": [ { "id": "A2AHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AHL1#ptm_processing" } ] } ] } ], "record_id": "A2AHL1-1" }, { "uniprot_canonical_ac": "A2ARS0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARS0", "url": "https://www.uniprot.org/uniprotkb/A2ARS0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 390, "chemical_mass": 41068.0, "gene_names": "Ankrd63;Ankrd63;Gm1337", "protein_name": "Ankyrin repeat domain-containing protein 63", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2ARS0-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARS0", "url": "https://www.uniprot.org/uniprotkb/A2ARS0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARS0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARS0" } ] } ] }, { "uniprot_canonical_ac": "A2ARS0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARS0", "url": "https://www.uniprot.org/uniprotkb/A2ARS0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2ARS0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2ARS0" } ] } ] } ], "record_id": "A2ARS0-1" }, { "uniprot_canonical_ac": "A2BH40-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2283, "chemical_mass": 242092.0, "gene_names": "Arid1a;1110030E03Rik;Arid1a;BAF250a;BAF250;Baf250a;Baf250;Osa1;Smarcf1", "protein_name": "AT-rich interactive domain-containing protein 1A", "disease": [ { "disease_id": "DOID:0050934", "name": "ovarian clear cell carcinoma", "description": "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.", "url": "https://disease-ontology.org/term/DOID:0050934", "evidence": [ { "id": "0050934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050934" } ], "weight": 0.0 }, { "disease_id": "DOID:0070042", "name": "Coffin-Siris syndrome 1", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.", "url": "https://disease-ontology.org/term/DOID:0070042", "evidence": [ { "id": "0070042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070042" } ], "weight": 0.0 }, { "disease_id": "DOID:0070044", "name": "Coffin-Siris syndrome 2", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.", "url": "https://disease-ontology.org/term/DOID:0070044", "evidence": [ { "id": "0070044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070044" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.", "url": "https://disease-ontology.org/term/DOID:1925", "evidence": [ { "id": "1925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1925" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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: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: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:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "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": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "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": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "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": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "formation of primary germ layer", "id": "GO:0001704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001704", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "cardiac chamber development", "id": "GO:0003205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003205", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "optic cup formation involved in camera-type eye development", "id": "GO:0003408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003408", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "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": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1217", "end_pos": "1217", "site_lbl": "Asn1217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RNSMTPNPGYQPSMNTSDMMGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "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": "A2BH40-1", "start_pos": "1349", "end_pos": "1349", "site_lbl": "Thr1349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1349, "start_aa": "Thr", "end_pos": 1349, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1349", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "4", "chr_pos": "133413598", "evidence": [ { "id": "rs247280019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247280019" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1598", "end_pos": "1598", "site_lbl": "Asn1598", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1598, "start_aa": "Asn", "end_pos": 1598, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1598", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2144", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2144" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Thr1629", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1629, "start_aa": "Thr", "end_pos": 1629, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1629", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1874", "end_pos": "1874", "site_lbl": "Thr1874", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1874, "start_aa": "Thr", "end_pos": 1874, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1874", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Thr239", "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": 239, "start_aa": "Thr", "end_pos": 239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr239", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 239, "start_aa": "Thr", "end_pos": 239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr239", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "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": 242, "start_aa": "Ser", "end_pos": 242, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser242", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "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": 250, "start_aa": "Ser", "end_pos": 250, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser250", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "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": 255, "start_aa": "Ser", "end_pos": 255, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser255", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "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": 256, "start_aa": "Ser", "end_pos": 256, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser256", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "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": 257, "start_aa": "Ser", "end_pos": 257, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser257", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "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": 259, "start_aa": "Ser", "end_pos": 259, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser259", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "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": 262, "start_aa": "Ser", "end_pos": 262, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser262", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "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": 264, "start_aa": "Ser", "end_pos": 264, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser264", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "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": 265, "start_aa": "Ser", "end_pos": 265, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser265", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "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": 697, "start_aa": "Ser", "end_pos": 697, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser697", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "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": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "4", "chr_pos": "133423301", "evidence": [ { "id": "rs3388706038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388706038" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "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": 706, "start_aa": "Ser", "end_pos": 706, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser706", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "4", "chr_pos": "133423274", "evidence": [ { "id": "rs3388725058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725058" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "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": 710, "start_aa": "Ser", "end_pos": 710, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser710", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Thr764", "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": 764, "start_aa": "Thr", "end_pos": 764, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr764", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "A2BH40", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2BH40" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "A2BH40", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1185", "end_pos": "1185", "site_lbl": "Ser1185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1236", "end_pos": "1236", "site_lbl": "Ser1236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1605", "end_pos": "1605", "site_lbl": "Ser1605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1886", "end_pos": "1886", "site_lbl": "Thr1886", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1927", "end_pos": "1927", "site_lbl": "Ser1927", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "1942", "end_pos": "1942", "site_lbl": "Ser1942", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Ser699", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ser703", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ser731", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ser765", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "773", "end_pos": "773", "site_lbl": "Ser773", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2BH40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2BH40" } ] } ] }, { "uniprot_canonical_ac": "A2BH40-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprotkb/A2BH40" } ] } ] } ], "record_id": "A2BH40-1" }, { "uniprot_canonical_ac": "Q9WV76-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 738, "chemical_mass": 82976.0, "gene_names": "Ap4b1;1810038H16Rik;Ap4b1;Ap4b4;Gm43064", "protein_name": "AP-4 complex subunit beta-1", "disease": [ { "disease_id": "DOID:0110799", "name": "hereditary spastic paraplegia 47", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0110799", "evidence": [ { "id": "0110799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110799" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to somatodendritic compartment", "id": "GO:0061938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061938", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "clathrin adaptor complex", "id": "GO:0030131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "AP-4 adaptor complex", "id": "GO:0030124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030124", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "cytoplasmic side of trans-Golgi network transport vesicle membrane", "id": "GO:0098541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098541", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" } ], "molecular_function": [ { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q9WV76", "url": "https://www.uniprot.org/uniprotkb/Q9WV76" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WV76-1" }, { "uniprot_canonical_ac": "Q3U5C8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 713, "chemical_mass": 80381.0, "gene_names": "Arhgef16;Arhgef16", "protein_name": "Rho guanine nucleotide exchange factor 16", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "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": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U5C8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U5C8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Thr230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U5C8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U5C8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U5C8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ] } ] }, { "uniprot_canonical_ac": "Q3U5C8-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C8", "url": "https://www.uniprot.org/uniprotkb/Q3U5C8" } ] } ] } ], "record_id": "Q3U5C8-1" }, { "uniprot_canonical_ac": "B1AXD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 201, "chemical_mass": 22113.0, "gene_names": "Akirin2;2700059D21Rik;Akirin-2;Akirin2", "protein_name": "Akirin-2", "disease": [ { "disease_id": "DOID:0050340", "name": "opportunistic bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.", "url": "https://disease-ontology.org/term/DOID:0050340", "evidence": [ { "id": "0050340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050340" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "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": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "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": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "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": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "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": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "nuclear protein quality control by the ubiquitin-proteasome system", "id": "GO:0071630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071630", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "positive regulation of endopeptidase activity", "id": "GO:0010950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010950", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "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": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "regulation of muscle cell differentiation", "id": "GO:0051147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051147", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "proteasome localization", "id": "GO:0031144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031144", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AXD8-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" }, { "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": "B1AXD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AXD8" } ] } ] }, { "uniprot_canonical_ac": "B1AXD8-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" }, { "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": "B1AXD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AXD8" } ] } ] }, { "uniprot_canonical_ac": "B1AXD8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AXD8", "url": "https://www.uniprot.org/uniprotkb/B1AXD8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B1AXD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B1AXD8" } ] } ] } ], "record_id": "B1AXD8-1" }, { "uniprot_canonical_ac": "Q8CG79-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1128, "chemical_mass": 125301.0, "gene_names": "Tp53bp2;Trp53bp2;53BP2;ASPP2;Aspp2;PPP1R13A;Tp53bp2;Trp53bp2", "protein_name": "Apoptosis-stimulating of p53 protein 2", "disease": [ { "disease_id": "DOID:0060412", "name": "chromosome 1q41-q42 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.", "url": "https://disease-ontology.org/term/DOID:0060412", "evidence": [ { "id": "0060412", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060412" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "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": 185, "start_aa": "Ser", "end_pos": 185, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser185", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8CG79", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CG79" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8CG79", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "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": 328, "start_aa": "Ser", "end_pos": 328, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser328", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8CG79", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CG79" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8CG79", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ser339", "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": 339, "start_aa": "Ser", "end_pos": 339, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser339", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8CG79", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CG79" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q8CG79", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CG79" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Asn711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQSDADLEALR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 711, "start_aa": "Asn", "end_pos": 711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn711", "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": "Q8CG79-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CG79", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Ser555", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ser571", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Ser575", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8CG79", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Ser713", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8CG79", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CG79" } ] } ] }, { "uniprot_canonical_ac": "Q8CG79-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG79", "url": "https://www.uniprot.org/uniprotkb/Q8CG79" } ] } ] } ], "record_id": "Q8CG79-1" }, { "uniprot_canonical_ac": "P55302-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 360, "chemical_mass": 42215.0, "gene_names": "Lrpap1;HBP44;Lrpap1;RAP", "protein_name": "Alpha-2-macroglobulin receptor-associated protein", "disease": [ { "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:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "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 } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum lumen", "id": "GO:0048237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048237", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "negative regulation of very-low-density lipoprotein particle clearance", "id": "GO:0010916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010916", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "regulation of receptor-mediated endocytosis", "id": "GO:0048259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048259", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta clearance", "id": "GO:1900222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900222", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "amyloid-beta clearance by transcytosis", "id": "GO:0150093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150093", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "receptor antagonist activity", "id": "GO:0048019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048019", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "lipase binding", "id": "GO:0035473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035473", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor binding", "id": "GO:0070326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070326", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P55302-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "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": 269, "start_aa": "Ser", "end_pos": 269, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser269", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "P55302", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P55302" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P55302", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P55302" } ] } ] }, { "uniprot_canonical_ac": "P55302-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Asn271", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2121", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2121" } ] }, { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VIDLWDLAQSANFTEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "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" } ] }, { "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": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "evidence": [ { "id": "P55302", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P55302#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P55302-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P55302", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P55302" } ] } ] }, { "uniprot_canonical_ac": "P55302-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55302", "url": "https://www.uniprot.org/uniprotkb/P55302" } ] } ] } ], "record_id": "P55302-1" }, { "uniprot_canonical_ac": "Q80UP5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 588, "chemical_mass": 67177.0, "gene_names": "Ankrd13a;1100001D10Rik;ANKRD13;Ankrd13a;Ankrd13", "protein_name": "Ankyrin repeat domain-containing protein 13A", "disease": [], "molecular_function": [ { "name": "ubiquitin-modified protein reader activity", "id": "GO:0140036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140036", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "regulation of receptor-mediated endocytosis", "id": "GO:0048259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048259", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" }, { "name": "negative regulation of protein localization to endosome", "id": "GO:1905667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905667", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80UP5-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Thr443", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 443, "start_aa": "Thr", "end_pos": 443, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr443", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80UP5-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q80UP5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80UP5" } ] } ] }, { "uniprot_canonical_ac": "Q80UP5-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Ser584", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UP5", "url": "https://www.uniprot.org/uniprotkb/Q80UP5" } ] } ] } ], "record_id": "Q80UP5-1" }, { "uniprot_canonical_ac": "P62331-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 175, "chemical_mass": 20082.0, "gene_names": "Arf6;Arf6", "protein_name": "ADP-ribosylation factor 6", "disease": [ { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "Flemming body", "id": "GO:0090543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090543", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of mitotic cytokinetic process", "id": "GO:1903438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903438", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "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": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "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": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "protein localization to endosome", "id": "GO:0036010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036010", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "negative regulation of protein localization to cell surface", "id": "GO:2000009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000009", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "myeloid cell apoptotic process", "id": "GO:0033028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033028", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of Rac protein signal transduction", "id": "GO:0035020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035020", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "establishment of epithelial cell polarity", "id": "GO:0090162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090162", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034143", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "maintenance of postsynaptic density structure", "id": "GO:0099562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099562", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion disassembly", "id": "GO:0120183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120183", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "protein localization to cleavage furrow", "id": "GO:1905345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905345", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "thioesterase binding", "id": "GO:0031996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031996", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62331-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Loss of activity; delays formation of epithelial polarity.", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" }, { "database": "PubMed", "id": "22522702", "url": "https://glygen.org/publication/PubMed/22522702" }, { "database": "PubMed", "id": "20080746", "url": "https://glygen.org/publication/PubMed/20080746" } ] } ] }, { "uniprot_canonical_ac": "P62331-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Inactive GDP-bound form which does not bind TJAP1.", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" }, { "database": "PubMed", "id": "22841714", "url": "https://glygen.org/publication/PubMed/22841714" } ] } ] }, { "uniprot_canonical_ac": "P62331-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Gln67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Probable constitutively active mutant that prevents EHD1 localization to endosome membranes. No effect on interaction with TJAP1.", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" }, { "database": "PubMed", "id": "22522702", "url": "https://glygen.org/publication/PubMed/22522702" }, { "database": "PubMed", "id": "23572513", "url": "https://glygen.org/publication/PubMed/23572513" }, { "database": "PubMed", "id": "22841714", "url": "https://glygen.org/publication/PubMed/22841714" } ] } ] }, { "uniprot_canonical_ac": "P62331-1", "start_pos": "76", "end_pos": "76", "site_lbl": "His76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Slightly impaired interaction with KIF23. Abolishes interaction with GGA1, SPAG9 and RAB11FIP4.", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" }, { "database": "PubMed", "id": "22522702", "url": "https://glygen.org/publication/PubMed/22522702" } ] } ] }, { "uniprot_canonical_ac": "P62331-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Tyr77", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with KIF23, GGA1, SPAG9 and RAB11FIP4.", "evidence": [ { "database": "UniProtKB", "id": "P62331", "url": "https://www.uniprot.org/uniprotkb/P62331" }, { "database": "PubMed", "id": "22522702", "url": "https://glygen.org/publication/PubMed/22522702" } ] } ] } ], "record_id": "P62331-1" }, { "uniprot_canonical_ac": "Q02013-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 269, "chemical_mass": 28793.0, "gene_names": "Aqp1;Aqp1;CHIP28", "protein_name": "Aquaporin-1", "disease": [ { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "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 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9428", "name": "intracranial hypertension", "description": "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.", "url": "https://disease-ontology.org/term/DOID:9428", "evidence": [ { "id": "9428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9428" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "dense core granule membrane", "id": "GO:0032127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032127", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "ankyrin-1 complex", "id": "GO:0170014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170014", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular homeostasis", "id": "GO:0019725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019725", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "secretion by cell", "id": "GO:0032940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032940", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "intracellular water homeostasis", "id": "GO:0009992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009992", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "pancreatic juice secretion", "id": "GO:0030157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030157", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "renal water transport", "id": "GO:0003097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003097", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "carbon dioxide transport", "id": "GO:0015670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "glycerol transmembrane transport", "id": "GO:0015793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015793", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to mercury ion", "id": "GO:0071288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071288", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular hyperosmotic response", "id": "GO:0071474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071474", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "nitric oxide transport", "id": "GO:0030185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030185", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "establishment or maintenance of actin cytoskeleton polarity", "id": "GO:0030950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030950", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cerebrospinal fluid secretion", "id": "GO:0033326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033326", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "secretory granule organization", "id": "GO:0033363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033363", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "transepithelial water transport", "id": "GO:0035377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035377", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "carbon dioxide transmembrane transport", "id": "GO:0035378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035378", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "lipid digestion", "id": "GO:0044241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044241", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "positive regulation of saliva secretion", "id": "GO:0046878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046878", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "corticotropin secretion", "id": "GO:0051458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051458", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "renal water absorption", "id": "GO:0070295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070295", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "cellular response to salt stress", "id": "GO:0071472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071472", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "metanephric descending thin limb development", "id": "GO:0072220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072220", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "metanephric proximal straight tubule development", "id": "GO:0072230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072230", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "metanephric proximal convoluted tubule segment 2 development", "id": "GO:0072232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072232", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "metanephric glomerulus vasculature development", "id": "GO:0072239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072239", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "ammonium transmembrane transport", "id": "GO:0072488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072488", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "hyperosmotic response", "id": "GO:0006972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006972", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "water transmembrane transporter activity", "id": "GO:0005372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005372", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "glycerol transmembrane transporter activity", "id": "GO:0015168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015168", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "intracellularly cGMP-activated cation channel activity", "id": "GO:0005223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005223", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "ammonium channel activity", "id": "GO:0008519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008519", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "potassium ion transmembrane transporter activity", "id": "GO:0015079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015079", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "nitric oxide transmembrane transporter activity", "id": "GO:0030184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030184", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "carbon dioxide transmembrane transporter activity", "id": "GO:0035379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035379", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" }, { "name": "hydrogen peroxide channel activity", "id": "GO:0140070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140070", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02013-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asn205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "evidence": [ { "id": "Q02013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02013#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q02013-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQTLVQDNVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "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": "Q02013-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02013", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02013" } ] } ] }, { "uniprot_canonical_ac": "Q02013-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q02013", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02013" } ] } ] }, { "uniprot_canonical_ac": "Q02013-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02013", "url": "https://www.uniprot.org/uniprotkb/Q02013" }, { "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": "Q02013", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02013" } ] } ] } ], "record_id": "Q02013-1" }, { "uniprot_canonical_ac": "Q5FWH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 849, "chemical_mass": 92946.0, "gene_names": "Arhgef15;Arhgef15;D130071N09;D530030K12Rik;E5;Kiaa0915", "protein_name": "Rho guanine nucleotide exchange factor 15", "disease": [ { "disease_id": "DOID:0061235", "name": "brain small vessel disease 5 with osteoporosis", "description": "A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0061235", "evidence": [ { "id": "0061235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061235" } ], "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": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "retina vasculature morphogenesis in camera-type eye", "id": "GO:0061299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061299", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "negative regulation of synapse maturation", "id": "GO:2000297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000297", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Thr136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 136, "start_aa": "Thr", "end_pos": 136, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr136", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Thr749", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 749, "start_aa": "Thr", "end_pos": 749, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr749", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Thr776", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 776, "start_aa": "Thr", "end_pos": 776, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr776", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Thr843", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 843, "start_aa": "Thr", "end_pos": 843, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr843", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Thr97", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 97, "start_aa": "Thr", "end_pos": 97, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr97", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5FWH6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FWH6" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5FWH6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FWH6" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Tyr361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "iPTMnet", "id": "Q5FWH6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FWH6" }, { "database": "PubMed", "id": "21029865", "url": "https://glygen.org/publication/PubMed/21029865" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes phosphorylation by EPHB2.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "PubMed", "id": "21029865", "url": "https://glygen.org/publication/PubMed/21029865" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Arg538", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVC).", "chr_id": "11", "chr_pos": "68840913", "evidence": [ { "id": "rs3389180282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180282" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Val368", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Mutant mice show features of cerebral small vessel disease including cerebral microinfarction, disruption of the blood-brain barrier, abnormal walls of cerebral small vessels, and behavioral abnormalities. Mutant mice have lower trabecular bone density.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "PubMed", "id": "36929019", "url": "https://glygen.org/publication/PubMed/36929019" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH6-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Leu562", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impairs RHOA activation; when associated with 566-A-A-567.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH6", "url": "https://www.uniprot.org/uniprotkb/Q5FWH6" }, { "database": "PubMed", "id": "21029865", "url": "https://glygen.org/publication/PubMed/21029865" } ] } ] } ], "record_id": "Q5FWH6-1" }, { "uniprot_canonical_ac": "Q61176-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 323, "chemical_mass": 34808.0, "gene_names": "Arg1;AI;Arg-1;Arg1;PGIF", "protein_name": "Arginase-1", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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:9278", "name": "hyperargininemia", "description": "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.", "url": "https://disease-ontology.org/term/DOID:9278", "evidence": [ { "id": "9278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9278" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" } ], "molecular_function": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "arginase activity", "id": "GO:0004053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004053", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "negative regulation of type II interferon-mediated signaling pathway", "id": "GO:0060336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060336", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "positive regulation of neutrophil mediated killing of fungus", "id": "GO:0070965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070965", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell cytokine production", "id": "GO:2000552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000552", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" }, { "name": "regulation of L-arginine import across plasma membrane", "id": "GO:1905541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905541", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61176-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61176", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61176" } ] } ] }, { "uniprot_canonical_ac": "Q61176-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ] } ] }, { "uniprot_canonical_ac": "Q61176-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Thr281", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" }, { "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": "Q61176", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61176" } ] } ] }, { "uniprot_canonical_ac": "Q61176-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" } ] } ] }, { "uniprot_canonical_ac": "Q61176-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q61176", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61176" } ] } ] }, { "uniprot_canonical_ac": "Q61176-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprotkb/Q61176" }, { "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": "Q61176", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61176" } ] } ] } ], "record_id": "Q61176-1" }, { "uniprot_canonical_ac": "Q80VK6-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VK6", "url": "https://www.uniprot.org/uniprotkb/Q80VK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 770, "chemical_mass": 87679.0, "gene_names": "Arhgef38;9130221D24Rik;Arhgef38;D630013G24Rik", "protein_name": "Rho guanine nucleotide exchange factor 38", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80VK6", "url": "https://www.uniprot.org/uniprotkb/Q80VK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q80VK6", "url": "https://www.uniprot.org/uniprotkb/Q80VK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80VK6-3", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VK6-3", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VK6", "url": "https://www.uniprot.org/uniprotkb/Q80VK6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80VK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80VK6" } ] } ] } ], "record_id": "Q80VK6-3" }, { "uniprot_canonical_ac": "Q8R5G7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1538, "chemical_mass": 169741.0, "gene_names": "Arap3;Arap3;Centd3;Drag1;E030006K04Rik;Kiaa4097;cnt-d3", "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "negative regulation of Rho protein signal transduction", "id": "GO:0035024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035024", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" }, { "name": "negative regulation of Rac protein signal transduction", "id": "GO:0035021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035021", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1518", "end_pos": "1518", "site_lbl": "Thr1518", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1518, "start_aa": "Thr", "end_pos": 1518, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1518", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Thr", "end_pos": 185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr185", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Thr82", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 82, "start_aa": "Thr", "end_pos": 82, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr82", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1344", "end_pos": "1344", "site_lbl": "Thr1344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R5G7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5G7" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1399", "end_pos": "1399", "site_lbl": "Tyr1399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "15546919", "url": "https://glygen.org/publication/PubMed/15546919" }, { "database": "iPTMnet", "id": "Q8R5G7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5G7" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduces phosphorylation by CSK; when associated with F-1404.", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "15546919", "url": "https://glygen.org/publication/PubMed/15546919" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Tyr1404", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "15546919", "url": "https://glygen.org/publication/PubMed/15546919" }, { "database": "iPTMnet", "id": "Q8R5G7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R5G7" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduces phosphorylation by CSK; when associated with F-1399.", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "15546919", "url": "https://glygen.org/publication/PubMed/15546919" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1438", "end_pos": "1438", "site_lbl": "Ser1438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "1474", "end_pos": "1474", "site_lbl": "Ser1474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" } ] } ] }, { "uniprot_canonical_ac": "Q8R5G7-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Arg938", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Loss of Rho GAP activity. Enhances cell spreading.", "evidence": [ { "database": "UniProtKB", "id": "Q8R5G7", "url": "https://www.uniprot.org/uniprotkb/Q8R5G7" }, { "database": "PubMed", "id": "15546919", "url": "https://glygen.org/publication/PubMed/15546919" } ] } ] } ], "record_id": "Q8R5G7-1" }, { "uniprot_canonical_ac": "Q9D0J4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 184, "chemical_mass": 20864.0, "gene_names": "Arl2;2610009M23Rik;Arl2", "protein_name": "ADP-ribosylation factor-like protein 2", "disease": [], "biological_process": [ { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "maintenance of protein location in nucleus", "id": "GO:0051457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051457", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D0J4-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D0J4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0J4" } ] } ] }, { "uniprot_canonical_ac": "Q9D0J4-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Thr30", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "L", "comment": "Reduces affinity to GTP and GDP. Inhibits interaction with PDE6D.", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" }, { "database": "PubMed", "id": "15979089", "url": "https://glygen.org/publication/PubMed/15979089" } ] } ] }, { "uniprot_canonical_ac": "Q9D0J4-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Gln70", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Does not reduce affinity fo GTP and GDP. Enhances interaction with PDE6D.", "evidence": [ { "database": "UniProtKB", "id": "Q9D0J4", "url": "https://www.uniprot.org/uniprotkb/Q9D0J4" }, { "database": "PubMed", "id": "15979089", "url": "https://glygen.org/publication/PubMed/15979089" } ] } ] } ], "record_id": "Q9D0J4-1" }, { "uniprot_canonical_ac": "Q9WTY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 265, "chemical_mass": 28274.0, "gene_names": "Aqp5;Aqp5", "protein_name": "Aquaporin-5", "disease": [ { "disease_id": "DOID:0111707", "name": "Bothnian type palmoplantar keratoderma", "description": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0111707", "evidence": [ { "id": "0111707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111707" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular hypotonic response", "id": "GO:0071476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071476", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "saliva secretion", "id": "GO:0046541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046541", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "pancreatic juice secretion", "id": "GO:0030157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030157", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "carbon dioxide transport", "id": "GO:0015670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY4", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTY4-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Asn124", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "Q9WTY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTY4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTY4-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9WTY4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTY4" }, { "database": "PubMed", "id": "29751100", "url": "https://glygen.org/publication/PubMed/29751100" } ] } ] }, { "uniprot_canonical_ac": "Q9WTY4-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Thr259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9WTY4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTY4" }, { "database": "PubMed", "id": "21633078", "url": "https://glygen.org/publication/PubMed/21633078" } ] } ] } ], "record_id": "Q9WTY4-1" }, { "uniprot_canonical_ac": "Q9WUA6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 55714.0, "gene_names": "Akt3;Akt3;D930002M15Rik;Nmf350", "protein_name": "RAC-gamma serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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 } ], "biological_process": [ { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "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": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "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": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "negative regulation of PERK-mediated unfolded protein response", "id": "GO:1903898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903898", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "positive regulation of artery morphogenesis", "id": "GO:1905653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905653", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Thr298", "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": 298, "start_aa": "Thr", "end_pos": 298, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr298", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUA6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUA6" }, { "id": "Q9WUA6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9WUA6" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Thr302", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 302, "start_aa": "Thr", "end_pos": 302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr302", "evidence": [ { "id": "Q9WUA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "Q9WUA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 472, "start_aa": "Ser", "end_pos": 472, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser472", "evidence": [ { "id": "Q9WUA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" }, { "database": "iPTMnet", "id": "Q9WUA6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WUA6" }, { "database": "PubMed", "id": "10491192", "url": "https://glygen.org/publication/PubMed/10491192" }, { "database": "PubMed", "id": "32291381", "url": "https://glygen.org/publication/PubMed/32291381" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Thr305", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA6-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Asp219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Enhances kinase activity and causes low seizure threshold, sporadic tonic-clonic seizures, brain enlargement and ectopic neurons in the dentate hilus and molecular layer of the hippocampus.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA6", "url": "https://www.uniprot.org/uniprotkb/Q9WUA6" }, { "database": "PubMed", "id": "21159799", "url": "https://glygen.org/publication/PubMed/21159799" } ] } ] } ], "record_id": "Q9WUA6-1" }, { "uniprot_canonical_ac": "Q9WV31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 396, "chemical_mass": 45321.0, "gene_names": "Arc;Arc3.1;Arc;arg3.1;mArc", "protein_name": "Activity-regulated cytoskeleton-associated protein", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "postsynaptic endosome", "id": "GO:0098845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098845", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "neuronal ribonucleoprotein granule", "id": "GO:0071598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071598", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "virus-like capsid", "id": "GO:0170047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170047", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of long-term synaptic depression", "id": "GO:1900452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900452", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "vesicle-mediated intercellular transport", "id": "GO:0110077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110077", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "positive regulation of AMPA receptor activity", "id": "GO:2000969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000969", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "regulation of cell morphogenesis", "id": "GO:0022604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022604", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "regulation of long-term synaptic potentiation", "id": "GO:1900271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900271", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor internalization", "id": "GO:0099149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099149", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Thr175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 175, "start_aa": "Thr", "end_pos": 175, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr175", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "iPTMnet", "id": "Q9WV31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by CaMK2; knockin mice display normal baseline synaptic transmission and long-term potentiation (LTP) in the hippocampus, but metabotropic receptor-LTD is increased; when associated with A-278.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant; impaired ability to homooligomerize at 30 degrees Celsius.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Thr278", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" }, { "database": "iPTMnet", "id": "Q9WV31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WV31" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolished phosphorylation by CaMK2; knockin mice display normal baseline synaptic transmission and long-term potentiation (LTP) in the hippocampus, but metabotropic receptor-LTD is increased; when associated with A-278.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Phosphomimetic mutant; does not affect ability to homooligomerize.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Lys92", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAC->NAC).", "chr_id": "15", "chr_pos": "74543946", "evidence": [ { "id": "rs3389372163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389372163" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gln241", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Impaired ability to homooligomerize at 30 degrees Celsius.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Lys257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired ability to homooligomerize at 30 degrees Celsius.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Gly277", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Impaired ability to homooligomerize at 30 degrees Celsius.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] }, { "uniprot_canonical_ac": "Q9WV31-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Impaired ability to homooligomerize at 30 degrees Celsius.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV31", "url": "https://www.uniprot.org/uniprotkb/Q9WV31" }, { "database": "PubMed", "id": "31151856", "url": "https://glygen.org/publication/PubMed/31151856" } ] } ] } ], "record_id": "Q9WV31-1" }, { "uniprot_canonical_ac": "Q9Z1R3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 190, "chemical_mass": 21273.0, "gene_names": "Apom;1190010O19Rik;Apom;G3a;NG20;Ng20", "protein_name": "Apolipoprotein M", "disease": [ { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "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": "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 } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "spherical high-density lipoprotein particle", "id": "GO:0034366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034366", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "discoidal high-density lipoprotein particle", "id": "GO:0034365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034365", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" } ], "biological_process": [ { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" }, { "name": "negative regulation of plasma lipoprotein oxidation", "id": "GO:0034445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034445", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1R3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1R3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z1R3-1" }, { "uniprot_canonical_ac": "P14094-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 304, "chemical_mass": 35195.0, "gene_names": "Atp1b1;Atp1b1;Atp4b;Atpb-1;Atpb;NKbeta1", "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "disease": [ { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sodium:potassium-exchanging ATPase complex", "id": "GO:0005890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by calcium ion signaling", "id": "GO:0010882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010882", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "establishment or maintenance of transmembrane electrochemical gradient", "id": "GO:0010248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010248", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "membrane repolarization", "id": "GO:0086009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086009", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "positive regulation of sodium ion export across plasma membrane", "id": "GO:1903278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903278", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "positive regulation of potassium ion import across plasma membrane", "id": "GO:1903288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903288", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "regulation of calcium ion transmembrane transport", "id": "GO:1903169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903169", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" }, { "name": "transporter activator activity", "id": "GO:0141109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141109", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14094-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Asn158", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01485JJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LDWLGNCSGLNDDSYGYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "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" } ] }, { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G10429PX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G11911BT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G11917LX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G13749ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G16017RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G22267GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G40024DP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G44231RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G53844ZR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G54678CA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G57471MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "glytoucan_ac": "G74425BR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "reported site N102 is on non-canonical isoform A0A0A6YX05-1 which maps to canonical isoform site P14094-1:158", "icn3d_view": {}, "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "A0A0A6YX05", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/A0A0A6YX05" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" }, { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" } ] }, { "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": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "P14094", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14094#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P14094-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Asn193", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02281EI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G03098YJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G04062KZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G04527QL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G07166XN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G09356UW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G10429PX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G11887MW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G11917LX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G13749ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G14803QL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G15908WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G16017RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G22267GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G24377DY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G25439GW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G28135GF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G30799SW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35541EV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PKPPKNESLETYPLMMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "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" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G39619TI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G40024DP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G41882MT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44231RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G49980AO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G51413EV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G54678CA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G57471MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G59536GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G66558PO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G73291XG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G74425BR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G78790NZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G79568CQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G80733BW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G87120RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G87909ND", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/P14094" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "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": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "P14094", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14094#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P14094-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Asn266", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 266, "start_aa": "Asn", "end_pos": 266, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn266", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2727", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2727" } ] }, { "glytoucan_ac": "G85677PP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YLQPLLAVQFTNLTVDTEIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 266, "start_aa": "Asn", "end_pos": 266, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn266", "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" } ] }, { "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": 266, "start_aa": "Asn", "end_pos": 266, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn266", "evidence": [ { "id": "P14094", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14094#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P14094-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Tyr101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P14094", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14094" } ] } ] }, { "uniprot_canonical_ac": "P14094-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14094", "url": "https://www.uniprot.org/uniprotkb/P14094" } ] } ] } ], "record_id": "P14094-1" }, { "uniprot_canonical_ac": "Q6PIC6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1013, "chemical_mass": 111692.0, "gene_names": "Atp1a3;Atp1a3;Atpa-2", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-3", "disease": [ { "disease_id": "DOID:0050635", "name": "alternating hemiplegia of childhood", "description": "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.", "url": "https://disease-ontology.org/term/DOID:0050635", "evidence": [ { "id": "0050635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050635" } ], "weight": 0.0 }, { "disease_id": "DOID:0060178", "name": "familial hemiplegic migraine", "description": "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.", "url": "https://disease-ontology.org/term/DOID:0060178", "evidence": [ { "id": "0060178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060178" } ], "weight": 0.0 }, { "disease_id": "DOID:0070385", "name": "developmental and epileptic encephalopathy 99", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0070385", "evidence": [ { "id": "0070385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070385" } ], "weight": 0.0 }, { "disease_id": "DOID:0090056", "name": "dystonia 12", "description": "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0090056", "evidence": [ { "id": "0090056", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090056" } ], "weight": 0.0 }, { "disease_id": "DOID:0111558", "name": "Charcot-Marie-Tooth disease type 2DD", "description": "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.", "url": "https://disease-ontology.org/term/DOID:0111558", "evidence": [ { "id": "0111558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111558" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:863", "name": "nervous system disease", "description": "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:863", "evidence": [ { "id": "863", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:863" } ], "weight": 0.0 } ], "biological_process": [ { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "regulation of short-term neuronal synaptic plasticity", "id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to lithium ion", "id": "GO:0010226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010226", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "fear response", "id": "GO:0042596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042596", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to environmental enrichment", "id": "GO:0090648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090648", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "carboxylic acid transport", "id": "GO:0046942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046942", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to potassium ion", "id": "GO:0035864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035864", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "walking behavior", "id": "GO:0090659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090659", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell membrane potential", "id": "GO:0086036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086036", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "brain-derived neurotrophic factor receptor signaling pathway", "id": "GO:0031547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031547", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "L-ascorbic acid metabolic process", "id": "GO:0019852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019852", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to methamphetamine hydrochloride", "id": "GO:1904313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904313", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "response to monoamine", "id": "GO:0071867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071867", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "inhibitory chemical synaptic transmission", "id": "GO:0098977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098977", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "sodium:potassium-exchanging ATPase complex", "id": "GO:0005890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "dendritic spine neck", "id": "GO:0044326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044326", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "dendritic spine head", "id": "GO:0044327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044327", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "neuron to neuron synapse", "id": "GO:0098984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098984", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "D1 dopamine receptor binding", "id": "GO:0031748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031748", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asn205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36379GD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VDNSSLTGESEPQTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "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": "Q6PIC6-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Asn231", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G73430PD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPDCTHDNPLETRNITFFSTNCVEGTAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 231, "start_aa": "Asn", "end_pos": 231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn231", "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": "Q6PIC6-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Asn473", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VAEIPFNSTNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 473, "start_aa": "Asn", "end_pos": 473, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn473", "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" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 473, "start_aa": "Asn", "end_pos": 473, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn473", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2725", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2725" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Thr607", "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": 607, "start_aa": "Thr", "end_pos": 607, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr607", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIC6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Ser643", "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": 643, "start_aa": "Ser", "end_pos": 643, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser643", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6PIC6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Asn674", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G52560PC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 674, "start_aa": "Asn", "end_pos": 674, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn674", "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": "Q6PIC6-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Asn710", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 710, "start_aa": "Asn", "end_pos": 710, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn710", "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": "Q6PIC6-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIC6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" }, { "database": "PubMed", "id": "15648052", "url": "https://glygen.org/publication/PubMed/15648052" }, { "database": "iPTMnet", "id": "Q6PIC6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ser37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Tyr548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q6PIC6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PIC6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "933", "end_pos": "933", "site_lbl": "Ser933", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" } ] } ] }, { "uniprot_canonical_ac": "Q6PIC6-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Ile810", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "In Myk strain; displays spontaneous seizures and neuronal hyperexcitability in heterozygotes and perinatal death in homozygote. Reduces Na(+)/K(+)-ATPase activity by 42% in Myk-/+ brain.", "evidence": [ { "database": "UniProtKB", "id": "Q6PIC6", "url": "https://www.uniprot.org/uniprotkb/Q6PIC6" }, { "database": "PubMed", "id": "19666602", "url": "https://glygen.org/publication/PubMed/19666602" } ] } ] } ], "record_id": "Q6PIC6-1" }, { "uniprot_canonical_ac": "Q9EPB4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 193, "chemical_mass": 21459.0, "gene_names": "Pycard;9130417A21Rik;Asc;CARD5;Pycard;TMS-1;TNS1;masc", "protein_name": "Apoptosis-associated speck-like protein containing a CARD", "disease": [ { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "biological_process": [ { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "osmosensory signaling pathway", "id": "GO:0007231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of GTPase activity", "id": "GO:0043087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043087", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "negative regulation of protein serine/threonine kinase activity", "id": "GO:0071901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071901", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "myeloid dendritic cell activation", "id": "GO:0001773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001773", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "myeloid dendritic cell activation involved in immune response", "id": "GO:0002277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002277", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of antigen processing and presentation of peptide antigen via MHC class II", "id": "GO:0002588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002588", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010803", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "negative regulation of interferon-beta production", "id": "GO:0032688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032688", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "macropinocytosis", "id": "GO:0044351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044351", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001242", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "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": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "AIM2 inflammasome complex", "id": "GO:0097169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097169", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "IkappaB kinase complex", "id": "GO:0008385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008385", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "NLRP1 inflammasome complex", "id": "GO:0072558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072558", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex", "id": "GO:0072559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072559", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "NLRP6 inflammasome complex", "id": "GO:0140738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140738", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "interleukin-6 receptor binding", "id": "GO:0005138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005138", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "tropomyosin binding", "id": "GO:0005523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005523", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "myosin I binding", "id": "GO:0017024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017024", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "Pyrin domain binding", "id": "GO:0032090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032090", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "peptidase activator activity involved in apoptotic process", "id": "GO:0016505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016505", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity", "id": "GO:0140608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140608", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPB4-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G96782US", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLFSFVPSWNLTCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "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": "Q9EPB4-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Tyr144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9EPB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPB4" }, { "database": "PubMed", "id": "27421477", "url": "https://glygen.org/publication/PubMed/27421477" } ] } ] }, { "uniprot_canonical_ac": "Q9EPB4-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB4", "url": "https://www.uniprot.org/uniprotkb/Q9EPB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPB4" } ] } ] } ], "record_id": "Q9EPB4-1" }, { "uniprot_canonical_ac": "O35126-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1175, "chemical_mass": 123724.0, "gene_names": "Atn1;Atn1;Atr1;Drpla;atrophin-1", "protein_name": "Atrophin-1", "disease": [ { "disease_id": "DOID:0060162", "name": "dentatorubral-pallidoluysian atrophy", "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.", "url": "https://disease-ontology.org/term/DOID:0060162", "evidence": [ { "id": "0060162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060162" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "biological_process": [ { "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": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "maintenance of cell polarity", "id": "GO:0030011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030011", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "cell killing", "id": "GO:0001906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001906", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35126-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Asn128", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SINDDGSSDPRDIDQDNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "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": "O35126-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Thr353", "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": 353, "start_aa": "Thr", "end_pos": 353, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr353", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O35126", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35126" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "O35126", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35126" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "124724175", "evidence": [ { "id": "rs254361698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254361698" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "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": 357, "start_aa": "Ser", "end_pos": 357, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser357", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O35126", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35126" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "O35126", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "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": 365, "start_aa": "Ser", "end_pos": 365, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser365", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O35126", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35126" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "O35126", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "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": 366, "start_aa": "Ser", "end_pos": 366, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser366", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O35126", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35126" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "O35126", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35126" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35126", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35126", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Thr638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Ser646", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Thr654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ser731", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35126", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35126", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35126" } ] } ] }, { "uniprot_canonical_ac": "O35126-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Ser881", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35126", "url": "https://www.uniprot.org/uniprotkb/O35126" } ] } ] } ], "record_id": "O35126-1" }, { "uniprot_canonical_ac": "O08664-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 23445.0, "gene_names": "Bcl7c;Bcl7c;C230096E12Rik", "protein_name": "B-cell CLL/lymphoma 7 protein family member C", "disease": [], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "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": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "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": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08664-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Thr152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 152, "start_aa": "Thr", "end_pos": 152, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr152", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Thr118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] }, { "uniprot_canonical_ac": "O08664-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08664", "url": "https://www.uniprot.org/uniprotkb/O08664" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08664", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08664" } ] } ] } ], "record_id": "O08664-1" }, { "uniprot_canonical_ac": "P70444-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 195, "chemical_mass": 21952.0, "gene_names": "Bid;2700049M22Rik;Bid", "protein_name": "BH3-interacting domain death agonist", "disease": [ { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "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: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 }, { "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902230", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902110", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of fibroblast apoptotic process", "id": "GO:2000271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000271", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "positive regulation of autophagy in response to ER overload", "id": "GO:0034263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034263", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "mitochondrial ATP synthesis coupled electron transport", "id": "GO:0042775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042775", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "establishment of protein localization to membrane", "id": "GO:0090150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090150", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "mitochondrial outer membrane permeabilization", "id": "GO:0097345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097345", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902108", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70444-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Thr58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P70444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70444" }, { "database": "PubMed", "id": "16606343", "url": "https://glygen.org/publication/PubMed/16606343" } ] } ] }, { "uniprot_canonical_ac": "P70444-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P70444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70444" }, { "database": "PubMed", "id": "16606343", "url": "https://glygen.org/publication/PubMed/16606343" } ] } ] }, { "uniprot_canonical_ac": "P70444-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" } ] } ] }, { "uniprot_canonical_ac": "P70444-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Asp59", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolished cleavage and ability to promote release of release of cytochrome c.", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" }, { "database": "PubMed", "id": "9727492", "url": "https://glygen.org/publication/PubMed/9727492" } ] } ] }, { "uniprot_canonical_ac": "P70444-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Asp75", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect ability to promote release of release of cytochrome c.", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" }, { "database": "PubMed", "id": "9727492", "url": "https://glygen.org/publication/PubMed/9727492" } ] } ] }, { "uniprot_canonical_ac": "P70444-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asp98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of proteolytical cleavage leading to the production of p11 BID.", "evidence": [ { "database": "UniProtKB", "id": "P70444", "url": "https://www.uniprot.org/uniprotkb/P70444" }, { "database": "PubMed", "id": "9873064", "url": "https://glygen.org/publication/PubMed/9873064" } ] } ] } ], "record_id": "P70444-1" }, { "uniprot_canonical_ac": "P98200-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1148, "chemical_mass": 129417.0, "gene_names": "Atp8a2;Atp8a2;Atpc1b;agil;wl", "protein_name": "Phospholipid-transporting ATPase IB", "disease": [ { "disease_id": "DOID:0050997", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome", "description": "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050997", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ], "weight": 0.0 }, { "disease_id": "DOID:0070559", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4", "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.", "url": "https://disease-ontology.org/term/DOID:0070559", "evidence": [ { "id": "0070559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070559" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm annulus", "id": "GO:0097227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097227", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "phospholipid-translocating ATPase complex", "id": "GO:1990531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990531", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase activity", "id": "GO:0090555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090555", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "aminophospholipid flippase activity", "id": "GO:0015247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015247", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "ATPase-coupled intramembrane lipid transporter activity", "id": "GO:0140326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140326", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "phosphatidylserine flippase activity", "id": "GO:0140346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140346", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "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": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "involuntary skeletal muscle contraction", "id": "GO:0003011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003011", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "positive regulation of phospholipid translocation", "id": "GO:0061092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061092", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" }, { "name": "aminophospholipid translocation", "id": "GO:0140331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140331", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P98200-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LMQNSTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "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": "P98200-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Asn433", "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": "MTSCTNDSCDFNDPRLLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "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": "P98200-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Asn808", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G38121RE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 808, "start_aa": "Asn", "end_pos": 808, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn808", "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": "P98200-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P98200", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P98200" } ] } ] }, { "uniprot_canonical_ac": "P98200-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Asp388", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes phosphatidylserine translocase activity, abolishes effect on neurite outgrowth.", "evidence": [ { "database": "UniProtKB", "id": "P98200", "url": "https://www.uniprot.org/uniprotkb/P98200" }, { "database": "PubMed", "id": "22912588", "url": "https://glygen.org/publication/PubMed/22912588" }, { "database": "PubMed", "id": "22641037", "url": "https://glygen.org/publication/PubMed/22641037" } ] } ] } ], "record_id": "P98200-1" }, { "uniprot_canonical_ac": "P97450-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 108, "chemical_mass": 12496.0, "gene_names": "Atp5pf;Atp5j;Atp5pf;CF6", "protein_name": "ATP synthase peripheral stalk subunit F6, mitochondrial", "disease": [ { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of arachidonate secretion", "id": "GO:1900139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900139", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "negative regulation of prostaglandin secretion", "id": "GO:0032307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032307", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "proton motive force-driven ATP synthesis", "id": "GO:0015986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015986", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97450-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Thr89", "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": 89, "start_aa": "Thr", "end_pos": 89, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr89", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P97450", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97450" } ] } ] }, { "uniprot_canonical_ac": "P97450-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97450", "url": "https://www.uniprot.org/uniprotkb/P97450" } ] } ] } ], "record_id": "P97450-1" }, { "uniprot_canonical_ac": "P03930-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P03930", "url": "https://www.uniprot.org/uniprotkb/P03930" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 67, "chemical_mass": 7766.0, "gene_names": "Mtatp8;ATP8;Atp8;mt-Atp8", "protein_name": "ATP synthase F(0) complex subunit 8", "disease": [ { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "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 } ], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P03930", "url": "https://www.uniprot.org/uniprotkb/P03930" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "P03930", "url": "https://www.uniprot.org/uniprotkb/P03930" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "P03930", "url": "https://www.uniprot.org/uniprotkb/P03930" } ], "pmid": "" } ], "biological_process": [ { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "P03930", "url": "https://www.uniprot.org/uniprotkb/P03930" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P03930-1" }, { "uniprot_canonical_ac": "Q06185-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 71, "chemical_mass": 8236.0, "gene_names": "Atp5me;2610008D24Rik;Atp5i;Atp5k;Atp5me;Lfm-1;Lfm1", "protein_name": "ATP synthase F(0) complex subunit e, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase activity, rotational mechanism", "id": "GO:0046933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" } ], "biological_process": [ { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q06185-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06185", "url": "https://www.uniprot.org/uniprotkb/Q06185" } ] } ] } ], "record_id": "Q06185-1" }, { "uniprot_canonical_ac": "Q6PFX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 31270.0, "gene_names": "Bend6;B230209C24Rik;Bend6", "protein_name": "BEN domain-containing protein 6", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "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": "Q6PFX2", "url": "https://www.uniprot.org/uniprotkb/Q6PFX2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PFX2-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ATNNSSPDSFASLCSNSNSTSSSPSSVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "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" } ] } ] } ], "record_id": "Q6PFX2-1" }, { "uniprot_canonical_ac": "Q6UQ17-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1335, "chemical_mass": 151955.0, "gene_names": "Atp8b3;1700042F02Rik;1700056N23Rik;ATPIK;Atp8b3;SAPLT", "protein_name": "Phospholipid-transporting ATPase IK", "disease": [ { "disease_id": "DOID:0070221", "name": "progressive familial intrahepatic cholestasis", "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.", "url": "https://disease-ontology.org/term/DOID:0070221", "evidence": [ { "id": "0070221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070221" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "phosphatidylserine floppase activity", "id": "GO:0090556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090556", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "ATPase-coupled intramembrane lipid transporter activity", "id": "GO:0140326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140326", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" } ], "biological_process": [ { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q6UQ17", "url": "https://www.uniprot.org/uniprotkb/Q6UQ17" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6UQ17-1" }, { "uniprot_canonical_ac": "Q80Z10-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1352, "chemical_mass": 149390.0, "gene_names": "Astn2;1d8;Astn2;Astnl;Kiaa0634;bM452J22.1", "protein_name": "Astrotactin-2", "disease": [], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "cell pole", "id": "GO:0060187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060187", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "negative regulation of protein localization to cell surface", "id": "GO:2000009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000009", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "establishment of body hair planar orientation", "id": "GO:0048105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048105", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "neuron cell-cell adhesion", "id": "GO:0007158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007158", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" } ], "molecular_function": [ { "name": "inositol 1,3,4,5 tetrakisphosphate binding", "id": "GO:0043533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043533", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprotkb/Q80Z10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80Z10-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Thr1014", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1014, "start_aa": "Thr", "end_pos": 1014, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1014", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80Z10-1", "start_pos": "1033", "end_pos": "1033", "site_lbl": "Asn1033", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVPLYTLIQDNGTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1033, "start_aa": "Asn", "end_pos": 1033, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1033", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1033, "start_aa": "Asn", "end_pos": 1033, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1033", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2137", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2137" } ] }, { "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": 1033, "start_aa": "Asn", "end_pos": 1033, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1033", "evidence": [ { "id": "Q80Z10", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80Z10#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80Z10-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Asn1074", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CDLSAFDASGLPNCSPLPQPVLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "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": "Q80Z10-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Asn180", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "Q80Z10", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80Z10#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80Z10-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Asn796", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G26436YP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FNDTLFGEMLHGYNNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 796, "start_aa": "Asn", "end_pos": 796, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn796", "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" } ] }, { "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": 796, "start_aa": "Asn", "end_pos": 796, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn796", "evidence": [ { "id": "Q80Z10", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80Z10#ptm_processing" } ] } ] } ], "record_id": "Q80Z10-1" }, { "uniprot_canonical_ac": "Q99MY8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2958, "chemical_mass": 331333.0, "gene_names": "Ash1l;8030453L17Rik;Ash1l;Ash1;E430018P19Rik;Kmt2h", "protein_name": "Histone-lysine N-methyltransferase ASH1L", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080231", "name": "autosomal dominant intellectual developmental disorder 52", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0080231", "evidence": [ { "id": "0080231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080231" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sebaceous gland development", "id": "GO:0048733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048733", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "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": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "uterus morphogenesis", "id": "GO:0061038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061038", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "tarsal gland development", "id": "GO:1903699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903699", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "uterine gland development", "id": "GO:1903709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903709", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "histone H3K36 methyltransferase activity", "id": "GO:0046975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046975", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "histone H3K9 methyltransferase activity", "id": "GO:0046974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046974", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "histone H3K9 monomethyltransferase activity", "id": "GO:0140948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140948", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "histone H3K36 trimethyltransferase activity", "id": "GO:0140955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140955", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MY8-1", "start_pos": "2779", "end_pos": "2779", "site_lbl": "Ser2779", "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": 2779, "start_aa": "Ser", "end_pos": 2779, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2779", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q99MY8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99MY8" } ] } ] }, { "uniprot_canonical_ac": "Q99MY8-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Ser1160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MY8" } ] } ] }, { "uniprot_canonical_ac": "Q99MY8-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Ser1168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MY8" } ] } ] }, { "uniprot_canonical_ac": "Q99MY8-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MY8", "url": "https://www.uniprot.org/uniprotkb/Q99MY8" } ] } ] }, { "uniprot_canonical_ac": "Q99MY8-1", "start_pos": "1197", "end_pos": "1197", "site_lbl": "Ser1197", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "3", "chr_pos": "88891712", "evidence": [ { "id": "rs3393331143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393331143" } ] } ] } ], "record_id": "Q99MY8-1" }, { "uniprot_canonical_ac": "O54689-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 367, "chemical_mass": 42103.0, "gene_names": "Ccr6;CC-CKR-6;CCR-6;Ccr6;Cmkbr6;KY411", "protein_name": "C-C chemokine receptor type 6", "disease": [ { "disease_id": "DOID:0050486", "name": "exanthem", "description": "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.", "url": "https://disease-ontology.org/term/DOID:0050486", "evidence": [ { "id": "0050486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050486" } ], "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:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "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: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: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 } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "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": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "isotype switching to IgA isotypes", "id": "GO:0048290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048290", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility involved in capacitation", "id": "GO:0060474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060474", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "lymphocyte migration", "id": "GO:0072676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072676", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "T cell migration", "id": "GO:0072678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072678", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "thymocyte migration", "id": "GO:0072679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072679", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "DN2 thymocyte differentiation", "id": "GO:1904155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904155", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "DN3 thymocyte differentiation", "id": "GO:1904156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904156", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "regulation of T cell migration", "id": "GO:2000404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000404", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell chemotaxis", "id": "GO:2000510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000510", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "sperm plasma membrane", "id": "GO:0097524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097524", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "O54689", "url": "https://www.uniprot.org/uniprotkb/O54689" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54689-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "evidence": [ { "id": "O54689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54689#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54689-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asn35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "O54689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54689#ptm_processing" } ] } ] } ], "record_id": "O54689-1" }, { "uniprot_canonical_ac": "O89094-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 257, "chemical_mass": 29458.0, "gene_names": "Casp14;Casp14;MICE;mini-ICE", "protein_name": "Caspase-14", "disease": [ { "disease_id": "DOID:0060655", "name": "autosomal recessive congenital ichthyosis", "description": "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.", "url": "https://disease-ontology.org/term/DOID:0060655", "evidence": [ { "id": "0060655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060655" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O89094-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Cys136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Decrease in death-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "O89094", "url": "https://www.uniprot.org/uniprotkb/O89094" }, { "database": "PubMed", "id": "9792675", "url": "https://glygen.org/publication/PubMed/9792675" } ] } ] } ], "record_id": "O89094-1" }, { "uniprot_canonical_ac": "P16015-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 260, "chemical_mass": 29366.0, "gene_names": "Ca3;Ca3;Car-3;Car3", "protein_name": "Carbonic anhydrase 3", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide", "id": "GO:1903751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903751", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "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": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16015-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Tyr127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Thr129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P16015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] }, { "uniprot_canonical_ac": "P16015-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Thr73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16015", "url": "https://www.uniprot.org/uniprotkb/P16015" } ] } ] } ], "record_id": "P16015-1" }, { "uniprot_canonical_ac": "P29452-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 45640.0, "gene_names": "Casp1;Casp1;ICE;Il1bc", "protein_name": "Caspase-1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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: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:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 alpha production", "id": "GO:0032730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032730", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "osmosensory signaling pathway", "id": "GO:0007231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "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": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "mitochondrial depolarization", "id": "GO:0051882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051882", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0046010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046010", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein poly-ADP-ribosylation", "id": "GO:0070212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070212", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cytokine precursor processing", "id": "GO:0140447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140447", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "signaling receptor ligand precursor processing", "id": "GO:0140448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140448", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "response to paraquat", "id": "GO:1901562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901562", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "AIM2 inflammasome complex assembly", "id": "GO:0140970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140970", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "pyroptotic cell death", "id": "GO:0141201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141201", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "CARD domain binding", "id": "GO:0050700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050700", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "AIM2 inflammasome complex", "id": "GO:0097169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097169", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "NLRP1 inflammasome complex", "id": "GO:0072558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072558", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex", "id": "GO:0072559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072559", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "IPAF inflammasome complex", "id": "GO:0072557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072557", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "protease inhibitor complex", "id": "GO:0097179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097179", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" }, { "name": "caspase complex", "id": "GO:0008303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008303", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P29452-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P29452", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P29452" } ] } ] }, { "uniprot_canonical_ac": "P29452-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asp103", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "In C71 mutant; abolished cleavage and ability to generate caspase-1 subunits; abolished ability to process inflammatory cytokine interleukin-1 beta (IL1B) and ability to induce programmed cell death; when associated with N-122 and 296-N--N-314.", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "21147462", "url": "https://glygen.org/publication/PubMed/21147462" } ] } ] }, { "uniprot_canonical_ac": "P29452-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asp122", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "In C71 mutant; abolished cleavage and ability to generate caspase-1 subunits; abolished ability to process inflammatory cytokine interleukin-1 beta (IL1B) and ability to induce programmed cell death; when associated with N-103 and 296-N--N-314.", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "21147462", "url": "https://glygen.org/publication/PubMed/21147462" } ] } ] }, { "uniprot_canonical_ac": "P29452-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Cys284", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of protease activity.", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "21147462", "url": "https://glygen.org/publication/PubMed/21147462" } ] } ] }, { "uniprot_canonical_ac": "P29452-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asp296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "In C47 mutant; does not affect ability to mediate inflammatory response; when associated with 313-N-N-314.", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "21147462", "url": "https://glygen.org/publication/PubMed/21147462" } ] } ] }, { "uniprot_canonical_ac": "P29452-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ile316", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Mediates autoprocessing but are unable to mediate cleavage of Gasdermin-D (GSDMD).", "evidence": [ { "database": "UniProtKB", "id": "P29452", "url": "https://www.uniprot.org/uniprotkb/P29452" }, { "database": "PubMed", "id": "32109412", "url": "https://glygen.org/publication/PubMed/32109412" } ] } ] } ], "record_id": "P29452-1" }, { "uniprot_canonical_ac": "P56388-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 129, "chemical_mass": 14285.0, "gene_names": "Cartpt;Cartpt;Cart", "protein_name": "Cocaine- and amphetamine-regulated transcript protein", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of locomotion involved in locomotory behavior", "id": "GO:0090325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090325", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "operant conditioning", "id": "GO:0035106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035106", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903999", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "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": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of locomotion", "id": "GO:0040013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040013", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of transmission of nerve impulse", "id": "GO:0051971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051971", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, REM sleep", "id": "GO:0042320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042320", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0045188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045188", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of pain", "id": "GO:0050968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050968", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of epinephrine secretion", "id": "GO:0032812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032812", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of bone resorption", "id": "GO:0045779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045779", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of glucagon secretion", "id": "GO:0070093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070093", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "somatostatin secretion", "id": "GO:0070253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070253", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, wakefulness", "id": "GO:0010840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010840", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of lipid biosynthetic process", "id": "GO:0046890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046890", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of lipid catabolic process", "id": "GO:0050994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050994", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of heart rate by chemical signal", "id": "GO:0003062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003062", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of type B pancreatic cell apoptotic process", "id": "GO:2000675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000675", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of bone remodeling", "id": "GO:0046850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046850", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "positive regulation of type B pancreatic cell proliferation", "id": "GO:1904692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904692", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "negative regulation of relaxation of smooth muscle", "id": "GO:1901081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901081", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "response to corticotropin-releasing hormone", "id": "GO:0043435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043435", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by neurotransmitter", "id": "GO:0003070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003070", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56388-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Tyr41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" } ] } ] }, { "uniprot_canonical_ac": "P56388-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56388", "url": "https://www.uniprot.org/uniprotkb/P56388" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56388", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56388" } ] } ] } ], "record_id": "P56388-1" }, { "uniprot_canonical_ac": "Q80ZU5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 509, "chemical_mass": 59241.0, "gene_names": "Ccdc181;4930455F23Rik;Ccdc181", "protein_name": "Coiled-coil domain-containing protein 181", "disease": [], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "manchette assembly", "id": "GO:1905198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905198", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" }, { "name": "sperm flagellum assembly", "id": "GO:0120316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120316", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU5", "url": "https://www.uniprot.org/uniprotkb/Q80ZU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80ZU5-1" }, { "uniprot_canonical_ac": "Q9JJ89-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 46487.0, "gene_names": "Ccdc86;4933411H20Rik;6720480F16Rik;Ccdc86;Cyclon;D19Ertd678e;MNCb-4327", "protein_name": "Coiled-coil domain-containing protein 86", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" } ], "biological_process": [ { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" }, { "name": "mitotic nuclear division", "id": "GO:0140014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140014", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "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": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJ89", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ89-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ89", "url": "https://www.uniprot.org/uniprotkb/Q9JJ89" } ] } ] } ], "record_id": "Q9JJ89-1" }, { "uniprot_canonical_ac": "A2AMM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 41008.0, "gene_names": "Cavin4;2310039E09Rik;Cavin4;Murc", "protein_name": "Caveolae-associated protein 4", "disease": [ { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "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": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 334, "start_aa": "Thr", "end_pos": 334, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr334", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AMM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Tyr324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AMM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AMM0", "url": "https://www.uniprot.org/uniprotkb/A2AMM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AMM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AMM0" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Ile258", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "4", "chr_pos": "48672329", "evidence": [ { "id": "rs3388663706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663706" } ] } ] }, { "uniprot_canonical_ac": "A2AMM0-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Asp351", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "4", "chr_pos": "48672607", "evidence": [ { "id": "rs3388682696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388682696" } ] } ] } ], "record_id": "A2AMM0-1" }, { "uniprot_canonical_ac": "Q810N9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810N9", "url": "https://www.uniprot.org/uniprotkb/Q810N9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 31483.0, "gene_names": "Ccdc172;1700011F14Rik;Ccdc172;Tekt2bp1", "protein_name": "Coiled-coil domain-containing protein 172", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q810N9", "url": "https://www.uniprot.org/uniprotkb/Q810N9" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q810N9", "url": "https://www.uniprot.org/uniprotkb/Q810N9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q810N9-1" }, { "uniprot_canonical_ac": "Q8BWF2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 308, "chemical_mass": 34653.0, "gene_names": "Gimap5;D630024P16;E230026N22Rik;Gimap5;Ian4l1;Ian5;Imap3", "protein_name": "GTPase IMAP family member 5", "disease": [ { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "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 } ], "biological_process": [ { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032831", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "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": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of membrane potential", "id": "GO:0045838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045838", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "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": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell cytokine production", "id": "GO:0002729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002729", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q8BWF2", "url": "https://www.uniprot.org/uniprotkb/Q8BWF2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BWF2-1" }, { "uniprot_canonical_ac": "Q99MI6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 34179.0, "gene_names": "Gimap3;2010110D23Rik;Gimap3;Gimap5;Ian4", "protein_name": "GTPase IMAP family member 3", "disease": [ { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "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 } ], "biological_process": [ { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032831", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "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": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of membrane potential", "id": "GO:0045838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045838", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "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": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "mitochondrial DNA metabolic process", "id": "GO:0032042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032042", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell cytokine production", "id": "GO:0002729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002729", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99MI6", "url": "https://www.uniprot.org/uniprotkb/Q99MI6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99MI6-1" }, { "uniprot_canonical_ac": "Q9QZB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 417, "chemical_mass": 46208.0, "gene_names": "Actr10;Act11;Actr10;Actr11;Arp10;Arp11", "protein_name": "Actin-related protein 10", "disease": [], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" }, { "name": "dynactin complex", "id": "GO:0005869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005869", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" }, { "name": "retrograde axonal transport of mitochondrion", "id": "GO:0098958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098958", "evidence": [ { "database": "UniProtKB", "id": "Q9QZB7", "url": "https://www.uniprot.org/uniprotkb/Q9QZB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QZB7-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Thr241", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 241, "start_aa": "Thr", "end_pos": 241, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr241", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9QZB7-1" }, { "uniprot_canonical_ac": "Q9Z0E3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 552, "chemical_mass": 59042.0, "gene_names": "Aire;Aire", "protein_name": "Autoimmune regulator", "disease": [ { "disease_id": "DOID:0050167", "name": "autoimmune polyendocrine syndrome type 1", "description": "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:0050167", "evidence": [ { "id": "0050167", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050167" } ], "weight": 0.0 }, { "disease_id": "DOID:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "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:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:14040", "evidence": [ { "id": "14040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "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": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "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": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "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": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "peripheral T cell tolerance induction", "id": "GO:0002458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002458", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "central tolerance induction to self antigen", "id": "GO:0002509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "thymus epithelium morphogenesis", "id": "GO:0097536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097536", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" }, { "name": "regulation of thymocyte migration", "id": "GO:2000410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000410", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Thr194", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 194, "start_aa": "Thr", "end_pos": 194, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr194", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 482, "start_aa": "Thr", "end_pos": 482, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr482", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 485, "start_aa": "Thr", "end_pos": 485, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr485", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "77870270", "evidence": [ { "id": "rs3389120990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389120990" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Asp299", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" }, { "database": "PubMed", "id": "18840680", "url": "https://glygen.org/publication/PubMed/18840680" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Val303", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "No effect on interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" }, { "database": "PubMed", "id": "18840680", "url": "https://glygen.org/publication/PubMed/18840680" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Cys312", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" }, { "database": "PubMed", "id": "18840680", "url": "https://glygen.org/publication/PubMed/18840680" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Cys313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" }, { "database": "PubMed", "id": "18840680", "url": "https://glygen.org/publication/PubMed/18840680" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E3-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Pro328", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Reduces interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E3" }, { "database": "PubMed", "id": "18840680", "url": "https://glygen.org/publication/PubMed/18840680" } ] } ] } ], "record_id": "Q9Z0E3-1" }, { "uniprot_canonical_ac": "Q3UX43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 541, "chemical_mass": 60150.0, "gene_names": "Ankrd13c;Ankrd13c", "protein_name": "Ankyrin repeat domain-containing protein 13C", "disease": [], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" }, { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" }, { "name": "cellular response to prostaglandin D stimulus", "id": "GO:0071799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071799", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" }, { "name": "regulation of anoikis", "id": "GO:2000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000209", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UX43-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UX43", "url": "https://www.uniprot.org/uniprotkb/Q3UX43" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UX43", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UX43" } ] } ] } ], "record_id": "Q3UX43-1" }, { "uniprot_canonical_ac": "Q3U108-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 63898.0, "gene_names": "Arid5a;Arid5a;D430024K22Rik;Mrf1", "protein_name": "AT-rich interactive domain-containing protein 5A", "disease": [], "biological_process": [ { "name": "positive regulation of protein acetylation", "id": "GO:1901985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901985", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "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": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell cytokine production", "id": "GO:2000556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000556", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "positive regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905870", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 type immune response", "id": "GO:2000318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000318", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Thr", "end_pos": 330, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 487, "start_aa": "Thr", "end_pos": 487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr487", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Thr491", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 491, "start_aa": "Thr", "end_pos": 491, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr491", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U108" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" }, { "database": "iPTMnet", "id": "Q3U108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U108" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes ubiquitination; largely impairs proteasomal degradation; results in overproduction of IL-6 upon overexpression; in association with A-433 and A-458.", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U108" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" }, { "database": "iPTMnet", "id": "Q3U108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U108" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes ubiquitination; largely impairs proteasomal degradation; results in overproduction of IL-6 upon overexpression; in association with A-253 and A-458.", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" }, { "database": "iPTMnet", "id": "Q3U108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U108" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes ubiquitination; largely impairs proteasomal degradation; results in overproduction of IL-6 upon overexpression; in association with A-253 and A-433.", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "28168301", "url": "https://glygen.org/publication/PubMed/28168301" } ] } ] }, { "uniprot_canonical_ac": "Q3U108-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Arg128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes binding to STAT3 3'UTR stem loop structure. Abolishes binding to TNFRSF4/OX40 mRNA.", "evidence": [ { "database": "UniProtKB", "id": "Q3U108", "url": "https://www.uniprot.org/uniprotkb/Q3U108" }, { "database": "PubMed", "id": "27022145", "url": "https://glygen.org/publication/PubMed/27022145" }, { "database": "PubMed", "id": "29244194", "url": "https://glygen.org/publication/PubMed/29244194" } ] } ] } ], "record_id": "Q3U108-1" }, { "uniprot_canonical_ac": "Q80WQ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 827, "chemical_mass": 93434.0, "gene_names": "Rhbdf2;4732465I17Rik;Irhom2;Rhbdf2;Rhbdl6;Rhor;Uncv;cub", "protein_name": "Inactive rhomboid protein 2", "disease": [ { "disease_id": "DOID:0111506", "name": "palmoplantar keratoderma-esophageal carcinoma syndrome", "description": "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.", "url": "https://disease-ontology.org/term/DOID:0111506", "evidence": [ { "id": "0111506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111506" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042058", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Asn26", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G56940FB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KPPNLSITIPPPESQAPGEQDSMLPER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 26, "start_aa": "Asn", "end_pos": 26, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn26", "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": "Q80WQ6-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Asn500", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WQNDTGPSDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 500, "start_aa": "Asn", "end_pos": 500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn500", "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": "Q80WQ6-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Asn555", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 555, "start_aa": "Asn", "end_pos": 555, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn555", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2389", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2389" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WPICTEQAQSNHTGLLHIDCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 555, "start_aa": "Asn", "end_pos": 555, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn555", "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": "Q80WQ6-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] }, { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] }, { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] }, { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] }, { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] }, { "uniprot_canonical_ac": "Q80WQ6-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WQ6", "url": "https://www.uniprot.org/uniprotkb/Q80WQ6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80WQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WQ6" } ] } ] } ], "record_id": "Q80WQ6-1" }, { "uniprot_canonical_ac": "Q9CSN1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 536, "chemical_mass": 61475.0, "gene_names": "Snw1;2310008B08Rik;NCoA-62;SKIP;Skiip;Snw1", "protein_name": "SNW domain-containing protein 1", "disease": [ { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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: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: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 } ], "biological_process": [ { "name": "positive regulation of mRNA splicing, via spliceosome", "id": "GO:0048026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048026", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "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": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "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": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "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": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "regulation of retinoic acid receptor signaling pathway", "id": "GO:0048385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048385", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "positive regulation of vitamin D receptor signaling pathway", "id": "GO:0070564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070564", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "regulation of vitamin D receptor signaling pathway", "id": "GO:0070562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070562", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "Schwann cell proliferation", "id": "GO:0014010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014010", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear vitamin D receptor binding", "id": "GO:0042809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042809", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "SMAD protein complex", "id": "GO:0071141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071141", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" }, { "name": "cyclin/CDK positive transcription elongation factor complex", "id": "GO:0008024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008024", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Asn368", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QHDRNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 368, "start_aa": "Asn", "end_pos": 368, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn368", "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": "Q9CSN1-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15878163", "url": "https://glygen.org/publication/PubMed/15878163" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9CSN1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9CSN1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] }, { "uniprot_canonical_ac": "Q9CSN1-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Ser481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSN1", "url": "https://www.uniprot.org/uniprotkb/Q9CSN1" } ] } ] } ], "record_id": "Q9CSN1-1" }, { "uniprot_canonical_ac": "Q8JZW5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZW5", "url": "https://www.uniprot.org/uniprotkb/Q8JZW5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 429, "chemical_mass": 47380.0, "gene_names": "Sh2d5;Sh2d5", "protein_name": "SH2 domain-containing protein 5", "disease": [], "cellular_component": [ { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8JZW5", "url": "https://www.uniprot.org/uniprotkb/Q8JZW5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8JZW5-1" }, { "uniprot_canonical_ac": "Q9JM98-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 52053.0, "gene_names": "Wrap73;2610044M17Rik;5330425N03Rik;Dd57;Wdr8;Wrap73", "protein_name": "WD repeat-containing protein WRAP73", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "MWP complex", "id": "GO:1990811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990811", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "positive regulation of non-motile cilium assembly", "id": "GO:1902857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902857", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" }, { "name": "microtubule anchoring at mitotic spindle pole body", "id": "GO:1990810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990810", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JM98-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JM98", "url": "https://www.uniprot.org/uniprotkb/Q9JM98" } ] } ] } ], "record_id": "Q9JM98-1" }, { "uniprot_canonical_ac": "Q80YS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 731, "chemical_mass": 80615.0, "gene_names": "Afap1;2600003E23Rik;9630044L16Rik;Afap1;Afap;Kiaa3018;mKIAA3018", "protein_name": "Actin filament-associated protein 1", "disease": [ { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Ser549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ser669", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "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": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Thr676", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Ser680", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YS6" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Ser688", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YS6", "url": "https://www.uniprot.org/uniprotkb/Q80YS6" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154919", "evidence": [ { "id": "rs3388728029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728029" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36105400", "evidence": [ { "id": "rs3388728097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728097" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Glu128", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36105431", "evidence": [ { "id": "rs3388753909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753909" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Leu14", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36092937", "evidence": [ { "id": "rs3388760229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760229" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Asp16", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36092944", "evidence": [ { "id": "rs3388750742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750742" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Lys176", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36105575", "evidence": [ { "id": "rs3388757202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757202" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Leu180", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36105585", "evidence": [ { "id": "rs3388757478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757478" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Asp208", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36108279", "evidence": [ { "id": "rs3388757714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757714" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ser209", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36108281", "evidence": [ { "id": "rs3388755209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755209" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ala229", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36108341", "evidence": [ { "id": "rs3388755213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755213" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Val268", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36119168", "evidence": [ { "id": "rs5526926081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526926081" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Val290", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36119591", "evidence": [ { "id": "rs3543351956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543351956" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Lys323", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36125974", "evidence": [ { "id": "rs3388760143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760143" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36092992", "evidence": [ { "id": "rs259364456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259364456" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Arg366", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36131770", "evidence": [ { "id": "rs3388758108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758108" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "378", "end_pos": "378", "site_lbl": "His378", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36131807", "evidence": [ { "id": "rs3388755152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755152" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Arg394", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36131855", "evidence": [ { "id": "rs3388728051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728051" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Tyr452", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36133920", "evidence": [ { "id": "rs3388758110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758110" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asn462", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36133951", "evidence": [ { "id": "rs3388728068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728068" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Asn475", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36141541", "evidence": [ { "id": "rs3388728026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728026" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Val479", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36141552", "evidence": [ { "id": "rs3388758042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758042" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Ala519", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36146920", "evidence": [ { "id": "rs237001740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237001740" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Glu539", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36146981", "evidence": [ { "id": "rs3388760225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760225" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ile600", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36151035", "evidence": [ { "id": "rs3388742906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742906" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Glu627", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36153366", "evidence": [ { "id": "rs3388757516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757516" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Glu629", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36153373", "evidence": [ { "id": "rs3388742869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742869" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Thr638", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36153400", "evidence": [ { "id": "rs3388750336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750336" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Glu678", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154889", "evidence": [ { "id": "rs864305690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864305690" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Asn679", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154893", "evidence": [ { "id": "rs3388755122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755122" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Asp686", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154915", "evidence": [ { "id": "rs3388755127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755127" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Gly692", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154931", "evidence": [ { "id": "rs3388750666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750666" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Leu694", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36154938", "evidence": [ { "id": "rs3388742885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742885" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Trp725", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36157047", "evidence": [ { "id": "rs3388763902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763902" } ] } ] }, { "uniprot_canonical_ac": "Q80YS6-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Pro84", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "36102559", "evidence": [ { "id": "rs3388757210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757210" } ] } ] } ], "record_id": "Q80YS6-1" }, { "uniprot_canonical_ac": "P48962-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 298, "chemical_mass": 32904.0, "gene_names": "Slc25a4;Aac1;Anc1;Ant1;Slc25a4;mANC1", "protein_name": "ADP/ATP translocase 1", "disease": [ { "disease_id": "DOID:0080130", "name": "mitochondrial DNA depletion syndrome 12a", "description": "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0080130", "evidence": [ { "id": "0080130", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080130" } ], "weight": 0.0 }, { "disease_id": "DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0080335", "evidence": [ { "id": "0080335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080335" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.", "url": "https://disease-ontology.org/term/DOID:0111517", "evidence": [ { "id": "0111517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111517" } ], "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:11727", "name": "facioscapulohumeral muscular dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11727", "evidence": [ { "id": "11727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11727" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12558", "name": "chronic progressive external ophthalmoplegia", "description": "A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions.", "url": "https://disease-ontology.org/term/DOID:12558", "evidence": [ { "id": "12558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12558" } ], "weight": 0.0 }, { "disease_id": "DOID:12935", "name": "alcoholic cardiomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12935", "evidence": [ { "id": "12935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ], "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:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction.", "url": "https://disease-ontology.org/term/DOID:699", "evidence": [ { "id": "699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:699" } ], "weight": 0.0 }, { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "ADP transport", "id": "GO:0015866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015866", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "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": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902109", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990845", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "positive regulation of oxidative phosphorylation uncoupler activity", "id": "GO:2000277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000277", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial ADP transmembrane transport", "id": "GO:0140021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140021", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial ATP transmembrane transport", "id": "GO:1990544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990544", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "ATP:ADP antiporter activity", "id": "GO:0005471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005471", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "oxidative phosphorylation uncoupler activity", "id": "GO:0017077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017077", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" }, { "name": "mitochondrial permeability transition pore complex", "id": "GO:0005757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005757", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48962-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "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": 42, "start_aa": "Ser", "end_pos": 42, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P48962", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P48962" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "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": 7, "start_aa": "Ser", "end_pos": 7, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser7", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P48962", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P48962" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ala123", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Abolished ability to regulate mitophagy.", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" }, { "database": "PubMed", "id": "31618756", "url": "https://glygen.org/publication/PubMed/31618756" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Arg244", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Abolished ADP:ATP antiporter activity without affecting ability to regulate mitophagy; when associated with E-43.", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" }, { "database": "PubMed", "id": "31618756", "url": "https://glygen.org/publication/PubMed/31618756" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Lys43", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Abolished ADP:ATP antiporter activity without affecting ability to regulate mitophagy; when associated with E-244.", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" }, { "database": "PubMed", "id": "31618756", "url": "https://glygen.org/publication/PubMed/31618756" } ] } ] }, { "uniprot_canonical_ac": "P48962-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ala90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Abolished ability to regulate mitophagy.", "evidence": [ { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprotkb/P48962" }, { "database": "PubMed", "id": "31618756", "url": "https://glygen.org/publication/PubMed/31618756" } ] } ] } ], "record_id": "P48962-1" }, { "uniprot_canonical_ac": "Q60604-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 715, "chemical_mass": 80254.0, "gene_names": "Scin;Scin;adseverin", "protein_name": "Scinderin", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" } ], "cellular_component": [ { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "actin polymerization or depolymerization", "id": "GO:0008154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008154", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "positive regulation of megakaryocyte differentiation", "id": "GO:0045654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045654", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "positive regulation of actin nucleation", "id": "GO:0051127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051127", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "actin filament capping", "id": "GO:0051693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051693", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60604-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Tyr102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q60604", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60604" } ] } ] }, { "uniprot_canonical_ac": "Q60604-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Tyr599", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60604", "url": "https://www.uniprot.org/uniprotkb/Q60604" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q60604", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60604" } ] } ] } ], "record_id": "Q60604-1" }, { "uniprot_canonical_ac": "O08691-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 354, "chemical_mass": 38878.0, "gene_names": "Arg2;AII;Arg2", "protein_name": "Arginase-2, mitochondrial", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9278", "name": "hyperargininemia", "description": "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.", "url": "https://disease-ontology.org/term/DOID:9278", "evidence": [ { "id": "9278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9278" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "regulation of interleukin-1 beta production", "id": "GO:0032651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032651", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "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": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of nitric-oxide synthase activity", "id": "GO:0051001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051001", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of striated muscle contraction", "id": "GO:0045988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045988", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of type 2 immune response", "id": "GO:0002829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002829", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071641", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of chemokine (C-C motif) ligand 4 production", "id": "GO:0071644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071644", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of chemokine (C-C motif) ligand 5 production", "id": "GO:0071650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071650", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of defense response to bacterium", "id": "GO:1900425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900425", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species biosynthetic process", "id": "GO:1903426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903426", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of activated CD8-positive, alpha-beta T cell apoptotic process", "id": "GO:1905403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905403", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of CD4-positive, alpha-beta T cell proliferation", "id": "GO:2000562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000562", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "negative regulation of interleukin-13 production", "id": "GO:0032696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032696", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "regulation of L-arginine import across plasma membrane", "id": "GO:1905541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905541", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" } ], "molecular_function": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" }, { "name": "arginase activity", "id": "GO:0004053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004053", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08691-1", "start_pos": "160", "end_pos": "160", "site_lbl": "His160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "F", "comment": "Catalytically inactive; defective in promoting NOS3/eNOS-uncoupling in endothelial cells.", "evidence": [ { "database": "UniProtKB", "id": "O08691", "url": "https://www.uniprot.org/uniprotkb/O08691" } ] } ] } ], "record_id": "O08691-1" }, { "uniprot_canonical_ac": "P86044-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 747, "chemical_mass": 87180.0, "gene_names": "Ano9;5430425C04Rik;Ano9;Tmem16j;Tp53i5;Trp53i5", "protein_name": "Anoctamin-9", "disease": [], "molecular_function": [ { "name": "chloride channel inhibitor activity", "id": "GO:0019869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019869", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "intracellularly calcium-gated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "calcium activated phosphatidylserine scrambling", "id": "GO:0061589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061589", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "calcium activated phosphatidylcholine scrambling", "id": "GO:0061590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061590", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" }, { "name": "calcium activated galactosylceramide scrambling", "id": "GO:0061591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061591", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P86044-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Asn630", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 630, "start_aa": "Asn", "end_pos": 630, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn630", "evidence": [ { "id": "P86044", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P86044#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P86044-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Asn643", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 643, "start_aa": "Asn", "end_pos": 643, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn643", "evidence": [ { "id": "P86044", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P86044#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P86044-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Asn665", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "evidence": [ { "id": "P86044", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P86044#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P86044-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Asn681", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 681, "start_aa": "Asn", "end_pos": 681, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn681", "evidence": [ { "id": "P86044", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P86044#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "7", "chr_pos": "140682233", "evidence": [ { "id": "rs3388958512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958512" } ] } ] }, { "uniprot_canonical_ac": "P86044-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of activation of its channel activity by cAMP-dependent protein kinase A (PKA).", "evidence": [ { "database": "UniProtKB", "id": "P86044", "url": "https://www.uniprot.org/uniprotkb/P86044" }, { "database": "PubMed", "id": "36330924", "url": "https://glygen.org/publication/PubMed/36330924" } ] } ] } ], "record_id": "P86044-1" }, { "uniprot_canonical_ac": "P97793-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1621, "chemical_mass": 174948.0, "gene_names": "Alk;Alk;CD246;Tcrz", "protein_name": "ALK tyrosine kinase receptor", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "receptor signaling protein tyrosine kinase activator activity", "id": "GO:0030298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030298", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "regulation of dopamine receptor signaling pathway", "id": "GO:0060159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060159", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "response to environmental enrichment", "id": "GO:0090648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090648", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97793-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Thr1030", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1030, "start_aa": "Thr", "end_pos": 1030, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1030", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "17", "chr_pos": "72206261", "evidence": [ { "id": "rs3553399116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553399116" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Asn248", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 248, "start_aa": "Asn", "end_pos": 248, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn248", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Asn289", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 289, "start_aa": "Asn", "end_pos": 289, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn289", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Asn328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23505EP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSFLLLNTSADSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "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" } ] }, { "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": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Thr384", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 384, "start_aa": "Thr", "end_pos": 384, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr384", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Asn415", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VALEYISSGNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 415, "start_aa": "Asn", "end_pos": 415, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn415", "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" } ] }, { "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": 415, "start_aa": "Asn", "end_pos": 415, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn415", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G57776ZU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLSAVDFFALKNCSEGTSPGSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "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" } ] }, { "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": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Asn449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 449, "start_aa": "Asn", "end_pos": 449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn449", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Asn567", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNVSLVLVENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 567, "start_aa": "Asn", "end_pos": 567, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn567", "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" } ] }, { "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": 567, "start_aa": "Asn", "end_pos": 567, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn567", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Asn575", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41978TW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNVSLVLVENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 575, "start_aa": "Asn", "end_pos": 575, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn575", "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" } ] }, { "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": 575, "start_aa": "Asn", "end_pos": 575, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn575", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Asn631", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Asn673", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 673, "start_aa": "Asn", "end_pos": 673, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn673", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Thr678", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 678, "start_aa": "Thr", "end_pos": 678, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr678", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Asn713", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 713, "start_aa": "Asn", "end_pos": 713, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn713", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Asn812", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 812, "start_aa": "Asn", "end_pos": 812, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn812", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Asn868", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 868, "start_aa": "Asn", "end_pos": 868, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn868", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Asn890", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 890, "start_aa": "Asn", "end_pos": 890, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn890", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "990", "end_pos": "990", "site_lbl": "Asn990", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 990, "start_aa": "Asn", "end_pos": 990, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn990", "evidence": [ { "id": "P97793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97793#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1082", "end_pos": "1082", "site_lbl": "Tyr1082", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1096", "end_pos": "1096", "site_lbl": "Tyr1096", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" }, { "database": "PubMed", "id": "16878150", "url": "https://glygen.org/publication/PubMed/16878150" }, { "database": "iPTMnet", "id": "P97793", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Tyr1100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Tyr1135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1282", "end_pos": "1282", "site_lbl": "Tyr1282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1516", "end_pos": "1516", "site_lbl": "Tyr1516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97793", "url": "https://www.uniprot.org/uniprotkb/P97793" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1237", "end_pos": "1237", "site_lbl": "Ile1237", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IAC->NAC).", "chr_id": "17", "chr_pos": "72198005", "evidence": [ { "id": "rs3389491718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491718" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "1526", "end_pos": "1526", "site_lbl": "Lys1526", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "17", "chr_pos": "72176725", "evidence": [ { "id": "rs3407888423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407888423" } ] } ] }, { "uniprot_canonical_ac": "P97793-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Ser715", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "17", "chr_pos": "72228919", "evidence": [ { "id": "rs3389457343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389457343" } ] } ] } ], "record_id": "P97793-1" }, { "uniprot_canonical_ac": "Q3TSG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 44411.0, "gene_names": "Alkbh5;Abh5;Alkbh5;E130207K11;Ofoxd", "protein_name": "RNA demethylase ALKBH5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "paraspeckles", "id": "GO:0042382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042382", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "regulation of mRNA export from nucleus", "id": "GO:0010793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010793", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "regulation of mRNA processing", "id": "GO:0050684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050684", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "gamma-delta T cell proliferation", "id": "GO:0046630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046630", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "2-oxoglutarate-dependent dioxygenase activity", "id": "GO:0016706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016706", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "oxidative RNA demethylase activity", "id": "GO:0035515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035515", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "mRNA N6-methyladenosine dioxygenase activity", "id": "GO:1990931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990931", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" }, { "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": "Q3TSG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q3TSG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" }, { "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": "Q3TSG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TSG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Tyr72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ] } ] }, { "uniprot_canonical_ac": "Q3TSG4-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TSG4", "url": "https://www.uniprot.org/uniprotkb/Q3TSG4" } ] } ] } ], "record_id": "Q3TSG4-1" }, { "uniprot_canonical_ac": "Q91XC0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 547, "chemical_mass": 57920.0, "gene_names": "Ajuba;Ajuba;Jub", "protein_name": "LIM domain-containing protein ajuba", "disease": [], "biological_process": [ { "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": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "glycerophospholipid biosynthetic process", "id": "GO:0046474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046474", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "positive regulation of kinase activity", "id": "GO:0033674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033674", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "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": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by inhibition of translation", "id": "GO:0035278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035278", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "negative regulation of kinase activity", "id": "GO:0033673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "miRNA-mediated post-transcriptional gene silencing", "id": "GO:0035195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035195", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "regulation of cellular response to hypoxia", "id": "GO:1900037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900037", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "positive regulation of biosynthetic process", "id": "GO:0009891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009891", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "alpha-catenin binding", "id": "GO:0045294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045294", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Thr123", "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": 123, "start_aa": "Thr", "end_pos": 123, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr123", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q91XC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91XC0" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q91XC0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q91XC0" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 40, "start_aa": "Thr", "end_pos": 40, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr40", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ] } ] }, { "uniprot_canonical_ac": "Q91XC0-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XC0", "url": "https://www.uniprot.org/uniprotkb/Q91XC0" } ] } ] } ], "record_id": "Q91XC0-1" }, { "uniprot_canonical_ac": "Q924C5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1680, "chemical_mass": 180115.0, "gene_names": "Alpk3;Alpk3;D330016D04;Kiaa1330;MAK;Midori;mKIAA1330", "protein_name": "Alpha-protein kinase 3", "disease": [ { "disease_id": "DOID:0061102", "name": "hypertrophic cardiomyopathy 27", "description": "A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25.", "url": "https://disease-ontology.org/term/DOID:0061102", "evidence": [ { "id": "0061102", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061102" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Thr1066", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1066, "start_aa": "Thr", "end_pos": 1066, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1066", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Thr1184", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1184, "start_aa": "Thr", "end_pos": 1184, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1184", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Thr424", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 424, "start_aa": "Thr", "end_pos": 424, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr424", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "1199", "end_pos": "1199", "site_lbl": "Ser1199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q924C5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q924C5" } ] } ] }, { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924C5", "url": "https://www.uniprot.org/uniprotkb/Q924C5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q924C5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q924C5" } ] } ] }, { "uniprot_canonical_ac": "Q924C5-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Asp596", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "7", "chr_pos": "80741970", "evidence": [ { "id": "rs244734272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244734272" } ] } ] } ], "record_id": "Q924C5-1" }, { "uniprot_canonical_ac": "Q9R182-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 455, "chemical_mass": 52543.0, "gene_names": "Angptl3;Angptl3;hypl", "protein_name": "Angiopoietin-related protein 3", "disease": [ { "disease_id": "DOID:0111061", "name": "familial hypobetalipoproteinemia 2", "description": "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0111061", "evidence": [ { "id": "0111061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111061" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of lipid metabolic process", "id": "GO:0045834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045834", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "phospholipid catabolic process", "id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "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": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "positive regulation of lipid catabolic process", "id": "GO:0050996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050996", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "acylglycerol homeostasis", "id": "GO:0055090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055090", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "regulation of chylomicron remodeling", "id": "GO:0090318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090318", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "lipase inhibitor activity", "id": "GO:0055102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055102", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "lipase binding", "id": "GO:0035473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035473", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "phospholipase inhibitor activity", "id": "GO:0004859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004859", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Asn115", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "Q9R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R182#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 226, "start_aa": "Thr", "end_pos": 226, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr226", "evidence": [ { "id": "Q9R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R182#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Asn232", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 232, "start_aa": "Asn", "end_pos": 232, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn232", "evidence": [ { "id": "Q9R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R182#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asn296", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 296, "start_aa": "Asn", "end_pos": 296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn296", "evidence": [ { "id": "Q9R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R182#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Asn357", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 357, "start_aa": "Asn", "end_pos": 357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn357", "evidence": [ { "id": "Q9R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R182#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->YYT).", "chr_id": "4", "chr_pos": "98925744", "evidence": [ { "id": "rs3388682869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388682869" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Arg221", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes proteolytical cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" }, { "database": "PubMed", "id": "23918928", "url": "https://glygen.org/publication/PubMed/23918928" }, { "database": "PubMed", "id": "20581395", "url": "https://glygen.org/publication/PubMed/20581395" } ] } ] }, { "uniprot_canonical_ac": "Q9R182-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Arg224", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes proteolytical cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q9R182", "url": "https://www.uniprot.org/uniprotkb/Q9R182" }, { "database": "PubMed", "id": "23918928", "url": "https://glygen.org/publication/PubMed/23918928" } ] } ] } ], "record_id": "Q9R182-1" }, { "uniprot_canonical_ac": "A0A0B4J1F4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 44970.0, "gene_names": "Arrdc4;2410003C09Rik;Arrdc4", "protein_name": "Arrestin domain-containing protein 4", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-protein transferase activity", "id": "GO:0051443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051443", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" }, { "name": "extracellular vesicle biogenesis", "id": "GO:0140112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140112", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A0B4J1F4-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Phe115", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Loss of localization to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1F4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1F4" }, { "database": "PubMed", "id": "27462458", "url": "https://glygen.org/publication/PubMed/27462458" } ] } ] } ], "record_id": "A0A0B4J1F4-1" }, { "uniprot_canonical_ac": "Q64430-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1491, "chemical_mass": 161959.0, "gene_names": "Atp7a;Atp7a;MNK;Mnk", "protein_name": "Copper-transporting ATPase 1", "disease": [ { "disease_id": "DOID:0111196", "name": "X-linked distal spinal muscular atrophy 3", "description": "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.", "url": "https://disease-ontology.org/term/DOID:0111196", "evidence": [ { "id": "0111196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111196" } ], "weight": 0.0 }, { "disease_id": "DOID:0111272", "name": "occipital horn syndrome", "description": "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.", "url": "https://disease-ontology.org/term/DOID:0111272", "evidence": [ { "id": "0111272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111272" } ], "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:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:1838", "name": "Menkes disease", "description": "", "url": "https://disease-ontology.org/term/DOID:1838", "evidence": [ { "id": "1838", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1838" } ], "weight": 0.0 }, { "disease_id": "DOID:3144", "name": "cutis laxa", "description": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.", "url": "https://disease-ontology.org/term/DOID:3144", "evidence": [ { "id": "3144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3144" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:896", "name": "metal metabolism disorder", "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.", "url": "https://disease-ontology.org/term/DOID:896", "evidence": [ { "id": "896", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:896" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper ion transmembrane transporter activity", "id": "GO:0005375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005375", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "superoxide dismutase copper chaperone activity", "id": "GO:0016532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016532", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper-dependent protein binding", "id": "GO:0032767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032767", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cuprous ion binding", "id": "GO:1903136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903136", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "P-type divalent copper transporter activity", "id": "GO:0043682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043682", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "P-type monovalent copper transporter activity", "id": "GO:0140581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140581", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "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": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "serotonin metabolic process", "id": "GO:0042428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042428", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "catecholamine metabolic process", "id": "GO:0006584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006584", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "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": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "L-tryptophan metabolic process", "id": "GO:0006568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006568", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper ion transport", "id": "GO:0006825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006825", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "detoxification of copper ion", "id": "GO:0010273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010273", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper ion import", "id": "GO:0015677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015677", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "peptidyl-lysine modification", "id": "GO:0018205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018205", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell differentiation", "id": "GO:0021702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021702", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "pyramidal neuron development", "id": "GO:0021860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021860", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "negative regulation of iron ion transmembrane transport", "id": "GO:0034760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034760", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "T-helper cell differentiation", "id": "GO:0042093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042093", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "epinephrine metabolic process", "id": "GO:0042414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042414", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "copper ion export", "id": "GO:0060003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060003", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of response to wounding", "id": "GO:1903036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903036", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "regulation of cytochrome-c oxidase activity", "id": "GO:1904959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904959", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of melanin biosynthetic process", "id": "GO:0048023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048023", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of cytochrome-c oxidase activity", "id": "GO:1904960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904960", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "norepinephrine biosynthetic process", "id": "GO:0042421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042421", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "positive regulation of superoxide dismutase activity", "id": "GO:1901671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901671", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" }, { "name": "tyrosine metabolic process", "id": "GO:0006570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006570", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Asn1135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59324HL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NASLVQIDAINEQSSTSSSMIIDAHLSNAVNTQQYKVLIGNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1135, "start_aa": "Asn", "end_pos": 1135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1135", "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": "Q64430-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Asn322", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YNASLVTPEMLRK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 322, "start_aa": "Asn", "end_pos": 322, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn322", "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": "Q64430-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Asn677", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 677, "start_aa": "Asn", "end_pos": 677, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn677", "evidence": [ { "id": "Q64430", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64430#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Asn966", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 966, "start_aa": "Asn", "end_pos": 966, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn966", "evidence": [ { "id": "Q64430", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64430#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Thr1203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1421", "end_pos": "1421", "site_lbl": "Ser1421", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1423", "end_pos": "1423", "site_lbl": "Ser1423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Ser1451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1454", "end_pos": "1454", "site_lbl": "Ser1454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1457", "end_pos": "1457", "site_lbl": "Ser1457", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1460", "end_pos": "1460", "site_lbl": "Ser1460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1464", "end_pos": "1464", "site_lbl": "Ser1464", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Ser1467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Ser1477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Thr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Thr327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ser339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] }, { "uniprot_canonical_ac": "Q64430-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64430", "url": "https://www.uniprot.org/uniprotkb/Q64430" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64430", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64430" } ] } ] } ], "record_id": "Q64430-1" }, { "uniprot_canonical_ac": "E9Q4N7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2306, "chemical_mass": 242882.0, "gene_names": "Arid1b;8030481M12;9330189K18Rik;Ardi1b;Arid1b;B230217J03Rik;BAF250B;Baf250b;mKIAA1235", "protein_name": "AT-rich interactive domain-containing protein 1B", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0070042", "name": "Coffin-Siris syndrome 1", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.", "url": "https://disease-ontology.org/term/DOID:0070042", "evidence": [ { "id": "0070042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070042" } ], "weight": 0.0 }, { "disease_id": "DOID:0070044", "name": "Coffin-Siris syndrome 2", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.", "url": "https://disease-ontology.org/term/DOID:0070044", "evidence": [ { "id": "0070044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070044" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.", "url": "https://disease-ontology.org/term/DOID:1925", "evidence": [ { "id": "1925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1925" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "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": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "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": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "neuron-neuron synaptic transmission", "id": "GO:0007270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007270", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "dendritic cell dendrite assembly", "id": "GO:0097026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097026", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "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": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1062", "end_pos": "1062", "site_lbl": "Thr1062", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1062, "start_aa": "Thr", "end_pos": 1062, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1062", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1643", "end_pos": "1643", "site_lbl": "Thr1643", "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": 1643, "start_aa": "Thr", "end_pos": 1643, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1643", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q4N7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q4N7" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "2126", "end_pos": "2126", "site_lbl": "Thr2126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2126, "start_aa": "Thr", "end_pos": 2126, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2126", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Thr492", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 492, "start_aa": "Thr", "end_pos": 492, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr492", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Thr583", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 583, "start_aa": "Thr", "end_pos": 583, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr583", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1612", "end_pos": "1612", "site_lbl": "Ser1612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1625", "end_pos": "1625", "site_lbl": "Ser1625", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4N7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Ser1629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Ser1785", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Ser576", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ser590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprotkb/E9Q4N7" } ] } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "start_pos": "1067", "end_pos": "1067", "site_lbl": "Pro1067", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "17", "chr_pos": "5387349", "evidence": [ { "id": "rs3389345479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389345479" } ] } ] } ], "record_id": "E9Q4N7-1" }, { "uniprot_canonical_ac": "E9Q7D5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1581, "chemical_mass": 176664.0, "gene_names": "Arhgef5;2210412D05Rik;Arhgef5;Tim1", "protein_name": "Rho guanine nucleotide exchange factor 5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of protein import", "id": "GO:1904591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904591", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "myeloid dendritic cell chemotaxis", "id": "GO:0002408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002408", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "positive regulation of JUN kinase activity", "id": "GO:0043507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043507", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "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": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Thr499", "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": 499, "start_aa": "Thr", "end_pos": 499, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr499", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "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": 500, "start_aa": "Ser", "end_pos": 500, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser500", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "E9Q7D5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7D5" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Thr569", "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": 569, "start_aa": "Thr", "end_pos": 569, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr569", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Asn784", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36379GD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PLPSTPESPNHTQTSIPSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 784, "start_aa": "Asn", "end_pos": 784, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn784", "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": "E9Q7D5-1", "start_pos": "803", "end_pos": "803", "site_lbl": "Thr803", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 803, "start_aa": "Thr", "end_pos": 803, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr803", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "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": 859, "start_aa": "Ser", "end_pos": 859, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser859", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "E9Q7D5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7D5" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Thr898", "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": 898, "start_aa": "Thr", "end_pos": 898, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr898", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "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": 899, "start_aa": "Ser", "end_pos": 899, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser899", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "E9Q7D5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ser1029", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Ser1110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q7D5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "953", "end_pos": "953", "site_lbl": "Ser953", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q7D5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ser969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7D5", "url": "https://www.uniprot.org/uniprotkb/E9Q7D5" } ] } ] }, { "uniprot_canonical_ac": "E9Q7D5-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Lys561", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "6", "chr_pos": "43250933", "evidence": [ { "id": "rs3388807358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807358" } ] } ] } ], "record_id": "E9Q7D5-1" }, { "uniprot_canonical_ac": "P58242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 51600.0, "gene_names": "Smpdl3b;1110054A24Rik;Asml3b;Smpdl3b", "protein_name": "Acid sphingomyelinase-like phosphodiesterase 3b", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "sphingomyelin catabolic process", "id": "GO:0006685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006685", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "membrane lipid catabolic process", "id": "GO:0046466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046466", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "sphingomyelin phosphodiesterase activity", "id": "GO:0004767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004767", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" }, { "name": "hydrolase activity, acting on glycosyl bonds", "id": "GO:0016798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016798", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58242-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "P58242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58242#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58242-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Asn164", "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": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "P58242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58242#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P58242-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WLGDVLSNASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "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" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2104", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2104" } ] }, { "glytoucan_ac": "G22768VO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5KAR&bu=0&command=select+.A:223;+center+selection;+zoom+selection" }, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "5KAR", "database": "PDB", "url": "https://www.rcsb.org/structure/5KAR" }, { "id": "5KAR", "database": "PDB", "url": "https://www.rcsb.org/structure/5KAR" }, { "id": "5KAR|A|223", "database": "", "url": "" } ] }, { "glytoucan_ac": "G81315DD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5KAS&bu=0&command=select+.A:223;+center+selection;+zoom+selection" }, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "5KAS", "database": "PDB", "url": "https://www.rcsb.org/structure/5KAS" }, { "id": "5KAS", "database": "PDB", "url": "https://www.rcsb.org/structure/5KAS" }, { "id": "5KAS|A|223", "database": "", "url": "" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9K2E&bu=0&command=select+.B:223;+center+selection;+zoom+selection" }, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "P58242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58242#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" }, { "id": "27687724", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27687724" }, { "id": "5KAS", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAS" }, { "id": "5KAR", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAR" }, { "id": "9K2E", "database": "PDB", "url": "https://www.rcsb.org/structure/9K2E" }, { "id": "9K2E", "database": "PDB", "url": "https://www.rcsb.org/structure/9K2E" }, { "id": "9K2E|B|223", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P58242-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asn34", "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": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "P58242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58242#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" }, { "id": "27687724", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27687724" }, { "id": "5KAS", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAS" }, { "id": "5KAR", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAR" } ] } ] }, { "uniprot_canonical_ac": "P58242-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9K2E&bu=0&command=select+.B:72;+center+selection;+zoom+selection" }, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "P58242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58242#ptm_processing" }, { "id": "27687724", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27687724" }, { "id": "5KAS", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAS" }, { "id": "5KAR", "database": "PDB", "url": "https://www.rcsb.org/sequence/5KAR" }, { "id": "9K2E", "database": "PDB", "url": "https://www.rcsb.org/structure/9K2E" }, { "id": "9K2E", "database": "PDB", "url": "https://www.rcsb.org/structure/9K2E" }, { "id": "9K2E|B|72", "database": "", "url": "" }, { "id": "9K2E|A|72", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P58242-1", "start_pos": "135", "end_pos": "135", "site_lbl": "His135", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced phosphodiesterase activity. Decreases inhibition of innate immune responses.", "evidence": [ { "database": "UniProtKB", "id": "P58242", "url": "https://www.uniprot.org/uniprotkb/P58242" }, { "database": "PubMed", "id": "26095358", "url": "https://glygen.org/publication/PubMed/26095358" }, { "database": "PubMed", "id": "27687724", "url": "https://glygen.org/publication/PubMed/27687724" } ] } ] } ], "record_id": "P58242-1" }, { "uniprot_canonical_ac": "Q02067-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 231, "chemical_mass": 24741.0, "gene_names": "Ascl1;ASH1;Ascl1;Ash1;Mash-1;Mash1;bHLHa46", "protein_name": "Achaete-scute homolog 1", "disease": [ { "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: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 } ], "biological_process": [ { "name": "forebrain neuron differentiation", "id": "GO:0021879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021879", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "parasympathetic nervous system development", "id": "GO:0048486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048486", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "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": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "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": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "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": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "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": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "olfactory pit development", "id": "GO:0060166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060166", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "noradrenergic neuron development", "id": "GO:0003358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003358", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "noradrenergic neuron fate commitment", "id": "GO:0003359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003359", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuroblast fate determination", "id": "GO:0007400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007400", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "spinal cord oligodendrocyte cell fate specification", "id": "GO:0021530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021530", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "vestibular nucleus development", "id": "GO:0021750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021750", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "cerebral cortex GABAergic interneuron differentiation", "id": "GO:0021892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021892", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "commitment of neuronal cell to specific neuron type in forebrain", "id": "GO:0021902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021902", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "musculoskeletal movement, spinal reflex action", "id": "GO:0050883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050883", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "subpallium neuron fate commitment", "id": "GO:0060163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060163", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of timing of subpallium neuron differentiation", "id": "GO:0060165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060165", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron fate commitment", "id": "GO:0060579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060579", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "lung neuroendocrine cell differentiation", "id": "GO:0061100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061100", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "stomach neuroendocrine cell differentiation", "id": "GO:0061102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061102", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "carotid body glomus cell differentiation", "id": "GO:0061103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061103", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "adrenal chromaffin cell differentiation", "id": "GO:0061104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061104", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "sympathetic ganglion development", "id": "GO:0061549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061549", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "response to epidermal growth factor", "id": "GO:0070849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070849", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "cellular response to magnetism", "id": "GO:0071259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071259", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "spinal cord oligodendrocyte cell differentiation", "id": "GO:0021529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021529", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "oligodendrocyte cell fate commitment", "id": "GO:0021779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021779", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "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": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q02067", "url": "https://www.uniprot.org/uniprotkb/Q02067" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q02067-1" }, { "uniprot_canonical_ac": "Q06507-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 349, "chemical_mass": 38355.0, "gene_names": "Atf4;Atf-4;Atf4;C/ATF;CREB-2;CREB2;Creb2;TAXREB67", "protein_name": "Cyclic AMP-dependent transcription factor ATF-4", "disease": [ { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:5453", "name": "pulmonary venoocclusive disease", "description": "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "url": "https://disease-ontology.org/term/DOID:5453", "evidence": [ { "id": "5453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5453" } ], "weight": 0.0 } ], "biological_process": [ { "name": "L-asparagine metabolic process", "id": "GO:0070982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070982", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "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": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "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": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "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": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "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": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "PERK-mediated unfolded protein response", "id": "GO:0036499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036499", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of biomineral tissue development", "id": "GO:0070169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070169", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "response to manganese-induced endoplasmic reticulum stress", "id": "GO:1990737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990737", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cellular response to leucine starvation", "id": "GO:1990253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990253", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of sodium-dependent phosphate transport", "id": "GO:2000120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000120", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "lens fiber cell morphogenesis", "id": "GO:0070309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070309", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "mitochondrial respirasome assembly", "id": "GO:0097250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097250", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell apoptotic process", "id": "GO:1905461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905461", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "integrated stress response signaling", "id": "GO:0140467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140467", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "HRI-mediated signaling", "id": "GO:0140468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140468", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "GDF15-GFRAL signaling pathway", "id": "GO:0160144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160144", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "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": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035497", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cAMP response element binding protein binding", "id": "GO:0008140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008140", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "general transcription initiation factor binding", "id": "GO:0140296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140296", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "ATF1-ATF4 transcription factor complex", "id": "GO:1990590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990590", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "Lewy body core", "id": "GO:1990037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990037", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "ATF4-CREB1 transcription factor complex", "id": "GO:1990589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990589", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "CHOP-ATF4 complex", "id": "GO:1990617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990617", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q06507-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Thr212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination; when associated with A-223; A-230; A-234 and A-247.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination; when associated with A-212; A-230; A-234 and A-247.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination; when associated with A-212; A-223; A-234 and A-247.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination; when associated with A-212; A-223; A-230 and A-247.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes stabilization due to impaired ubiquitination; when associated with A-212; A-223; A-230 and A-234. Does not affect phosphorylation by RPS6KA3/RSK2.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "23663782", "url": "https://glygen.org/publication/PubMed/23663782" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" }, { "database": "PubMed", "id": "24008080", "url": "https://glygen.org/publication/PubMed/24008080" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by RPS6KA3/RSK2.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Abolished phosphorylation by RPS6KA3/RSK2.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Abolished phosphorylation by RPS6KA3/RSK2.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" }, { "database": "PubMed", "id": "24008080", "url": "https://glygen.org/publication/PubMed/24008080" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by RPS6KA3/RSK2.", "evidence": [ { "database": "UniProtKB", "id": "Q06507", "url": "https://www.uniprot.org/uniprotkb/Q06507" }, { "database": "PubMed", "id": "15109498", "url": "https://glygen.org/publication/PubMed/15109498" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Thr2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" }, { "database": "PubMed", "id": "30209133", "url": "https://glygen.org/publication/PubMed/30209133" } ] } ] }, { "uniprot_canonical_ac": "Q06507-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q06507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06507" }, { "database": "PubMed", "id": "21203563", "url": "https://glygen.org/publication/PubMed/21203563" } ] } ] } ], "record_id": "Q06507-1" }, { "uniprot_canonical_ac": "Q09PK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 37174.0, "gene_names": "Asprv1;2300003P22Rik;Asprv1;SASPase;SASP;Sasp;Taps", "protein_name": "Retroviral-like aspartic protease 1", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" } ], "pmid": "" } ], "molecular_function": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q09PK2-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Asn274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "Q09PK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09PK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q09PK2-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q09PK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09PK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q09PK2-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asp210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes production of active form of enzyme.", "evidence": [ { "database": "UniProtKB", "id": "Q09PK2", "url": "https://www.uniprot.org/uniprotkb/Q09PK2" }, { "database": "PubMed", "id": "16837463", "url": "https://glygen.org/publication/PubMed/16837463" } ] } ] } ], "record_id": "Q09PK2-1" }, { "uniprot_canonical_ac": "Q5EBP3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 926, "chemical_mass": 96728.0, "gene_names": "Armc5;Armc5", "protein_name": "Armadillo repeat-containing protein 5", "disease": [ { "disease_id": "DOID:0111624", "name": "ACTH-independent macronodular adrenal hyperplasia 2", "description": "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0111624", "evidence": [ { "id": "0111624", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111624" } ], "weight": 0.0 } ], "biological_process": [ { "name": "CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043367", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "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": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "regulation of steroid biosynthetic process", "id": "GO:0050810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050810", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "SREBP signaling pathway", "id": "GO:0032933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032933", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "adrenal cortex development", "id": "GO:0035801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035801", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "Cul3-RING ubiquitin ligase complex", "id": "GO:0031463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031463", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5EBP3-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Thr102", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 102, "start_aa": "Thr", "end_pos": 102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr102", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5EBP3-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TDSIQNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "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": "Q5EBP3-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Thr489", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 489, "start_aa": "Thr", "end_pos": 489, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr489", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5EBP3-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Thr712", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 712, "start_aa": "Thr", "end_pos": 712, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr712", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5EBP3-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EBP3", "url": "https://www.uniprot.org/uniprotkb/Q5EBP3" } ] } ] } ], "record_id": "Q5EBP3-1" }, { "uniprot_canonical_ac": "Q6A058-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6A058", "url": "https://www.uniprot.org/uniprotkb/Q6A058" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 784, "chemical_mass": 81036.0, "gene_names": "Armcx2;3230401N03Rik;ALEX2;Armcx2;Kiaa0512", "protein_name": "Armadillo repeat-containing X-linked protein 2", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6A058", "url": "https://www.uniprot.org/uniprotkb/Q6A058" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q6A058", "url": "https://www.uniprot.org/uniprotkb/Q6A058" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q6A058", "url": "https://www.uniprot.org/uniprotkb/Q6A058" } ], "pmid": "" } ], "biological_process": [ { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q6A058", "url": "https://www.uniprot.org/uniprotkb/Q6A058" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Thr150", "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": 150, "start_aa": "Thr", "end_pos": 150, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q6A058", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6A058" } ] } ] }, { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 182, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr182", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "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": 323, "start_aa": "Ser", "end_pos": 323, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser323", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6A058", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6A058" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q6A058", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6A058" } ] } ] }, { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "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": 328, "start_aa": "Thr", "end_pos": 328, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr328", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6A058", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6A058" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q6A058", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6A058" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Thr366", "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": 366, "start_aa": "Thr", "end_pos": 366, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr366", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q6A058", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6A058" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q6A058", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6A058" } ] } ] }, { "uniprot_canonical_ac": "Q6A058-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Asn606", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALMAMNNLSENYENQGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 606, "start_aa": "Asn", "end_pos": 606, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn606", "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": "Q6A058-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "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": 93, "start_aa": "Thr", "end_pos": 93, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr93", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6A058", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6A058" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] } ], "record_id": "Q6A058-1" }, { "uniprot_canonical_ac": "Q6VUP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 442, "chemical_mass": 46283.0, "gene_names": "Tfap2e;AP-2e;Tcfap2e;Tfap2e", "protein_name": "Transcription factor AP-2-epsilon", "disease": [ { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "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": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "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": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6VUP9-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6VUP9", "url": "https://www.uniprot.org/uniprotkb/Q6VUP9" } ] } ] } ], "record_id": "Q6VUP9-1" }, { "uniprot_canonical_ac": "Q8C142-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 308, "chemical_mass": 33975.0, "gene_names": "Ldlrap1;ARH2;Arh1;Arh;FHCB1;FHCB2;Ldlrap1", "protein_name": "Low density lipoprotein receptor adapter protein 1", "disease": [ { "disease_id": "DOID:0090105", "name": "autosomal recessive hypercholesterolemia", "description": "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0090105", "evidence": [ { "id": "0090105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090105" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "AP-2 adaptor complex binding", "id": "GO:0035612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035612", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "AP-1 adaptor complex binding", "id": "GO:0035650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035650", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" } ], "biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:1905602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905602", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "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": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:0090118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090118", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C142-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Asn243", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PQVLGNNSVVWELDDGLDEAFSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "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": "Q8C142-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ] } ] }, { "uniprot_canonical_ac": "Q8C142-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Ser198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" } ] } ] }, { "uniprot_canonical_ac": "Q8C142-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C142", "url": "https://www.uniprot.org/uniprotkb/Q8C142" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C142", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C142" } ] } ] } ], "record_id": "Q8C142-1" }, { "uniprot_canonical_ac": "Q8CG76-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 367, "chemical_mass": 40612.0, "gene_names": "Akr7a2;0610025K21Rik;Afar1;Afar;Akr7a2;Akr7a5", "protein_name": "Aflatoxin B1 aldehyde reductase member 2", "disease": [ { "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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" } ], "molecular_function": [ { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CG76-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CG76", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CG76" } ] } ] }, { "uniprot_canonical_ac": "Q8CG76-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CG76", "url": "https://www.uniprot.org/uniprotkb/Q8CG76" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CG76", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CG76" } ] } ] } ], "record_id": "Q8CG76-1" }, { "uniprot_canonical_ac": "Q8CJ27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3122, "chemical_mass": 364218.0, "gene_names": "Aspm;Aspm;Calmbp1;D330028K02Rik;MCPH5;Sha1", "protein_name": "Abnormal spindle-like microcephaly-associated protein homolog", "disease": [ { "disease_id": "DOID:0070280", "name": "primary autosomal recessive microcephaly 5", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.", "url": "https://disease-ontology.org/term/DOID:0070280", "evidence": [ { "id": "0070280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070280" } ], "weight": 0.0 }, { "disease_id": "DOID:0070296", "name": "autosomal recessive primary microcephaly", "description": "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.", "url": "https://disease-ontology.org/term/DOID:0070296", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "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: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: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 } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "microtubule minus-end", "id": "GO:0036449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036449", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "meiotic spindle", "id": "GO:0072687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072687", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "maintenance of centrosome location", "id": "GO:0051661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051661", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "spindle localization", "id": "GO:0051653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051653", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "forebrain neuroblast division", "id": "GO:0021873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021873", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "negative regulation of asymmetric cell division", "id": "GO:0045769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045769", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "regulation of meiotic cell cycle", "id": "GO:0051445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051445", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "meiotic spindle assembly", "id": "GO:0090306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090306", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Thr578", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 578, "start_aa": "Thr", "end_pos": 578, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr578", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "1071", "end_pos": "1071", "site_lbl": "Ser1071", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "2975", "end_pos": "2975", "site_lbl": "Asp2975", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "1", "chr_pos": "139419259", "evidence": [ { "id": "rs3388502829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388502829" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ala395", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "1", "chr_pos": "139385540", "evidence": [ { "id": "rs223757577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223757577" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "452", "end_pos": "452", "site_lbl": "His452", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HQS->NQS).", "chr_id": "1", "chr_pos": "139385711", "evidence": [ { "id": "rs30922158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30922158" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "546", "end_pos": "546", "site_lbl": "His546", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HGT->NGT).", "chr_id": "1", "chr_pos": "139385993", "evidence": [ { "id": "rs258455370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258455370" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Phe302", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Disrupts interaction with KATNA1:KATNB1; when associated with A-377.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" }, { "database": "PubMed", "id": "28436967", "url": "https://glygen.org/publication/PubMed/28436967" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Phe352", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Disrupts interaction with KATNA1:KATNB1.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" }, { "database": "PubMed", "id": "28436967", "url": "https://glygen.org/publication/PubMed/28436967" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Phe377", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Disrupts interaction with KATNA1:KATNB1; when associated with A-302.", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ27", "url": "https://www.uniprot.org/uniprotkb/Q8CJ27" }, { "database": "PubMed", "id": "28436967", "url": "https://glygen.org/publication/PubMed/28436967" } ] } ] } ], "record_id": "Q8CJ27-1" }, { "uniprot_canonical_ac": "Q8K3A6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 33321.0, "gene_names": "Armcx6;Armcx6", "protein_name": "Protein ARMCX6", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "pmid": "" } ], "biological_process": [ { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A6", "url": "https://www.uniprot.org/uniprotkb/Q8K3A6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K3A6-1" }, { "uniprot_canonical_ac": "Q9CQY1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 141, "chemical_mass": 15207.0, "gene_names": "Atg12;4931423H11Rik;A330058M13Rik;Apg12l;Apg12;Atg12l;Atg12", "protein_name": "Ubiquitin-like protein ATG12", "disease": [ { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "positive regulation of viral translation", "id": "GO:1904973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904973", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "negative regulation of defense response to virus", "id": "GO:0050687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050687", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "regulation of autophagosome maturation", "id": "GO:1901096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901096", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "Atg12-Atg5-Atg16 complex", "id": "GO:0034274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034274", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tag activity", "id": "GO:0031386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031386", "evidence": [ { "database": "UniProtKB", "id": "Q9CQY1", "url": "https://www.uniprot.org/uniprotkb/Q9CQY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQY1-1" }, { "uniprot_canonical_ac": "Q9D7A8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 282, "chemical_mass": 31247.0, "gene_names": "Armc1;2310016N05Rik;2900046P06Rik;3110009G21Rik;Arcp;Armc1;C330014L16Rik", "protein_name": "Armadillo repeat-containing protein 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D7A8-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ] } ] }, { "uniprot_canonical_ac": "Q9D7A8-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ] } ] }, { "uniprot_canonical_ac": "Q9D7A8-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D7A8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D7A8" } ] } ] }, { "uniprot_canonical_ac": "Q9D7A8-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" } ] } ] }, { "uniprot_canonical_ac": "Q9D7A8-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D7A8", "url": "https://www.uniprot.org/uniprotkb/Q9D7A8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D7A8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D7A8" } ] } ] } ], "record_id": "Q9D7A8-1" }, { "uniprot_canonical_ac": "P35569-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1233, "chemical_mass": 130723.0, "gene_names": "Irs1;G972R;IRS-1;Irs-1;Irs1", "protein_name": "Insulin receptor substrate 1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "epithelial cell migration", "id": "GO:0010631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010631", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of glucose metabolic process", "id": "GO:0010907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010907", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "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": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "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": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "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": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of glucagon secretion", "id": "GO:0070094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070094", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "negative regulation of somatostatin secretion", "id": "GO:0090275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090275", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase adaptor activity", "id": "GO:0005068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005068", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase activator activity", "id": "GO:0141038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141038", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" }, { "name": "insulin receptor complex", "id": "GO:0005899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005899", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35569-1", "start_pos": "1078", "end_pos": "1078", "site_lbl": "Asn1078", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNLSPNHNQSAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1078, "start_aa": "Asn", "end_pos": 1078, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1078", "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": "P35569-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Asn365", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LHPPLNHSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "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": "P35569-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Ser966", "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": 966, "start_aa": "Ser", "end_pos": 966, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser966", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P35569", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "1096", "end_pos": "1096", "site_lbl": "Ser1096", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "1097", "end_pos": "1097", "site_lbl": "Ser1097", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q02111-1", "kinase_gene_name": "Prkcq", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15364919", "url": "https://glygen.org/publication/PubMed/15364919" } ] }, { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15306821", "url": "https://glygen.org/publication/PubMed/15306821" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "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": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "22418434", "url": "https://glygen.org/publication/PubMed/22418434" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "1101", "end_pos": "1101", "site_lbl": "Ser1101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "17709744", "url": "https://glygen.org/publication/PubMed/17709744" }, { "database": "PubMed", "id": "20921627", "url": "https://glygen.org/publication/PubMed/20921627" }, { "database": "PubMed", "id": "26474286", "url": "https://glygen.org/publication/PubMed/26474286" }, { "database": "PubMed", "id": "27872488", "url": "https://glygen.org/publication/PubMed/27872488" }, { "database": "PubMed", "id": "29496905", "url": "https://glygen.org/publication/PubMed/29496905" }, { "database": "PubMed", "id": "32998286", "url": "https://glygen.org/publication/PubMed/32998286" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "1173", "end_pos": "1173", "site_lbl": "Tyr1173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Tyr1220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q62406-1", "kinase_gene_name": "Irak1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15849359", "url": "https://glygen.org/publication/PubMed/15849359" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "19675138", "url": "https://glygen.org/publication/PubMed/19675138" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15306821", "url": "https://glygen.org/publication/PubMed/15306821" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "25381390", "url": "https://glygen.org/publication/PubMed/25381390" }, { "database": "PubMed", "id": "29364220", "url": "https://glygen.org/publication/PubMed/29364220" }, { "database": "PubMed", "id": "30050584", "url": "https://glygen.org/publication/PubMed/30050584" }, { "database": "PubMed", "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "12417588", "url": "https://glygen.org/publication/PubMed/12417588" }, { "database": "PubMed", "id": "12714600", "url": "https://glygen.org/publication/PubMed/12714600" }, { "database": "PubMed", "id": "14579029", "url": "https://glygen.org/publication/PubMed/14579029" }, { "database": "PubMed", "id": "14998989", "url": "https://glygen.org/publication/PubMed/14998989" }, { "database": "PubMed", "id": "15143153", "url": "https://glygen.org/publication/PubMed/15143153" }, { "database": "PubMed", "id": "15314024", "url": "https://glygen.org/publication/PubMed/15314024" }, { "database": "PubMed", "id": "15925330", "url": "https://glygen.org/publication/PubMed/15925330" }, { "database": "PubMed", "id": "15982669", "url": "https://glygen.org/publication/PubMed/15982669" }, { "database": "PubMed", "id": "16055440", "url": "https://glygen.org/publication/PubMed/16055440" }, { "database": "PubMed", "id": "16469808", "url": "https://glygen.org/publication/PubMed/16469808" }, { "database": "PubMed", "id": "16777975", "url": "https://glygen.org/publication/PubMed/16777975" }, { "database": "PubMed", "id": "16998818", "url": "https://glygen.org/publication/PubMed/16998818" }, { "database": "PubMed", "id": "17575262", "url": "https://glygen.org/publication/PubMed/17575262" }, { "database": "PubMed", "id": "18036196", "url": "https://glygen.org/publication/PubMed/18036196" }, { "database": "PubMed", "id": "18296638", "url": "https://glygen.org/publication/PubMed/18296638" }, { "database": "PubMed", "id": "18721257", "url": "https://glygen.org/publication/PubMed/18721257" }, { "database": "PubMed", "id": "18796617", "url": "https://glygen.org/publication/PubMed/18796617" }, { "database": "PubMed", "id": "19234595", "url": "https://glygen.org/publication/PubMed/19234595" }, { "database": "PubMed", "id": "19564410", "url": "https://glygen.org/publication/PubMed/19564410" }, { "database": "PubMed", "id": "19587264", "url": "https://glygen.org/publication/PubMed/19587264" }, { "database": "PubMed", "id": "20185762", "url": "https://glygen.org/publication/PubMed/20185762" }, { "database": "PubMed", "id": "20388826", "url": "https://glygen.org/publication/PubMed/20388826" }, { "database": "PubMed", "id": "20587749", "url": "https://glygen.org/publication/PubMed/20587749" }, { "database": "PubMed", "id": "20813836", "url": "https://glygen.org/publication/PubMed/20813836" }, { "database": "PubMed", "id": "21386087", "url": "https://glygen.org/publication/PubMed/21386087" }, { "database": "PubMed", "id": "21447485", "url": "https://glygen.org/publication/PubMed/21447485" }, { "database": "PubMed", "id": "21731668", "url": "https://glygen.org/publication/PubMed/21731668" }, { "database": "PubMed", "id": "21756814", "url": "https://glygen.org/publication/PubMed/21756814" }, { "database": "PubMed", "id": "22191431", "url": "https://glygen.org/publication/PubMed/22191431" }, { "database": "PubMed", "id": "22307032", "url": "https://glygen.org/publication/PubMed/22307032" }, { "database": "PubMed", "id": "22454293", "url": "https://glygen.org/publication/PubMed/22454293" }, { "database": "PubMed", "id": "22733784", "url": "https://glygen.org/publication/PubMed/22733784" }, { "database": "PubMed", "id": "22828956", "url": "https://glygen.org/publication/PubMed/22828956" }, { "database": "PubMed", "id": "22832498", "url": "https://glygen.org/publication/PubMed/22832498" }, { "database": "PubMed", "id": "22942720", "url": "https://glygen.org/publication/PubMed/22942720" }, { "database": "PubMed", "id": "22948222", "url": "https://glygen.org/publication/PubMed/22948222" }, { "database": "PubMed", "id": "23667647", "url": "https://glygen.org/publication/PubMed/23667647" }, { "database": "PubMed", "id": "24002347", "url": "https://glygen.org/publication/PubMed/24002347" }, { "database": "PubMed", "id": "24333417", "url": "https://glygen.org/publication/PubMed/24333417" }, { "database": "PubMed", "id": "24855642", "url": "https://glygen.org/publication/PubMed/24855642" }, { "database": "PubMed", "id": "24966659", "url": "https://glygen.org/publication/PubMed/24966659" }, { "database": "PubMed", "id": "25141786", "url": "https://glygen.org/publication/PubMed/25141786" }, { "database": "PubMed", "id": "25381390", "url": "https://glygen.org/publication/PubMed/25381390" }, { "database": "PubMed", "id": "25594850", "url": "https://glygen.org/publication/PubMed/25594850" }, { "database": "PubMed", "id": "25826740", "url": "https://glygen.org/publication/PubMed/25826740" }, { "database": "PubMed", "id": "26023930", "url": "https://glygen.org/publication/PubMed/26023930" }, { "database": "PubMed", "id": "26112408", "url": "https://glygen.org/publication/PubMed/26112408" }, { "database": "PubMed", "id": "26400768", "url": "https://glygen.org/publication/PubMed/26400768" }, { "database": "PubMed", "id": "26450947", "url": "https://glygen.org/publication/PubMed/26450947" }, { "database": "PubMed", "id": "26454089", "url": "https://glygen.org/publication/PubMed/26454089" }, { "database": "PubMed", "id": "26474286", "url": "https://glygen.org/publication/PubMed/26474286" }, { "database": "PubMed", "id": "26666849", "url": "https://glygen.org/publication/PubMed/26666849" }, { "database": "PubMed", "id": "26720454", "url": "https://glygen.org/publication/PubMed/26720454" }, { "database": "PubMed", "id": "26836389", "url": "https://glygen.org/publication/PubMed/26836389" }, { "database": "PubMed", "id": "26882989", "url": "https://glygen.org/publication/PubMed/26882989" }, { "database": "PubMed", "id": "27702567", "url": "https://glygen.org/publication/PubMed/27702567" }, { "database": "PubMed", "id": "28708100", "url": "https://glygen.org/publication/PubMed/28708100" }, { "database": "PubMed", "id": "28866332", "url": "https://glygen.org/publication/PubMed/28866332" }, { "database": "PubMed", "id": "28867797", "url": "https://glygen.org/publication/PubMed/28867797" }, { "database": "PubMed", "id": "28919555", "url": "https://glygen.org/publication/PubMed/28919555" }, { "database": "PubMed", "id": "29339083", "url": "https://glygen.org/publication/PubMed/29339083" }, { "database": "PubMed", "id": "29433422", "url": "https://glygen.org/publication/PubMed/29433422" }, { "database": "PubMed", "id": "29440699", "url": "https://glygen.org/publication/PubMed/29440699" }, { "database": "PubMed", "id": "29490521", "url": "https://glygen.org/publication/PubMed/29490521" }, { "database": "PubMed", "id": "29497383", "url": "https://glygen.org/publication/PubMed/29497383" }, { "database": "PubMed", "id": "29736736", "url": "https://glygen.org/publication/PubMed/29736736" }, { "database": "PubMed", "id": "29988567", "url": "https://glygen.org/publication/PubMed/29988567" }, { "database": "PubMed", "id": "30023489", "url": "https://glygen.org/publication/PubMed/30023489" }, { "database": "PubMed", "id": "30030460", "url": "https://glygen.org/publication/PubMed/30030460" }, { "database": "PubMed", "id": "30050584", "url": "https://glygen.org/publication/PubMed/30050584" }, { "database": "PubMed", "id": "30324688", "url": "https://glygen.org/publication/PubMed/30324688" }, { "database": "PubMed", "id": "30972066", "url": "https://glygen.org/publication/PubMed/30972066" }, { "database": "PubMed", "id": "31233775", "url": "https://glygen.org/publication/PubMed/31233775" }, { "database": "PubMed", "id": "32664532", "url": "https://glygen.org/publication/PubMed/32664532" }, { "database": "PubMed", "id": "32692982", "url": "https://glygen.org/publication/PubMed/32692982" }, { "database": "PubMed", "id": "32703455", "url": "https://glygen.org/publication/PubMed/32703455" }, { "database": "PubMed", "id": "32714408", "url": "https://glygen.org/publication/PubMed/32714408" }, { "database": "PubMed", "id": "33011364", "url": "https://glygen.org/publication/PubMed/33011364" }, { "database": "PubMed", "id": "33303821", "url": "https://glygen.org/publication/PubMed/33303821" }, { "database": "PubMed", "id": "35111058", "url": "https://glygen.org/publication/PubMed/35111058" }, { "database": "PubMed", "id": "35508278", "url": "https://glygen.org/publication/PubMed/35508278" }, { "database": "PubMed", "id": "35739993", "url": "https://glygen.org/publication/PubMed/35739993" }, { "database": "PubMed", "id": "35842638", "url": "https://glygen.org/publication/PubMed/35842638" }, { "database": "PubMed", "id": "35940125", "url": "https://glygen.org/publication/PubMed/35940125" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "31616027", "url": "https://glygen.org/publication/PubMed/31616027" }, { "database": "PubMed", "id": "35508278", "url": "https://glygen.org/publication/PubMed/35508278" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "18430969", "url": "https://glygen.org/publication/PubMed/18430969" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P20444-1", "kinase_gene_name": "Prkca", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "18430969", "url": "https://glygen.org/publication/PubMed/18430969" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Thr441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Thr448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Tyr460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "18498745", "url": "https://glygen.org/publication/PubMed/18498745" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Tyr608", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "19546233", "url": "https://glygen.org/publication/PubMed/19546233" }, { "database": "PubMed", "id": "19675138", "url": "https://glygen.org/publication/PubMed/19675138" }, { "database": "PubMed", "id": "21386087", "url": "https://glygen.org/publication/PubMed/21386087" }, { "database": "PubMed", "id": "22289908", "url": "https://glygen.org/publication/PubMed/22289908" }, { "database": "PubMed", "id": "22418434", "url": "https://glygen.org/publication/PubMed/22418434" }, { "database": "PubMed", "id": "24435134", "url": "https://glygen.org/publication/PubMed/24435134" }, { "database": "PubMed", "id": "25689493", "url": "https://glygen.org/publication/PubMed/25689493" }, { "database": "PubMed", "id": "26023930", "url": "https://glygen.org/publication/PubMed/26023930" }, { "database": "PubMed", "id": "26491103", "url": "https://glygen.org/publication/PubMed/26491103" }, { "database": "PubMed", "id": "26882989", "url": "https://glygen.org/publication/PubMed/26882989" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ser612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "24187137", "url": "https://glygen.org/publication/PubMed/24187137" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "12917346", "url": "https://glygen.org/publication/PubMed/12917346" }, { "database": "PubMed", "id": "14579029", "url": "https://glygen.org/publication/PubMed/14579029" }, { "database": "PubMed", "id": "15821749", "url": "https://glygen.org/publication/PubMed/15821749" }, { "database": "PubMed", "id": "21386087", "url": "https://glygen.org/publication/PubMed/21386087" }, { "database": "PubMed", "id": "23301857", "url": "https://glygen.org/publication/PubMed/23301857" }, { "database": "PubMed", "id": "24159000", "url": "https://glygen.org/publication/PubMed/24159000" }, { "database": "PubMed", "id": "24763529", "url": "https://glygen.org/publication/PubMed/24763529" }, { "database": "PubMed", "id": "26474286", "url": "https://glygen.org/publication/PubMed/26474286" }, { "database": "PubMed", "id": "26512886", "url": "https://glygen.org/publication/PubMed/26512886" }, { "database": "PubMed", "id": "27819676", "url": "https://glygen.org/publication/PubMed/27819676" }, { "database": "PubMed", "id": "33062046", "url": "https://glygen.org/publication/PubMed/33062046" }, { "database": "PubMed", "id": "35508278", "url": "https://glygen.org/publication/PubMed/35508278" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Tyr628", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "24763529", "url": "https://glygen.org/publication/PubMed/24763529" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Ser632", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15306821", "url": "https://glygen.org/publication/PubMed/15306821" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "14579029", "url": "https://glygen.org/publication/PubMed/14579029" }, { "database": "PubMed", "id": "19276091", "url": "https://glygen.org/publication/PubMed/19276091" }, { "database": "PubMed", "id": "21386087", "url": "https://glygen.org/publication/PubMed/21386087" }, { "database": "PubMed", "id": "16098829", "url": "https://glygen.org/publication/PubMed/16098829" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15306821", "url": "https://glygen.org/publication/PubMed/15306821" }, { "database": "PubMed", "id": "18498745", "url": "https://glygen.org/publication/PubMed/18498745" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "19276091", "url": "https://glygen.org/publication/PubMed/19276091" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Tyr658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ser676", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "22418434", "url": "https://glygen.org/publication/PubMed/22418434" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ser731", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "15306821", "url": "https://glygen.org/publication/PubMed/15306821" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Ser789", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" }, { "database": "PubMed", "id": "11598104", "url": "https://glygen.org/publication/PubMed/11598104" }, { "database": "PubMed", "id": "22906703", "url": "https://glygen.org/publication/PubMed/22906703" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Ser887", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Tyr891", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Tyr935", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "983", "end_pos": "983", "site_lbl": "Tyr983", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] }, { "uniprot_canonical_ac": "P35569-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35569", "url": "https://www.uniprot.org/uniprotkb/P35569" } ] } ] } ], "record_id": "P35569-1" }, { "uniprot_canonical_ac": "Q8CDF7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 570, "chemical_mass": 63962.0, "gene_names": "Exd1;4932702D22Rik;Exd1;Exdl1;mExd1", "protein_name": "piRNA biogenesis protein EXD1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" } ], "biological_process": [ { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" } ], "cellular_component": [ { "name": "PET complex", "id": "GO:1990923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990923", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q8CDF7", "url": "https://www.uniprot.org/uniprotkb/Q8CDF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CDF7-1" }, { "uniprot_canonical_ac": "Q9R059-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 289, "chemical_mass": 31795.0, "gene_names": "Fhl3;Fhl3;SLIM2", "protein_name": "Four and a half LIM domains protein 3", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9R059", "url": "https://www.uniprot.org/uniprotkb/Q9R059" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9R059-1" }, { "uniprot_canonical_ac": "P70451-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 823, "chemical_mass": 94579.0, "gene_names": "Fer;C330004K01Rik;Fert2;Fert;Fer", "protein_name": "Tyrosine-protein kinase Fer", "disease": [], "biological_process": [ { "name": "regulation of fibroblast migration", "id": "GO:0010762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010762", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "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": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "extracellular matrix-cell signaling", "id": "GO:0035426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035426", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "response to platelet-derived growth factor", "id": "GO:0036119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036119", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "Kit signaling pathway", "id": "GO:0038109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038109", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "diapedesis", "id": "GO:0050904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050904", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "Fc-epsilon receptor signaling pathway", "id": "GO:0038095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038095", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010591", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "Sertoli cell development", "id": "GO:0060009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060009", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cellular response to macrophage colony-stimulating factor stimulus", "id": "GO:0036006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036006", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042058", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "negative regulation of mast cell activation involved in immune response", "id": "GO:0033007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033007", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "adherens junction disassembly", "id": "GO:0120179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120179", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70451-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Tyr402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P70451", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70451" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Tyr616", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P70451-1", "kinase_gene_name": "Fer", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "iPTMnet", "id": "P70451", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70451" }, { "database": "PubMed", "id": "19159681", "url": "https://glygen.org/publication/PubMed/19159681" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "19159681", "url": "https://glygen.org/publication/PubMed/19159681" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Tyr715", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P70451-1", "kinase_gene_name": "Fer", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "iPTMnet", "id": "P70451", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70451" }, { "database": "PubMed", "id": "10074905", "url": "https://glygen.org/publication/PubMed/10074905" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "10074905", "url": "https://glygen.org/publication/PubMed/10074905" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Gly571", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Abolishes kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "9742951", "url": "https://glygen.org/publication/PubMed/9742951" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Lys592", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "10391941", "url": "https://glygen.org/publication/PubMed/10391941" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Phe606", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with PPP1CA.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "16732323", "url": "https://glygen.org/publication/PubMed/16732323" } ] } ] }, { "uniprot_canonical_ac": "P70451-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Asp743", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "R", "comment": "Abolishes kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P70451", "url": "https://www.uniprot.org/uniprotkb/P70451" }, { "database": "PubMed", "id": "10391941", "url": "https://glygen.org/publication/PubMed/10391941" } ] } ] } ], "record_id": "P70451-1" }, { "uniprot_canonical_ac": "P97447-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 31889.0, "gene_names": "Fhl1;FHL-1;Fhl1;KyoT;RAM14-1;SLIM-1;SLIM", "protein_name": "Four and a half LIM domains protein 1", "disease": [ { "disease_id": "DOID:0060253", "name": "scapuloperoneal myopathy", "description": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.", "url": "https://disease-ontology.org/term/DOID:0060253", "evidence": [ { "id": "0060253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060253" } ], "weight": 0.0 }, { "disease_id": "DOID:0070251", "name": "X-linked Emery-Dreifuss muscular dystrophy 6", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0070251", "evidence": [ { "id": "0070251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070251" } ], "weight": 0.0 }, { "disease_id": "DOID:0080090", "name": "reducing body myopathy 1A", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0080090", "evidence": [ { "id": "0080090", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080090" } ], "weight": 0.0 }, { "disease_id": "DOID:0080687", "name": "reducing body myopathy 1B", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0080687", "evidence": [ { "id": "0080687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080687" } ], "weight": 0.0 }, { "disease_id": "DOID:0112148", "name": "Uruguay faciocardiomusculoskeletal syndrome", "description": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0112148", "evidence": [ { "id": "0112148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112148" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "potassium channel activator activity", "id": "GO:0099104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099104", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "channel activator activity", "id": "GO:0099103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099103", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "negative regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010972", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane depolarization", "id": "GO:0060371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060371", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprotkb/P97447" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P97447-1" }, { "uniprot_canonical_ac": "P97480-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 510, "chemical_mass": 55973.0, "gene_names": "Eya3;Eya3", "protein_name": "Protein phosphatase EYA3", "disease": [ { "disease_id": "DOID:14702", "name": "branchiootorenal syndrome", "description": "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.", "url": "https://disease-ontology.org/term/DOID:14702", "evidence": [ { "id": "14702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14702" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "histone H2AXY142 phosphatase activity", "id": "GO:0140793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140793", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97480-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asp246", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes phosphatase activity and abolishes coactivation of the SIX1-DACH1 complex.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" }, { "database": "PubMed", "id": "14628042", "url": "https://glygen.org/publication/PubMed/14628042" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628042", "url": "https://glygen.org/publication/PubMed/14628042" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Asp248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Thr419", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Diminishes phosphatase activity by 24-fold.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Thr420", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Diminishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Lys449", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Gly473", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Asp474", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Diminishes phosphatase activity by 70%.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" } ] } ] }, { "uniprot_canonical_ac": "P97480-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Glu478", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "P97480", "url": "https://www.uniprot.org/uniprotkb/P97480" }, { "database": "PubMed", "id": "14628052", "url": "https://glygen.org/publication/PubMed/14628052" }, { "database": "PubMed", "id": "14628053", "url": "https://glygen.org/publication/PubMed/14628053" } ] } ] } ], "record_id": "P97480-1" }, { "uniprot_canonical_ac": "Q61160-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 205, "chemical_mass": 22960.0, "gene_names": "Fadd;Fadd;Mort1/FADD;Mort1", "protein_name": "FAS-associated death domain protein", "disease": [ { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0061060", "name": "immunodeficiency 90", "description": "A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0061060", "evidence": [ { "id": "0061060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061060" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "death effector domain binding", "id": "GO:0035877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035877", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor superfamily binding", "id": "GO:0032813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032813", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "caspase binding", "id": "GO:0089720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089720", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "death receptor binding", "id": "GO:0005123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005123", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "receptor serine/threonine kinase binding", "id": "GO:0033612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033612", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "CD95 death-inducing signaling complex", "id": "GO:0031265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031265", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "ripoptosome", "id": "GO:0097342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097342", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "death-inducing signaling complex", "id": "GO:0031264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031264", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "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": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "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": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "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": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "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": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "TRAIL-activated apoptotic signaling pathway", "id": "GO:0036462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036462", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "death-inducing signaling complex assembly", "id": "GO:0071550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071550", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling pathway", "id": "GO:0060340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060340", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "negative regulation of activation-induced cell death of T cells", "id": "GO:0070236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070236", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "motor neuron apoptotic process", "id": "GO:0097049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097049", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "necroptotic signaling pathway", "id": "GO:0097527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097527", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation", "id": "GO:2000454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000454", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "regulation of necroptotic process", "id": "GO:0060544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060544", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61160-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61160", "url": "https://www.uniprot.org/uniprotkb/Q61160" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61160", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61160" }, { "database": "PubMed", "id": "12705854", "url": "https://glygen.org/publication/PubMed/12705854" }, { "database": "PubMed", "id": "17030115", "url": "https://glygen.org/publication/PubMed/17030115" }, { "database": "PubMed", "id": "24548998", "url": "https://glygen.org/publication/PubMed/24548998" } ] } ] } ], "record_id": "Q61160-1" }, { "uniprot_canonical_ac": "Q6P6L0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1131, "chemical_mass": 129772.0, "gene_names": "Filip1l;Doc1", "protein_name": "Filamin A-interacting protein 1-like", "disease": [], "biological_process": [ { "name": "protein localization to actin cytoskeleton", "id": "GO:1903119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903119", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "hindgut development", "id": "GO:0061525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061525", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Thr1106", "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": 1106, "start_aa": "Thr", "end_pos": 1106, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1106", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6P6L0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Ser1107", "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": 1107, "start_aa": "Ser", "end_pos": 1107, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1107", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6P6L0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Ser1108", "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": 1108, "start_aa": "Ser", "end_pos": 1108, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1108", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6P6L0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Thr1110", "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": 1110, "start_aa": "Thr", "end_pos": 1110, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1110", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6P6L0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Ser610", "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": 610, "start_aa": "Ser", "end_pos": 610, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser610", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6P6L0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Ser1050", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P6L0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Ser789", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P6L0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "984", "end_pos": "984", "site_lbl": "Thr984", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P6L0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "992", "end_pos": "992", "site_lbl": "Thr992", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P6L0", "url": "https://www.uniprot.org/uniprotkb/Q6P6L0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P6L0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P6L0" } ] } ] }, { "uniprot_canonical_ac": "Q6P6L0-1", "start_pos": "1097", "end_pos": "1097", "site_lbl": "Ala1097", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "16", "chr_pos": "57392702", "evidence": [ { "id": "rs3389336155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389336155" } ] } ] } ], "record_id": "Q6P6L0-1" }, { "uniprot_canonical_ac": "Q9QXW2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 573, "chemical_mass": 64646.0, "gene_names": "Fbxw5;Fbw5;Fbxw5", "protein_name": "F-box/WD repeat-containing protein 5", "disease": [], "biological_process": [ { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "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": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" }, { "name": "Cul4-RING E3 ubiquitin ligase complex", "id": "GO:0080008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080008", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXW2-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Asn245", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IQNLNASTIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 245, "start_aa": "Asn", "end_pos": 245, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn245", "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": "Q9QXW2-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW2", "url": "https://www.uniprot.org/uniprotkb/Q9QXW2" } ] } ] } ], "record_id": "Q9QXW2-1" }, { "uniprot_canonical_ac": "Q3ULZ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1149, "chemical_mass": 125367.0, "gene_names": "Fhdc1;6330505N24Rik;Fhdc1;Gm126;Inf1;Kiaa1727", "protein_name": "FH2 domain-containing protein 1", "disease": [ { "disease_id": "DOID:0110205", "name": "Charcot-Marie-Tooth disease dominant intermediate E", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0110205", "evidence": [ { "id": "0110205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110205" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "Golgi ribbon formation", "id": "GO:0090161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090161", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3ULZ2-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Thr653", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 653, "start_aa": "Thr", "end_pos": 653, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr653", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3ULZ2-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" } ] } ] }, { "uniprot_canonical_ac": "Q3ULZ2-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3ULZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3ULZ2" } ] } ] }, { "uniprot_canonical_ac": "Q3ULZ2-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q3ULZ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3ULZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3ULZ2" } ] } ] } ], "record_id": "Q3ULZ2-1" }, { "uniprot_canonical_ac": "Q8VDC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1437, "chemical_mass": 162336.0, "gene_names": "Fyco1;2810409M01Rik;Fyco1;Mem2;RUFY3;ZFYVE7", "protein_name": "FYVE and coiled-coil domain-containing protein 1", "disease": [ { "disease_id": "DOID:0110238", "name": "cataract 18", "description": "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.", "url": "https://disease-ontology.org/term/DOID:0110238", "evidence": [ { "id": "0110238", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110238" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of autophagosome maturation", "id": "GO:1901098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901098", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" }, { "name": "plus-end-directed vesicle transport along microtubule", "id": "GO:0072383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072383", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Thr344", "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": 344, "start_aa": "Thr", "end_pos": 344, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr344", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q8VDC1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VDC1" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "9", "chr_pos": "123659144", "evidence": [ { "id": "rs3389061238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061238" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "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": 348, "start_aa": "Ser", "end_pos": 348, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser348", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q8VDC1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VDC1" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Thr372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VDC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VDC1" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Ser837", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDC1", "url": "https://www.uniprot.org/uniprotkb/Q8VDC1" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Ser1357", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "9", "chr_pos": "123626640", "evidence": [ { "id": "rs3389085069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389085069" } ] } ] }, { "uniprot_canonical_ac": "Q8VDC1-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Asp303", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "9", "chr_pos": "123659268", "evidence": [ { "id": "rs3389030879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389030879" } ] } ] } ], "record_id": "Q8VDC1-1" }, { "uniprot_canonical_ac": "E9PV24-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 789, "chemical_mass": 87429.0, "gene_names": "Fga;Fga;Fib", "protein_name": "Fibrinogen alpha chain", "disease": [ { "disease_id": "DOID:0050636", "name": "hereditary systemic amyloidosis 2", "description": "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.", "url": "https://disease-ontology.org/term/DOID:0050636", "evidence": [ { "id": "0050636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050636" } ], "weight": 0.0 }, { "disease_id": "DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain.", "url": "https://disease-ontology.org/term/DOID:0112313", "evidence": [ { "id": "0112313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:2236", "name": "congenital afibrinogenemia", "description": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).", "url": "https://disease-ontology.org/term/DOID:2236", "evidence": [ { "id": "2236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2236" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:484", "name": "vascular hemostatic disease", "description": "", "url": "https://disease-ontology.org/term/DOID:484", "evidence": [ { "id": "484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:484" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "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 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "fibrinogen complex", "id": "GO:0005577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005577", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "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": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "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": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "blood coagulation, common pathway", "id": "GO:0072377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072377", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of peptide hormone secretion", "id": "GO:0090277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090277", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "induction of bacterial agglutination", "id": "GO:0043152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043152", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Asn609", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 609, "start_aa": "Asn", "end_pos": 609, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn609", "evidence": [ { "id": "E9PV24", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PV24#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Ser447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9PV24", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PV24" } ] } ] }, { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprotkb/E9PV24" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9PV24", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PV24" } ] } ] }, { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Asn324", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "3", "chr_pos": "82938597", "evidence": [ { "id": "rs261247605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261247605" } ] } ] }, { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Asp434", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "3", "chr_pos": "82938926", "evidence": [ { "id": "rs3388625418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388625418" } ] } ] }, { "uniprot_canonical_ac": "E9PV24-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ile492", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "3", "chr_pos": "82939101", "evidence": [ { "id": "rs3388636695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388636695" } ] } ] } ], "record_id": "E9PV24-1" }, { "uniprot_canonical_ac": "Q9CS72-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1214, "chemical_mass": 137913.0, "gene_names": "Filip1;5730485H21Rik;Filip1", "protein_name": "Filamin-A-interacting protein 1", "disease": [], "biological_process": [ { "name": "protein localization to actin cytoskeleton", "id": "GO:1903119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903119", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "corpus callosum development", "id": "GO:0022038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022038", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "modification of postsynaptic structure", "id": "GO:0099010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099010", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1112", "end_pos": "1112", "site_lbl": "Ser1112", "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": 1112, "start_aa": "Ser", "end_pos": 1112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1112", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9CS72", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1127", "end_pos": "1127", "site_lbl": "Thr1127", "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": 1127, "start_aa": "Thr", "end_pos": 1127, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1127", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Thr1133", "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": 1133, "start_aa": "Thr", "end_pos": 1133, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1133", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Thr1136", "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": 1136, "start_aa": "Thr", "end_pos": 1136, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1136", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9CS72", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1137", "end_pos": "1137", "site_lbl": "Thr1137", "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": 1137, "start_aa": "Thr", "end_pos": 1137, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1137", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9CS72", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Ser1139", "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": 1139, "start_aa": "Ser", "end_pos": 1139, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1139", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9CS72", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Thr1140", "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": 1140, "start_aa": "Thr", "end_pos": 1140, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1140", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9CS72", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CS72" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9CS72", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" } ] } ] }, { "uniprot_canonical_ac": "Q9CS72-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Ser979", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CS72", "url": "https://www.uniprot.org/uniprotkb/Q9CS72" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CS72", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CS72" } ] } ] } ], "record_id": "Q9CS72-1" }, { "uniprot_canonical_ac": "O35601-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 819, "chemical_mass": 90055.0, "gene_names": "Fyb1;ADAP;B630013F22Rik;FYB-120/130;Fyb1;Fyb;Slap130;p120/130;p120/p130", "protein_name": "FYN-binding protein 1", "disease": [ { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" } ], "biological_process": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35601-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Thr610", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 610, "start_aa": "Thr", "end_pos": 610, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr610", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Ser445", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Tyr559", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Tyr584", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "IntAct", "id": "O35601", "url": "https://www.ebi.ac.uk/intact/interactors/id:O35601*" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" }, { "database": "PubMed", "id": "15477347", "url": "https://glygen.org/publication/PubMed/15477347" } ] } ] }, { "uniprot_canonical_ac": "O35601-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Tyr687", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35601", "url": "https://www.uniprot.org/uniprotkb/O35601" }, { "database": "IntAct", "id": "O35601", "url": "https://www.ebi.ac.uk/intact/interactors/id:O35601*" }, { "database": "iPTMnet", "id": "O35601", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35601" }, { "database": "PubMed", "id": "15477347", "url": "https://glygen.org/publication/PubMed/15477347" } ] } ] } ], "record_id": "O35601-1" }, { "uniprot_canonical_ac": "P56959-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 518, "chemical_mass": 52673.0, "gene_names": "Fus;D430004D17Rik;D930039C12Rik;Fus1;Fus;Tls", "protein_name": "RNA-binding protein FUS", "disease": [ { "disease_id": "DOID:0060198", "name": "amyotrophic lateral sclerosis type 6", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.", "url": "https://disease-ontology.org/term/DOID:0060198", "evidence": [ { "id": "0060198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060198" } ], "weight": 0.0 }, { "disease_id": "DOID:0111431", "name": "essential tremor 4", "description": "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0111431", "evidence": [ { "id": "0111431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111431" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3382", "name": "liposarcoma", "description": "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.", "url": "https://disease-ontology.org/term/DOID:3382", "evidence": [ { "id": "3382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3382" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "dendritic spine head", "id": "GO:0044327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044327", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "myosin V binding", "id": "GO:0031489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031489", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" } ], "biological_process": [ { "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": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56959-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asn226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42124LM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GRGGGGGYNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "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": "P56959-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ] } ] }, { "uniprot_canonical_ac": "P56959-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Thr279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ] } ] }, { "uniprot_canonical_ac": "P56959-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P56959", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56959" }, { "database": "PubMed", "id": "32950644", "url": "https://glygen.org/publication/PubMed/32950644" } ] } ] }, { "uniprot_canonical_ac": "P56959-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56959", "url": "https://www.uniprot.org/uniprotkb/P56959" } ] } ] } ], "record_id": "P56959-1" }, { "uniprot_canonical_ac": "P97379-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 54088.0, "gene_names": "G3bp2;E430034L04Rik;G3BP;G3bp2;mKIAA0660", "protein_name": "Ras GTPase-activating protein-binding protein 2", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97379-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "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": 225, "start_aa": "Ser", "end_pos": 225, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser225", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P97379", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97379" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" }, { "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": "P97379", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Thr227", "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": 227, "start_aa": "Thr", "end_pos": 227, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr227", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P97379", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97379" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" }, { "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": "P97379", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "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": 235, "start_aa": "Ser", "end_pos": 235, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser235", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P97379", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97379" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P97379", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "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": 245, "start_aa": "Ser", "end_pos": 245, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser245", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P97379", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97379" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P97379", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97379", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97379", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97379" } ] } ] }, { "uniprot_canonical_ac": "P97379-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97379", "url": "https://www.uniprot.org/uniprotkb/P97379" } ] } ] } ], "record_id": "P97379-1" }, { "uniprot_canonical_ac": "P97501-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 534, "chemical_mass": 60516.0, "gene_names": "Fmo3;Fmo3", "protein_name": "Flavin-containing monooxygenase 3", "disease": [ { "disease_id": "DOID:0060411", "name": "chromosome 1q21.1 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.", "url": "https://disease-ontology.org/term/DOID:0060411", "evidence": [ { "id": "0060411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060411" } ], "weight": 0.0 }, { "disease_id": "DOID:0080361", "name": "trimethylaminuria", "description": "An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.", "url": "https://disease-ontology.org/term/DOID:0080361", "evidence": [ { "id": "0080361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080361" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "amino acid binding", "id": "GO:0016597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016597", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "trimethylamine monooxygenase activity", "id": "GO:0034899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034899", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "N,N-dimethylaniline monooxygenase activity", "id": "GO:0004499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004499", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "albendazole monooxygenase activity", "id": "GO:0047638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047638", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "hypotaurine monooxygenase activity", "id": "GO:0047822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047822", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" }, { "name": "taurine biosynthetic process", "id": "GO:0042412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042412", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97501-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97501", "url": "https://www.uniprot.org/uniprotkb/P97501" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P97501", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97501" } ] } ] } ], "record_id": "P97501-1" }, { "uniprot_canonical_ac": "Q3U7U3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 523, "chemical_mass": 57649.0, "gene_names": "Fbxo7;2410015K21Rik;A230052G17Rik;Fbxo7", "protein_name": "F-box only protein 7", "disease": [ { "disease_id": "DOID:0060372", "name": "Parkinson's disease 15", "description": "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.", "url": "https://disease-ontology.org/term/DOID:0060372", "evidence": [ { "id": "0060372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060372" } ], "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 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "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": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "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": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "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": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "negative regulation of lymphocyte differentiation", "id": "GO:0045620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045620", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "positive regulation of autophagy of mitochondrion", "id": "GO:1903599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903599", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "Lewy body core", "id": "GO:1990037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990037", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "glial cytoplasmic inclusion", "id": "GO:0097409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097409", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "classical Lewy body", "id": "GO:0097414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097414", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "Lewy neurite", "id": "GO:0097462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097462", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "Lewy body corona", "id": "GO:1990038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990038", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q3U7U3", "url": "https://www.uniprot.org/uniprotkb/Q3U7U3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U7U3-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "85860483", "evidence": [ { "id": "rs3389112416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389112416" } ] } ] }, { "uniprot_canonical_ac": "Q3U7U3-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Pro88", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "10", "chr_pos": "85860419", "evidence": [ { "id": "rs3389122605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389122605" } ] } ] } ], "record_id": "Q3U7U3-1" }, { "uniprot_canonical_ac": "Q7TSG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 47508.0, "gene_names": "Fbxo5;2510044I10Rik;Emi1;Fbxo31;Fbxo5", "protein_name": "F-box only protein 5", "disease": [], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "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": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell migration", "id": "GO:1905322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905322", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-protein transferase activity", "id": "GO:0051444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051444", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "vesicle organization", "id": "GO:0016050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016050", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "positive regulation of biomineral tissue development", "id": "GO:0070169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070169", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin protein ligase activity", "id": "GO:1904667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904667", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of DNA endoreduplication", "id": "GO:0032876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032876", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of mitotic metaphase/anaphase transition", "id": "GO:0045841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045841", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "spindle assembly involved in female meiosis I", "id": "GO:0007057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007057", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "negative regulation of meiotic nuclear division", "id": "GO:0045835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045835", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "positive regulation of meiosis I", "id": "GO:0060903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060903", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "regulation of meiotic nuclear division", "id": "GO:0040020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040020", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "meiotic spindle", "id": "GO:0072687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072687", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "ubiquitin ligase inhibitor activity", "id": "GO:1990948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990948", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "anaphase-promoting complex binding", "id": "GO:0010997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010997", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" }, { "name": "molecular function inhibitor activity", "id": "GO:0140678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140678", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Thr289", "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": 289, "start_aa": "Thr", "end_pos": 289, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr289", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TSG3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TSG3" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreases phosphorylation by RPS6KA2.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" }, { "database": "PubMed", "id": "15526037", "url": "https://glygen.org/publication/PubMed/15526037" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TSG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TSG3" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Pro148", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "10", "chr_pos": "5752170", "evidence": [ { "id": "rs3389092409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389092409" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases phosphorylation by RPS6KA2.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" }, { "database": "PubMed", "id": "15526037", "url": "https://glygen.org/publication/PubMed/15526037" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Thr342", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect phosphorylation by RPS6KA2.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" }, { "database": "PubMed", "id": "15526037", "url": "https://glygen.org/publication/PubMed/15526037" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG3-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by RPS6KA2.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG3", "url": "https://www.uniprot.org/uniprotkb/Q7TSG3" }, { "database": "PubMed", "id": "15526037", "url": "https://glygen.org/publication/PubMed/15526037" } ] } ] } ], "record_id": "Q7TSG3-1" }, { "uniprot_canonical_ac": "Q8BTM8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2647, "chemical_mass": 281222.0, "gene_names": "Flna;ABP-280;Dilp2;F730004A14Rik;Fln1;Flna;Fln;GENA 379;filamin-1", "protein_name": "Filamin-A", "disease": [ { "disease_id": "DOID:0050454", "name": "periventricular nodular heterotopia", "description": "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.", "url": "https://disease-ontology.org/term/DOID:0050454", "evidence": [ { "id": "0050454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050454" } ], "weight": 0.0 }, { "disease_id": "DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.", "url": "https://disease-ontology.org/term/DOID:0080096", "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ], "weight": 0.0 }, { "disease_id": "DOID:0080681", "name": "X-linked chronic idiopathic intestinal pseudo-obstruction", "description": "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0080681", "evidence": [ { "id": "0080681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080681" } ], "weight": 0.0 }, { "disease_id": "DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.", "url": "https://disease-ontology.org/term/DOID:0111190", "evidence": [ { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ], "weight": 0.0 }, { "disease_id": "DOID:0111765", "name": "X-linked cardiac valvular dysplasia", "description": "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111765", "evidence": [ { "id": "0111765", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111765" } ], "weight": 0.0 }, { "disease_id": "DOID:0111782", "name": "otopalatodigital syndrome spectrum disorder", "description": "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111782", "evidence": [ { "id": "0111782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111782" } ], "weight": 0.0 }, { "disease_id": "DOID:0111783", "name": "otopalatodigital syndrome type 1", "description": "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111783", "evidence": [ { "id": "0111783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111783" } ], "weight": 0.0 }, { "disease_id": "DOID:0111784", "name": "otopalatodigital syndrome type 2", "description": "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111784", "evidence": [ { "id": "0111784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111784" } ], "weight": 0.0 }, { "disease_id": "DOID:0111786", "name": "frontometaphyseal dysplasia 1", "description": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111786", "evidence": [ { "id": "0111786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111786" } ], "weight": 0.0 }, { "disease_id": "DOID:0111788", "name": "Melnick-Needles syndrome", "description": "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111788", "evidence": [ { "id": "0111788", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111788" } ], "weight": 0.0 }, { "disease_id": "DOID:0112149", "name": "terminal osseous dysplasia", "description": "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0112149", "evidence": [ { "id": "0112149", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112149" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "blood coagulation, intrinsic pathway", "id": "GO:0007597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007597", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "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": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein localization to bicellular tight junction", "id": "GO:1902396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902396", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "establishment of Sertoli cell barrier", "id": "GO:0097368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097368", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase I", "id": "GO:0016479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016479", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "regulation of membrane repolarization during atrial cardiac muscle cell action potential", "id": "GO:1905000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905000", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "regulation of membrane repolarization during cardiac muscle cell action potential", "id": "GO:1905031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905031", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "regulation of actin filament bundle assembly", "id": "GO:0032231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032231", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of integrin-mediated signaling pathway", "id": "GO:2001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001046", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of neuron migration", "id": "GO:2001224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001224", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "tubulin deacetylation", "id": "GO:0090042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090042", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin filament bundle", "id": "GO:0032432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032432", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "Myb complex", "id": "GO:0031523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031523", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "Fc-gamma receptor I complex binding", "id": "GO:0034988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034988", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1303", "end_pos": "1303", "site_lbl": "Asn1303", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VANPSGNLTDTYVQDCGDGTYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1303, "start_aa": "Asn", "end_pos": 1303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1303", "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": "Q8BTM8-1", "start_pos": "1475", "end_pos": "1475", "site_lbl": "Thr1475", "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": 1475, "start_aa": "Thr", "end_pos": 1475, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1475", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BTM8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1476", "end_pos": "1476", "site_lbl": "Ser1476", "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": 1476, "start_aa": "Ser", "end_pos": 1476, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1476", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BTM8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1663", "end_pos": "1663", "site_lbl": "Thr1663", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1663, "start_aa": "Thr", "end_pos": 1663, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1663", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2407", "end_pos": "2407", "site_lbl": "Asn2407", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FNGTHIPGSPFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2407, "start_aa": "Asn", "end_pos": 2407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2407", "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" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2407, "start_aa": "Asn", "end_pos": 2407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2407", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2316", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2316" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2577", "end_pos": "2577", "site_lbl": "Asn2577", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNFTVDCSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2577, "start_aa": "Asn", "end_pos": 2577, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2577", "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": "Q8BTM8-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Thr473", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 473, "start_aa": "Thr", "end_pos": 473, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr473", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Thr818", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 818, "start_aa": "Thr", "end_pos": 818, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr818", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Ser1055", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1084", "end_pos": "1084", "site_lbl": "Ser1084", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1089", "end_pos": "1089", "site_lbl": "Thr1089", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1301", "end_pos": "1301", "site_lbl": "Ser1301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1338", "end_pos": "1338", "site_lbl": "Ser1338", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Ser1459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1533", "end_pos": "1533", "site_lbl": "Ser1533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1630", "end_pos": "1630", "site_lbl": "Ser1630", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1734", "end_pos": "1734", "site_lbl": "Ser1734", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1750", "end_pos": "1750", "site_lbl": "Thr1750", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1835", "end_pos": "1835", "site_lbl": "Ser1835", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1967", "end_pos": "1967", "site_lbl": "Ser1967", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2053", "end_pos": "2053", "site_lbl": "Ser2053", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2128", "end_pos": "2128", "site_lbl": "Ser2128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Ser2152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" }, { "database": "PubMed", "id": "33664708", "url": "https://glygen.org/publication/PubMed/33664708" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2158", "end_pos": "2158", "site_lbl": "Ser2158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2163", "end_pos": "2163", "site_lbl": "Ser2163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2180", "end_pos": "2180", "site_lbl": "Ser2180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2284", "end_pos": "2284", "site_lbl": "Ser2284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2327", "end_pos": "2327", "site_lbl": "Ser2327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2329", "end_pos": "2329", "site_lbl": "Ser2329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2336", "end_pos": "2336", "site_lbl": "Thr2336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2338", "end_pos": "2338", "site_lbl": "Ser2338", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2370", "end_pos": "2370", "site_lbl": "Ser2370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2414", "end_pos": "2414", "site_lbl": "Ser2414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2510", "end_pos": "2510", "site_lbl": "Ser2510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2523", "end_pos": "2523", "site_lbl": "Ser2523", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2526", "end_pos": "2526", "site_lbl": "Ser2526", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2599", "end_pos": "2599", "site_lbl": "Thr2599", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "968", "end_pos": "968", "site_lbl": "Ser968", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BTM8", "url": "https://www.uniprot.org/uniprotkb/Q8BTM8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BTM8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BTM8" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "1300", "end_pos": "1300", "site_lbl": "Pro1300", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "X", "chr_pos": "73279043", "evidence": [ { "id": "rs3389532890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532890" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2143", "end_pos": "2143", "site_lbl": "Ser2143", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "X", "chr_pos": "73271532", "evidence": [ { "id": "rs3389560614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389560614" } ] } ] }, { "uniprot_canonical_ac": "Q8BTM8-1", "start_pos": "2409", "end_pos": "2409", "site_lbl": "Thr2409", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "X", "chr_pos": "73269111", "evidence": [ { "id": "rs3389532847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532847" } ] } ] } ], "record_id": "Q8BTM8-1" }, { "uniprot_canonical_ac": "Q8C456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 722, "chemical_mass": 81731.0, "gene_names": "Wdpcp;Frtz;Wdpcp;homolog-13", "protein_name": "WD repeat-containing and planar cell polarity effector protein fritz homolog", "disease": [ { "disease_id": "DOID:0110137", "name": "Bardet-Biedl syndrome 15", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.", "url": "https://disease-ontology.org/term/DOID:0110137", "evidence": [ { "id": "0110137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110137" } ], "weight": 0.0 }, { "disease_id": "DOID:0111591", "name": "congenital heart defects, hamartomas of tongue, and polysyndactyly", "description": "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.", "url": "https://disease-ontology.org/term/DOID:0111591", "evidence": [ { "id": "0111591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111591" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of ruffle assembly", "id": "GO:1900027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900027", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of fibroblast migration", "id": "GO:0010762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010762", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "podocyte cell migration", "id": "GO:0090521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090521", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "digestive system development", "id": "GO:0055123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055123", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "auditory receptor cell morphogenesis", "id": "GO:0002093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002093", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "septin cytoskeleton organization", "id": "GO:0032185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032185", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "respiratory system development", "id": "GO:0060541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060541", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of establishment of cell polarity", "id": "GO:2000114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000114", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "tongue morphogenesis", "id": "GO:0043587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043587", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" }, { "name": "axonemal basal plate", "id": "GO:0097541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097541", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q8C456", "url": "https://www.uniprot.org/uniprotkb/Q8C456" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C456-1" }, { "uniprot_canonical_ac": "Q8JZP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 678, "chemical_mass": 72411.0, "gene_names": "Gas2l1;4930500E24Rik;D0Jmb1;Gar22;Gas2l1;TU-71.1", "protein_name": "GAS2-like protein 1", "disease": [], "biological_process": [ { "name": "regulation of microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "protein localization to microtubule plus-end", "id": "GO:1904825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904825", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Thr299", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 299, "start_aa": "Thr", "end_pos": 299, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr299", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Thr669", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 669, "start_aa": "Thr", "end_pos": 669, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr669", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "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": 672, "start_aa": "Thr", "end_pos": 672, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr672", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8JZP9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Ser436", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Ser482", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Thr501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" } ] } ] }, { "uniprot_canonical_ac": "Q8JZP9-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ser654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP9", "url": "https://www.uniprot.org/uniprotkb/Q8JZP9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8JZP9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8JZP9" } ] } ] } ], "record_id": "Q8JZP9-1" }, { "uniprot_canonical_ac": "Q91WJ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 651, "chemical_mass": 68540.0, "gene_names": "Fubp1;9530027K12Rik;D3Ertd330e;FBP;Fubp1;Fubp4;Fubp", "protein_name": "Far upstream element-binding protein 1", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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: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": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "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": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell migration", "id": "GO:1900149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900149", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "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": 191, "start_aa": "Ser", "end_pos": 191, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser191", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q91WJ8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q91WJ8" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q91WJ8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91WJ8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91WJ8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Thr428", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ] } ] }, { "uniprot_canonical_ac": "Q91WJ8-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Ser626", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WJ8", "url": "https://www.uniprot.org/uniprotkb/Q91WJ8" } ] } ] } ], "record_id": "Q91WJ8-1" }, { "uniprot_canonical_ac": "Q91X85-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 60059.0, "gene_names": "Flvcr2;CCT;Flvcr2;Mfsd7c", "protein_name": "Choline/ethanolamine transporter FLVCR2", "disease": [ { "disease_id": "DOID:0111666", "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0111666", "evidence": [ { "id": "0111666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111666" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "choline binding", "id": "GO:0033265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033265", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "heme transmembrane transporter activity", "id": "GO:0015232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015232", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "ethanolamine transmembrane transporter activity", "id": "GO:0034228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034228", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" } ], "biological_process": [ { "name": "endothelial tip cell fate specification", "id": "GO:0097102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097102", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "membrane lipid catabolic process", "id": "GO:0046466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046466", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "heme export", "id": "GO:0097037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097037", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91X85-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X85", "url": "https://www.uniprot.org/uniprotkb/Q91X85" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X85", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X85" } ] } ] } ], "record_id": "Q91X85-1" }, { "uniprot_canonical_ac": "Q9D1M7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1M7", "url": "https://www.uniprot.org/uniprotkb/Q9D1M7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 201, "chemical_mass": 22137.0, "gene_names": "Fkbp11;1110002O23Rik;FKBP-11;Fkbp11", "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP11", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M7", "url": "https://www.uniprot.org/uniprotkb/Q9D1M7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M7", "url": "https://www.uniprot.org/uniprotkb/Q9D1M7" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M7", "url": "https://www.uniprot.org/uniprotkb/Q9D1M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D1M7-1" }, { "uniprot_canonical_ac": "Q9WTS2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 575, "chemical_mass": 66557.0, "gene_names": "Fut8;Fut8", "protein_name": "Alpha-(1,6)-fucosyltransferase", "disease": [ { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "alpha-(1->6)-fucosyltransferase activity", "id": "GO:0046921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046921", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "glycoprotein 6-alpha-L-fucosyltransferase activity", "id": "GO:0008424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008424", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" } ], "biological_process": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "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": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "N-glycan processing", "id": "GO:0006491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006491", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "receptor metabolic process", "id": "GO:0043112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043112", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" }, { "name": "GDP-L-fucose metabolic process", "id": "GO:0046368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046368", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "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": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTS2", "url": "https://www.uniprot.org/uniprotkb/Q9WTS2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTS2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTS2" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Phe23", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77378967", "evidence": [ { "id": "rs3389231596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231596" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ile25", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77378975", "evidence": [ { "id": "rs3403781477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403781477" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Pro305", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77495325", "evidence": [ { "id": "rs3389248043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389248043" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Leu306", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77495328", "evidence": [ { "id": "rs3389244122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389244122" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Gln330", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77495401", "evidence": [ { "id": "rs3389256088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389256088" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Arg337", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77495421", "evidence": [ { "id": "rs3549624993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549624993" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Pro358", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77495484", "evidence": [ { "id": "rs3549578182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549578182" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77379007", "evidence": [ { "id": "rs3403244286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403244286" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asp37", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77379008_77379009insATATAAAATAA", "evidence": [ { "id": "rs3403064257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403064257" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Ser428", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77510856", "evidence": [ { "id": "rs3389247986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389247986" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77510911", "evidence": [ { "id": "rs3389238355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389238355" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77510971", "evidence": [ { "id": "rs3389259050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389259050" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Val471", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77521773", "evidence": [ { "id": "rs3389231608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231608" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Asp494", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77521842", "evidence": [ { "id": "rs3389253181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253181" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Gly500", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77521861", "evidence": [ { "id": "rs3389177588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389177588" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Tyr539", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77521977", "evidence": [ { "id": "rs3389204998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389204998" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77521981", "evidence": [ { "id": "rs3389238404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389238404" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77522011", "evidence": [ { "id": "rs3389253251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253251" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Gly551", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77522013", "evidence": [ { "id": "rs3389259125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389259125" } ] } ] }, { "uniprot_canonical_ac": "Q9WTS2-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Pro571", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "12", "chr_pos": "77522074", "evidence": [ { "id": "rs3389214535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389214535" } ] } ] } ], "record_id": "Q9WTS2-1" }, { "uniprot_canonical_ac": "Q9WVR4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 73743.0, "gene_names": "Fxr2;Fxr2h", "protein_name": "RNA-binding protein FXR2", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:14261", "name": "fragile X syndrome", "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.", "url": "https://disease-ontology.org/term/DOID:14261", "evidence": [ { "id": "14261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14261" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "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": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic plasticity", "id": "GO:0048170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048170", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "regulation of translation at presynapse, modulating synaptic transmission", "id": "GO:0099577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099577", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Asn571", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90382BL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TDEDRTVMDGALESDGPNMTENGLEDESR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 571, "start_aa": "Asn", "end_pos": 571, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn571", "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": "Q9WVR4-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Thr611", "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": 611, "start_aa": "Thr", "end_pos": 611, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr611", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WVR4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WVR4" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 611, "start_aa": "Thr", "end_pos": 611, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr611", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Thr413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ser452", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ser567", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Ser581", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Thr599", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Ser602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ser604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVR4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVR4" } ] } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Tyr78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR4", "url": "https://www.uniprot.org/uniprotkb/Q9WVR4" } ] } ] } ], "record_id": "Q9WVR4-1" }, { "uniprot_canonical_ac": "Q8K3J9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 48422.0, "gene_names": "Gprc5c;1110028I06Rik;3200002M13Rik;Gprc5c;Raig3", "protein_name": "G protein-coupled receptor family C group 5 member C", "disease": [], "molecular_function": [ { "name": "sevenless binding", "id": "GO:0005118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005118", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" } ], "biological_process": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Asn190", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "Q8K3J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "11", "chr_pos": "114754893", "evidence": [ { "id": "rs3389185756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185756" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ser382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3J9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3J9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3J9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3J9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Tyr413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3J9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3J9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3J9-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Thr422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3J9", "url": "https://www.uniprot.org/uniprotkb/Q8K3J9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3J9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3J9" } ] } ] } ], "record_id": "Q8K3J9-1" }, { "uniprot_canonical_ac": "P62881-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 43565.0, "gene_names": "Gnb5;GBS;Gbeta5;Gnb5;Hg2e;flr", "protein_name": "Guanine nucleotide-binding protein subunit beta-5", "disease": [ { "disease_id": "DOID:0081008", "name": "Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia", "description": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0081008", "evidence": [ { "id": "0081008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081008" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cell tip", "id": "GO:0051286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051286", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "G-protein gamma-subunit binding", "id": "GO:0031682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031682", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "G protein-coupled dopamine receptor signaling pathway", "id": "GO:0007212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007212", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "dark adaptation", "id": "GO:1990603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990603", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" }, { "name": "light adaption", "id": "GO:0036367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036367", "evidence": [ { "database": "UniProtKB", "id": "P62881", "url": "https://www.uniprot.org/uniprotkb/P62881" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P62881-1" }, { "uniprot_canonical_ac": "Q3UNH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 932, "chemical_mass": 95496.0, "gene_names": "Gprin1;Gprin1;Z16", "protein_name": "G protein-regulated inducer of neurite outgrowth 1", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "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": 259, "start_aa": "Ser", "end_pos": 259, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser259", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "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": 268, "start_aa": "Ser", "end_pos": 268, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser268", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Thr270", "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": 270, "start_aa": "Thr", "end_pos": 270, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr270", "evidence": [ { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "Q3UNH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UNH4" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Thr275", "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": 275, "start_aa": "Thr", "end_pos": 275, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr275", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "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": 276, "start_aa": "Ser", "end_pos": 276, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser276", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "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": 315, "start_aa": "Ser", "end_pos": 315, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser315", "evidence": [ { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "Q3UNH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UNH4" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Thr343", "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": 343, "start_aa": "Thr", "end_pos": 343, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr343", "evidence": [ { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "Q3UNH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UNH4" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Thr503", "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": 503, "start_aa": "Thr", "end_pos": 503, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr503", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Asn55", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PAGSLACPSPNCSPLPETPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 55, "start_aa": "Asn", "end_pos": 55, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn55", "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": "Q3UNH4-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Thr607", "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": 607, "start_aa": "Thr", "end_pos": 607, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr607", "evidence": [ { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "Q3UNH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UNH4" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "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": 655, "start_aa": "Ser", "end_pos": 655, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser655", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3UNH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "930", "end_pos": "930", "site_lbl": "Thr930", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 930, "start_aa": "Thr", "end_pos": 930, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr930", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Ser495", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Ser519", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Ser714", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Thr795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Ser817", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Ser836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UNH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UNH4" } ] } ] }, { "uniprot_canonical_ac": "Q3UNH4-1", "start_pos": "917", "end_pos": "917", "site_lbl": "Ser917", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UNH4", "url": "https://www.uniprot.org/uniprotkb/Q3UNH4" } ] } ] } ], "record_id": "Q3UNH4-1" }, { "uniprot_canonical_ac": "Q60631-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 25238.0, "gene_names": "Grb2;Ash;Grb2", "protein_name": "Growth factor receptor-bound protein 2", "disease": [ { "disease_id": "DOID:0111642", "name": "autosomal recessive nonsyndromic deafness 114", "description": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.", "url": "https://disease-ontology.org/term/DOID:0111642", "evidence": [ { "id": "0111642", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111642" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "insulin receptor substrate binding", "id": "GO:0043560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043560", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "neurotrophin TRKA receptor binding", "id": "GO:0005168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005168", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase adaptor activity", "id": "GO:0005068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005068", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor adaptor activity", "id": "GO:0005091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005091", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "Grb2-EGFR complex", "id": "GO:0070436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070436", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "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": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "branching involved in labyrinthine layer morphogenesis", "id": "GO:0060670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060670", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "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": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045953", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60631-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Thr", "end_pos": 211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr211", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ] } ] }, { "uniprot_canonical_ac": "Q60631-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Tyr209", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60631", "url": "https://www.uniprot.org/uniprotkb/Q60631" } ] } ] } ], "record_id": "Q60631-1" }, { "uniprot_canonical_ac": "Q99PT1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 23407.0, "gene_names": "Arhgdia;5330430M07Rik;Arhgdia;C87222;Gdi-1;Gdi1;Rho GDI alpha;Rho-GDI;RhoDGI;RhoGDI-1;rho GDI 1;rho-GDI alpha", "protein_name": "Rho GDP-dissociation inhibitor 1", "disease": [ { "disease_id": "DOID:0080389", "name": "nephrotic syndrome type 8", "description": "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0080389", "evidence": [ { "id": "0080389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080389" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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 } ], "molecular_function": [ { "name": "Rho GDP-dissociation inhibitor activity", "id": "GO:0005094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005094", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" } ], "biological_process": [ { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99PT1-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" }, { "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": "Q99PT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99PT1" } ] } ] }, { "uniprot_canonical_ac": "Q99PT1-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" } ] } ] }, { "uniprot_canonical_ac": "Q99PT1-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asp185", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "", "comment": "Loss of interaction with CDC42, RHOA and RAC1.", "evidence": [ { "database": "UniProtKB", "id": "Q99PT1", "url": "https://www.uniprot.org/uniprotkb/Q99PT1" }, { "database": "PubMed", "id": "23434736", "url": "https://glygen.org/publication/PubMed/23434736" } ] } ] } ], "record_id": "Q99PT1-1" }, { "uniprot_canonical_ac": "Q9Z0Z7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 446, "chemical_mass": 49754.0, "gene_names": "Klf5;4930520J07Rik;Bteb2;CKLF;IKLF;Iklf;Klf5", "protein_name": "Krueppel-like factor 5", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "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": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "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": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "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": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "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": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "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": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "myotube differentiation involved in skeletal muscle regeneration", "id": "GO:0014908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014908", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "satellite cell activation involved in skeletal muscle regeneration", "id": "GO:0014901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "positive regulation of transcription by transcription factor localization", "id": "GO:0061586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061586", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "MRF binding", "id": "GO:0043426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043426", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0Z7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0Z7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0Z7-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Thr148", "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": 148, "start_aa": "Thr", "end_pos": 148, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr148", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z0Z7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0Z7" }, { "id": "Q9Z0Z7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0Z7" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0Z7-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 174, "start_aa": "Thr", "end_pos": 174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr174", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9Z0Z7-1" }, { "uniprot_canonical_ac": "P06240-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 509, "chemical_mass": 57943.0, "gene_names": "Lck;Hck-3;Lck;Lsk-t;Lskt;Lsk;p56;p56Lck", "protein_name": "Proto-oncogene tyrosine-protein kinase LCK", "disease": [ { "disease_id": "DOID:0111937", "name": "immunodeficiency 22", "description": "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.", "url": "https://disease-ontology.org/term/DOID:0111937", "evidence": [ { "id": "0111937", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111937" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "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 } ], "biological_process": [ { "name": "Fc-gamma receptor signaling pathway", "id": "GO:0038094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038094", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of uterine smooth muscle contraction", "id": "GO:0070474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070474", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "regulation of T cell receptor signaling pathway", "id": "GO:0050856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050856", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "response to metal ion", "id": "GO:0010038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010038", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "regulation of regulatory T cell differentiation", "id": "GO:0045589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045589", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "NK T cell activation", "id": "GO:0051132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051132", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of leukocyte cell-cell adhesion", "id": "GO:1903039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903039", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "CD27 signaling pathway", "id": "GO:0160162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160162", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "positive regulation of multicellular organismal process", "id": "GO:0051240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051240", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "postsynaptic specialization, intracellular component", "id": "GO:0099091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099091", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "CD4 receptor binding", "id": "GO:0042609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042609", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "T cell receptor binding", "id": "GO:0042608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042608", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein antigen binding", "id": "GO:1990405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990405", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "CD8 receptor binding", "id": "GO:0042610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042610", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06240-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Thr159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Tyr192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "P06240", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P06240" }, { "database": "iPTMnet", "id": "P06240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06240" }, { "database": "PubMed", "id": "7997241", "url": "https://glygen.org/publication/PubMed/7997241" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "P06240", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P06240" }, { "database": "iPTMnet", "id": "P06240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06240" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Tyr394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "iPTMnet", "id": "P06240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06240" }, { "database": "PubMed", "id": "11294838", "url": "https://glygen.org/publication/PubMed/11294838" }, { "database": "PubMed", "id": "1311128", "url": "https://glygen.org/publication/PubMed/1311128" }, { "database": "PubMed", "id": "18981123", "url": "https://glygen.org/publication/PubMed/18981123" }, { "database": "PubMed", "id": "2118992", "url": "https://glygen.org/publication/PubMed/2118992" }, { "database": "PubMed", "id": "2250907", "url": "https://glygen.org/publication/PubMed/2250907" }, { "database": "PubMed", "id": "22523384", "url": "https://glygen.org/publication/PubMed/22523384" }, { "database": "PubMed", "id": "33684096", "url": "https://glygen.org/publication/PubMed/33684096" }, { "database": "PubMed", "id": "33888137", "url": "https://glygen.org/publication/PubMed/33888137" }, { "database": "PubMed", "id": "7997241", "url": "https://glygen.org/publication/PubMed/7997241" }, { "database": "PubMed", "id": "8756658", "url": "https://glygen.org/publication/PubMed/8756658" }, { "database": "PubMed", "id": "9658584", "url": "https://glygen.org/publication/PubMed/9658584" }, { "database": "PubMed", "id": "9973453", "url": "https://glygen.org/publication/PubMed/9973453" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Tyr505", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "iPTMnet", "id": "P06240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06240" }, { "database": "PubMed", "id": "16446380", "url": "https://glygen.org/publication/PubMed/16446380" }, { "database": "PubMed", "id": "17277109", "url": "https://glygen.org/publication/PubMed/17277109" }, { "database": "PubMed", "id": "22523384", "url": "https://glygen.org/publication/PubMed/22523384" }, { "database": "PubMed", "id": "2468122", "url": "https://glygen.org/publication/PubMed/2468122" }, { "database": "PubMed", "id": "25595912", "url": "https://glygen.org/publication/PubMed/25595912" }, { "database": "PubMed", "id": "33684096", "url": "https://glygen.org/publication/PubMed/33684096" }, { "database": "PubMed", "id": "7694287", "url": "https://glygen.org/publication/PubMed/7694287" }, { "database": "PubMed", "id": "7997241", "url": "https://glygen.org/publication/PubMed/7997241" }, { "database": "PubMed", "id": "8413300", "url": "https://glygen.org/publication/PubMed/8413300" }, { "database": "PubMed", "id": "8441403", "url": "https://glygen.org/publication/PubMed/8441403" }, { "database": "PubMed", "id": "8756658", "url": "https://glygen.org/publication/PubMed/8756658" }, { "database": "PubMed", "id": "9658584", "url": "https://glygen.org/publication/PubMed/9658584" }, { "database": "PubMed", "id": "9973453", "url": "https://glygen.org/publication/PubMed/9973453" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Causes thymic tumors.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "3380790", "url": "https://glygen.org/publication/PubMed/3380790" }, { "database": "PubMed", "id": "1708890", "url": "https://glygen.org/publication/PubMed/1708890" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P06240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06240" }, { "database": "PubMed", "id": "8077654", "url": "https://glygen.org/publication/PubMed/8077654" }, { "database": "PubMed", "id": "8226850", "url": "https://glygen.org/publication/PubMed/8226850" }, { "database": "PubMed", "id": "8258696", "url": "https://glygen.org/publication/PubMed/8258696" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Cys20", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Complete loss of interaction with CD4 or CD8.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "2107025", "url": "https://glygen.org/publication/PubMed/2107025" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Cys23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Complete loss of interaction with CD4 or CD8.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "2107025", "url": "https://glygen.org/publication/PubMed/2107025" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Val270", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ala271", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Val272", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Lys273", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "1706070", "url": "https://glygen.org/publication/PubMed/1706070" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Leu275", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Lys276", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "V", "comment": "Reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Gly2", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Abolishes myristoylation and palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "7980442", "url": "https://glygen.org/publication/PubMed/7980442" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Cys3", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes plasma membrane association; when associated with S-41. Reduced palmitoylation level.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "7980442", "url": "https://glygen.org/publication/PubMed/7980442" }, { "database": "PubMed", "id": "8413237", "url": "https://glygen.org/publication/PubMed/8413237" } ] } ] }, { "uniprot_canonical_ac": "P06240-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Cys5", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "K", "comment": "Reduced palmitoylation level.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "7980442", "url": "https://glygen.org/publication/PubMed/7980442" }, { "database": "PubMed", "id": "8413237", "url": "https://glygen.org/publication/PubMed/8413237" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes plasma membrane association; when associated with S-21.", "evidence": [ { "database": "UniProtKB", "id": "P06240", "url": "https://www.uniprot.org/uniprotkb/P06240" }, { "database": "PubMed", "id": "7980442", "url": "https://glygen.org/publication/PubMed/7980442" }, { "database": "PubMed", "id": "8413237", "url": "https://glygen.org/publication/PubMed/8413237" } ] } ] } ], "record_id": "P06240-1" }, { "uniprot_canonical_ac": "P26687-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 206, "chemical_mass": 21198.0, "gene_names": "Twist1;M-Twist;Pde;Ska10;Ska;Twist1;Twist;bHLHa38;pdt", "protein_name": "Twist-related protein 1", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0061010", "name": "craniosynostosis 1", "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0061010", "evidence": [ { "id": "0061010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061010" } ], "weight": 0.0 }, { "disease_id": "DOID:0080538", "name": "Sweeney-Cox syndrome", "description": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0080538", "evidence": [ { "id": "0080538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080538" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of double-strand break repair", "id": "GO:2000780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000780", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic camera-type eye formation", "id": "GO:0060900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060900", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cell proliferation involved in heart valve development", "id": "GO:2000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000793", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of macrophage cytokine production", "id": "GO:0010936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010936", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035359", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle tissue development", "id": "GO:0048642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048642", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription initiation", "id": "GO:2000144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000144", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cranial suture morphogenesis", "id": "GO:0060363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060363", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cardiac neural crest cell migration involved in outflow tract morphogenesis", "id": "GO:0003253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003253", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cardiac neural crest cell development involved in outflow tract morphogenesis", "id": "GO:0061309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061309", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation", "id": "GO:2000802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000802", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "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": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity", "id": "GO:0001217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001217", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26687-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Thr125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "P26687", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P26687" }, { "database": "iPTMnet", "id": "P26687", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26687" }, { "database": "PubMed", "id": "21559426", "url": "https://glygen.org/publication/PubMed/21559426" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "P26687", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P26687" }, { "database": "iPTMnet", "id": "P26687", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26687" }, { "database": "PubMed", "id": "21559426", "url": "https://glygen.org/publication/PubMed/21559426" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P26687", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26687" }, { "database": "PubMed", "id": "27281171", "url": "https://glygen.org/publication/PubMed/27281171" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P26687", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26687" }, { "database": "PubMed", "id": "25892968", "url": "https://glygen.org/publication/PubMed/25892968" }, { "database": "PubMed", "id": "31383001", "url": "https://glygen.org/publication/PubMed/31383001" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Glu185", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "E", "sequence_mut": "R", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Arg186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Leu187", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "G", "comment": "Low transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Phe191", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Low transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "F", "sequence_mut": "G", "comment": "Low transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "F", "sequence_mut": "P", "comment": "Low transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "High transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Intermediate transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] }, { "uniprot_canonical_ac": "P26687-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Arg195", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Intermediate transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] }, { "sequence_org": "R", "sequence_mut": "G", "comment": "Low transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P26687", "url": "https://www.uniprot.org/uniprotkb/P26687" }, { "database": "PubMed", "id": "17893140", "url": "https://glygen.org/publication/PubMed/17893140" } ] } ] } ], "record_id": "P26687-1" }, { "uniprot_canonical_ac": "P58463-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 714, "chemical_mass": 79819.0, "gene_names": "Foxp2;2810043D05Rik;CAG-16;D0Kist7;Foxp2", "protein_name": "Forkhead box protein P2", "disease": [ { "disease_id": "DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.", "url": "https://disease-ontology.org/term/DOID:0060038", "evidence": [ { "id": "0060038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0111275", "name": "speech-language disorder-1", "description": "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.", "url": "https://disease-ontology.org/term/DOID:0111275", "evidence": [ { "id": "0111275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111275" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:4186", "name": "articulation disorder", "description": "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.", "url": "https://disease-ontology.org/term/DOID:4186", "evidence": [ { "id": "4186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4186" } ], "weight": 0.0 }, { "disease_id": "DOID:4428", "name": "dyslexia", "description": "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.", "url": "https://disease-ontology.org/term/DOID:4428", "evidence": [ { "id": "4428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4428" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:93", "name": "language disorder", "description": "A communication disorder that involves the processing of linguistic information.", "url": "https://disease-ontology.org/term/DOID:93", "evidence": [ { "id": "93", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:93" } ], "weight": 0.0 } ], "biological_process": [ { "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": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "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": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "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": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell differentiation", "id": "GO:0021702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021702", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "innate vocalization behavior", "id": "GO:0098582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098582", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "caudate nucleus development", "id": "GO:0021757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021757", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "putamen development", "id": "GO:0021758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021758", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071625", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in lung morphogenesis", "id": "GO:0060501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060501", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "vocal learning", "id": "GO:0042297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042297", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58463-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Glu399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "", "comment": "Loss of dimerization. Almost complete loss of DNA-binding. Reduced transcriptional repression activity.", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] } ] }, { "uniprot_canonical_ac": "P58463-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Leu408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Severely reduced transcriptional repression activity.", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] } ] }, { "uniprot_canonical_ac": "P58463-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Arg552", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "No change in synaptic density.", "evidence": [ { "database": "UniProtKB", "id": "P58463", "url": "https://www.uniprot.org/uniprotkb/P58463" }, { "database": "PubMed", "id": "24179158", "url": "https://glygen.org/publication/PubMed/24179158" } ] } ] } ], "record_id": "P58463-1" }, { "uniprot_canonical_ac": "Q8VEG6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 555, "chemical_mass": 63023.0, "gene_names": "Cnot6l;4932442K20Rik;Cnot6l", "protein_name": "CCR4-NOT transcription complex subunit 6-like", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "CCR4-NOT complex", "id": "GO:0030014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030014", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "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": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010606", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:0000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000288", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q8VEG6", "url": "https://www.uniprot.org/uniprotkb/Q8VEG6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VEG6-1" }, { "uniprot_canonical_ac": "Q8K2I1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 437, "chemical_mass": 48820.0, "gene_names": "Fntb;2010013E13Rik;Fntb", "protein_name": "Protein farnesyltransferase subunit beta", "disease": [ { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein farnesyltransferase activity", "id": "GO:0004660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004660", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "acetyltransferase activator activity", "id": "GO:0010698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010698", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "geranylgeranyl diphosphate synthase activity", "id": "GO:0004311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004311", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" } ], "cellular_component": [ { "name": "protein farnesyltransferase complex", "id": "GO:0005965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005965", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "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": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "protein farnesylation", "id": "GO:0018343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018343", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "regulation of fibroblast proliferation", "id": "GO:0048145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048145", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "CAAX-box protein maturation", "id": "GO:0080120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080120", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "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": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "regulation of microtubule-based movement", "id": "GO:0060632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060632", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" }, { "name": "prenylation", "id": "GO:0097354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097354", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2I1-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2I1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2I1" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I1-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Thr436", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2I1", "url": "https://www.uniprot.org/uniprotkb/Q8K2I1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2I1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2I1" } ] } ] } ], "record_id": "Q8K2I1-1" }, { "uniprot_canonical_ac": "Q62059-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3357, "chemical_mass": 366787.0, "gene_names": "Vcan;Cspg2", "protein_name": "Versican core protein", "disease": [ { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "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 } ], "cellular_component": [ { "name": "interphotoreceptor matrix", "id": "GO:0033165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033165", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "perineuronal net", "id": "GO:0072534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072534", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "gel phase of interstitial matrix", "id": "GO:0140150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140150", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "hyaluronic acid binding", "id": "GO:0005540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005540", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activator activity", "id": "GO:0008160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008160", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1181", "end_pos": "1181", "site_lbl": "Thr1181", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1181, "start_aa": "Thr", "end_pos": 1181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1181", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851418", "evidence": [ { "id": "rs46348761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46348761" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1305", "end_pos": "1305", "site_lbl": "Asn1305", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70316RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TQELSTSTPAAGTKFHPDINVYIIEVRENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1305, "start_aa": "Asn", "end_pos": 1305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1305", "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" } ] }, { "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": 1305, "start_aa": "Asn", "end_pos": 1305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1305", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1371", "end_pos": "1371", "site_lbl": "Asn1371", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1371, "start_aa": "Asn", "end_pos": 1371, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1371", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1517", "end_pos": "1517", "site_lbl": "Ser1517", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 1517, "start_aa": "Ser", "end_pos": 1517, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1517", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1599", "end_pos": "1599", "site_lbl": "Ser1599", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 1599, "start_aa": "Ser", "end_pos": 1599, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1599", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1678", "end_pos": "1678", "site_lbl": "Asn1678", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1678, "start_aa": "Asn", "end_pos": 1678, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1678", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1760", "end_pos": "1760", "site_lbl": "Asn1760", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G53434XO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EMANSTPVFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1760, "start_aa": "Asn", "end_pos": 1760, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1760", "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": "Q62059-1", "start_pos": "1907", "end_pos": "1907", "site_lbl": "Ser1907", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 1907, "start_aa": "Ser", "end_pos": 1907, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1907", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1931", "end_pos": "1931", "site_lbl": "Ser1931", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 1931, "start_aa": "Ser", "end_pos": 1931, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1931", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2053", "end_pos": "2053", "site_lbl": "Asn2053", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2053, "start_aa": "Asn", "end_pos": 2053, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2053", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2219", "end_pos": "2219", "site_lbl": "Ser2219", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 2219, "start_aa": "Ser", "end_pos": 2219, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2219", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2226", "end_pos": "2226", "site_lbl": "Ser2226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 2226, "start_aa": "Ser", "end_pos": 2226, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2226", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2243", "end_pos": "2243", "site_lbl": "Asn2243", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2243, "start_aa": "Asn", "end_pos": 2243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2243", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2361", "end_pos": "2361", "site_lbl": "Asn2361", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2361, "start_aa": "Asn", "end_pos": 2361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2361", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2459", "end_pos": "2459", "site_lbl": "Thr2459", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2459, "start_aa": "Thr", "end_pos": 2459, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2459", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2626", "end_pos": "2626", "site_lbl": "Asn2626", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2626, "start_aa": "Asn", "end_pos": 2626, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2626", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2696", "end_pos": "2696", "site_lbl": "Ser2696", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 2696, "start_aa": "Ser", "end_pos": 2696, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2696", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2697", "end_pos": "2697", "site_lbl": "Ser2697", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 2697, "start_aa": "Ser", "end_pos": 2697, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2697", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2741", "end_pos": "2741", "site_lbl": "Ser2741", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 2741, "start_aa": "Ser", "end_pos": 2741, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2741", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3029", "end_pos": "3029", "site_lbl": "Asn3029", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3029, "start_aa": "Asn", "end_pos": 3029, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3029", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3057", "end_pos": "3057", "site_lbl": "Thr3057", "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": 3057, "start_aa": "Thr", "end_pos": 3057, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3057", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q62059", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62059" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Asn330", "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": "FENQTCFPLPDSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "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" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2818" } ] }, { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FENQTCFPLPDSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "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" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2818" } ] }, { "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": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3331", "end_pos": "3331", "site_lbl": "Asn3331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3331, "start_aa": "Asn", "end_pos": 3331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3331", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3341", "end_pos": "3341", "site_lbl": "Asn3341", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3341, "start_aa": "Asn", "end_pos": 3341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3341", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Asn351", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27126ED", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QNISEATTIEMNILAETSSPSLSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 351, "start_aa": "Asn", "end_pos": 351, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn351", "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" } ] }, { "glytoucan_ac": "G72918XU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QNISEATTIEMNILAETSSPSLSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 351, "start_aa": "Asn", "end_pos": 351, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn351", "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" } ] }, { "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": 351, "start_aa": "Asn", "end_pos": 351, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn351", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Asn441", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 441, "start_aa": "Asn", "end_pos": 441, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn441", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14943SF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELPEKNKTPYESTEVTLEHTTEMPTVSASPELATTSHYGFTLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 521, "start_aa": "Asn", "end_pos": 521, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn521", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NKT->TKT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853397", "evidence": [ { "id": "rs260652258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260652258" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Asn57", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59324HL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVLPCHFSTLPTLPPNYNTSEFLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "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" } ] }, { "glytoucan_ac": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVLPCHFSTLPTLPPNYNTSEFLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "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" } ] }, { "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": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Ser660", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 660, "start_aa": "Ser", "end_pos": 660, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser660", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "807", "end_pos": "807", "site_lbl": "Asn807", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G22729NQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WPGDEDNSTSKPLPSTEHAGFTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 807, "start_aa": "Asn", "end_pos": 807, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "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" } ] }, { "glytoucan_ac": "G67350BD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WPGDEDNSTSKPLPSTEHAGFTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 807, "start_aa": "Asn", "end_pos": 807, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "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" } ] }, { "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": 807, "start_aa": "Asn", "end_pos": 807, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Asn914", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 914, "start_aa": "Asn", "end_pos": 914, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn914", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Asn951", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 951, "start_aa": "Asn", "end_pos": 951, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn951", "evidence": [ { "id": "Q62059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62059#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2585", "end_pos": "2585", "site_lbl": "Ser2585", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62059", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62059" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89837789", "evidence": [ { "id": "rs50130912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50130912" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2586", "end_pos": "2586", "site_lbl": "Ser2586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62059", "url": "https://www.uniprot.org/uniprotkb/Q62059" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62059", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62059" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1686", "end_pos": "1686", "site_lbl": "Asp1686", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DKS->NKS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840487", "evidence": [ { "id": "rs50203589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50203589" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1031", "end_pos": "1031", "site_lbl": "Pro1031", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851868", "evidence": [ { "id": "rs253347838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253347838" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1058", "end_pos": "1058", "site_lbl": "Thr1058", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851787", "evidence": [ { "id": "rs240183110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240183110" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Thr105", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873539", "evidence": [ { "id": "rs3389307551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389307551" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1064", "end_pos": "1064", "site_lbl": "Gly1064", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851768", "evidence": [ { "id": "rs46133618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46133618" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1078", "end_pos": "1078", "site_lbl": "Thr1078", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851726", "evidence": [ { "id": "rs3389268713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268713" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Pro1080", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851721", "evidence": [ { "id": "rs3389291164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291164" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Val110", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873525", "evidence": [ { "id": "rs3389296001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296001" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1127", "end_pos": "1127", "site_lbl": "Ser1127", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851579", "evidence": [ { "id": "rs3389295956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295956" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1129", "end_pos": "1129", "site_lbl": "Thr1129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851573", "evidence": [ { "id": "rs3389298568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298568" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1144", "end_pos": "1144", "site_lbl": "Gln1144", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851529", "evidence": [ { "id": "rs3389298605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298605" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Phe1168", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851457", "evidence": [ { "id": "rs3389307468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389307468" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1192", "end_pos": "1192", "site_lbl": "Asp1192", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851385", "evidence": [ { "id": "rs239509809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239509809" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1201", "end_pos": "1201", "site_lbl": "Ser1201", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851356", "evidence": [ { "id": "rs52066351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52066351" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1222", "end_pos": "1222", "site_lbl": "Thr1222", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851295", "evidence": [ { "id": "rs245366172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245366172" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Glu1229", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851272", "evidence": [ { "id": "rs3389279794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279794" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Val1243", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851232", "evidence": [ { "id": "rs213829560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213829560" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Met1245", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851226", "evidence": [ { "id": "rs1133316972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133316972" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1247", "end_pos": "1247", "site_lbl": "Thr1247", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851220", "evidence": [ { "id": "rs1134837089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134837089" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1256", "end_pos": "1256", "site_lbl": "Ser1256", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851193", "evidence": [ { "id": "rs3389279809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279809" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1264", "end_pos": "1264", "site_lbl": "Thr1264", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851168", "evidence": [ { "id": "rs3389291203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291203" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1295", "end_pos": "1295", "site_lbl": "Ile1295", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851074", "evidence": [ { "id": "rs3389293388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293388" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1330", "end_pos": "1330", "site_lbl": "Cys1330", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841554", "evidence": [ { "id": "rs3404642720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404642720" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1345", "end_pos": "1345", "site_lbl": "Leu1345", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89833201", "evidence": [ { "id": "rs3389298466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298466" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1361", "end_pos": "1361", "site_lbl": "Glu1361", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841460", "evidence": [ { "id": "rs217730551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217730551" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1362", "end_pos": "1362", "site_lbl": "Asp1362", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841459", "evidence": [ { "id": "rs248268770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248268770" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Glu1367", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841445_89841446insACACTACCTCAACCAT", "evidence": [ { "id": "rs3389268735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268735" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1368", "end_pos": "1368", "site_lbl": "Asp1368", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841439", "evidence": [ { "id": "rs3389302536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389302536" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Val1370", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841435", "evidence": [ { "id": "rs3389223390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223390" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841435", "evidence": [ { "id": "rs3389223390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223390" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1432", "end_pos": "1432", "site_lbl": "Thr1432", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841248", "evidence": [ { "id": "rs251977249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251977249" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1447", "end_pos": "1447", "site_lbl": "Thr1447", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841203", "evidence": [ { "id": "rs3389295997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295997" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1463", "end_pos": "1463", "site_lbl": "Pro1463", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841155", "evidence": [ { "id": "rs262260074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262260074" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1486", "end_pos": "1486", "site_lbl": "Arg1486", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841086", "evidence": [ { "id": "rs48447679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48447679" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1495", "end_pos": "1495", "site_lbl": "Ser1495", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841059", "evidence": [ { "id": "rs3389287984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389287984" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1515", "end_pos": "1515", "site_lbl": "Glu1515", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840998", "evidence": [ { "id": "rs1135005468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135005468" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1523", "end_pos": "1523", "site_lbl": "Glu1523", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840974", "evidence": [ { "id": "rs3389298645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298645" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1542", "end_pos": "1542", "site_lbl": "Glu1542", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840917", "evidence": [ { "id": "rs3389261545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261545" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1549", "end_pos": "1549", "site_lbl": "Leu1549", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840896", "evidence": [ { "id": "rs3389223363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223363" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1560", "end_pos": "1560", "site_lbl": "Ser1560", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840864", "evidence": [ { "id": "rs49992479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49992479" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1561", "end_pos": "1561", "site_lbl": "Val1561", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840861", "evidence": [ { "id": "rs240694419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240694419" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1616", "end_pos": "1616", "site_lbl": "Asn1616", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840697", "evidence": [ { "id": "rs244226921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244226921" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1631", "end_pos": "1631", "site_lbl": "Asp1631", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840650", "evidence": [ { "id": "rs3389291206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291206" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1639", "end_pos": "1639", "site_lbl": "Leu1639", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840628", "evidence": [ { "id": "rs256352451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256352451" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "Ile1651", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840591", "evidence": [ { "id": "rs236525154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236525154" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Gln170", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89870002", "evidence": [ { "id": "rs221321384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221321384" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1783", "end_pos": "1783", "site_lbl": "Ser1783", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840196", "evidence": [ { "id": "rs3389261496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261496" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1923", "end_pos": "1923", "site_lbl": "Glu1923", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89836896", "evidence": [ { "id": "rs258500304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258500304" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1927", "end_pos": "1927", "site_lbl": "Gly1927", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89839763", "evidence": [ { "id": "rs227414073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227414073" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "1980", "end_pos": "1980", "site_lbl": "Ala1980", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89836724", "evidence": [ { "id": "rs218681867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218681867" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Arg214", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89869793", "evidence": [ { "id": "rs3389293183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293183" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2180", "end_pos": "2180", "site_lbl": "Ala2180", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89839004", "evidence": [ { "id": "rs49636461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49636461" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2441", "end_pos": "2441", "site_lbl": "Glu2441", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89838222", "evidence": [ { "id": "rs3389293176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293176" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2492", "end_pos": "2492", "site_lbl": "Gly2492", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89838068", "evidence": [ { "id": "rs3389296026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296026" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2495", "end_pos": "2495", "site_lbl": "Asp2495", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89838059", "evidence": [ { "id": "rs222264081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222264081" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2719", "end_pos": "2719", "site_lbl": "Glu2719", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89837386", "evidence": [ { "id": "rs222313731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222313731" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "2735", "end_pos": "2735", "site_lbl": "Phe2735", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89837340", "evidence": [ { "id": "rs252250557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252250557" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3006", "end_pos": "3006", "site_lbl": "Thr3006", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89836526", "evidence": [ { "id": "rs46831150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46831150" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Leu363", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853871", "evidence": [ { "id": "rs3389293214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293214" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Val378", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853827", "evidence": [ { "id": "rs1134098411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134098411" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ile3", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89879641", "evidence": [ { "id": "rs255971427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255971427" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ile405", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853746", "evidence": [ { "id": "rs3389268760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268760" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Lys411", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853726", "evidence": [ { "id": "rs3389302604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389302604" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Gly421", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853697", "evidence": [ { "id": "rs263703424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263703424" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Arg432", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853665", "evidence": [ { "id": "rs49570815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49570815" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Glu461", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853577", "evidence": [ { "id": "rs3389307505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389307505" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853562", "evidence": [ { "id": "rs3389302577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389302577" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Thr467", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853559", "evidence": [ { "id": "rs3389293179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293179" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Val480", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853520", "evidence": [ { "id": "rs250086155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250086155" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853515", "evidence": [ { "id": "rs46182327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46182327" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Asp484", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853509", "evidence": [ { "id": "rs3389298590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298590" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853505", "evidence": [ { "id": "rs3389298276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298276" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89841203", "evidence": [ { "id": "rs3389295997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295997" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853485", "evidence": [ { "id": "rs47021961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47021961" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Pro518", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853407", "evidence": [ { "id": "rs3389287983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389287983" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Val541", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853338", "evidence": [ { "id": "rs46460209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46460209" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ala548", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853317", "evidence": [ { "id": "rs47725912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47725912" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853311", "evidence": [ { "id": "rs3389291215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291215" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Glu563", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840974", "evidence": [ { "id": "rs3389298645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298645" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853271", "evidence": [ { "id": "rs3389307470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389307470" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Asp564", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853268", "evidence": [ { "id": "rs233773357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233773357" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ser579", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853223", "evidence": [ { "id": "rs3389293393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293393" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Gln580", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853220", "evidence": [ { "id": "rs214231185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214231185" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Pro582", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853214", "evidence": [ { "id": "rs244875161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244875161" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Ile585", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853206", "evidence": [ { "id": "rs3389298658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298658" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Gln598", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853165", "evidence": [ { "id": "rs3389293227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293227" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Leu619", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89853103", "evidence": [ { "id": "rs261470875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261470875" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Leu657", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852990", "evidence": [ { "id": "rs3389279779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279779" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Asp662", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852974", "evidence": [ { "id": "rs3389279773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279773" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Thr664", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852969", "evidence": [ { "id": "rs233158795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233158795" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ser676", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852933", "evidence": [ { "id": "rs48658210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48658210" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Arg685", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852906", "evidence": [ { "id": "rs3389291135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291135" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "766", "end_pos": "766", "site_lbl": "Thr766", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852662", "evidence": [ { "id": "rs261156587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261156587" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852663", "evidence": [ { "id": "rs220591422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220591422" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Glu805", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840250", "evidence": [ { "id": "rs3389296038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296038" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Asp806", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852541", "evidence": [ { "id": "rs242686489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242686489" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ser815", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852516", "evidence": [ { "id": "rs253406210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253406210" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873612", "evidence": [ { "id": "rs216743722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216743722" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "823", "end_pos": "823", "site_lbl": "Lys823", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852492", "evidence": [ { "id": "rs3389298435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298435" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Val827", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852480", "evidence": [ { "id": "rs3389279807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279807" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Asp838", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852445", "evidence": [ { "id": "rs29929323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29929323" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Asp846", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852423", "evidence": [ { "id": "rs3389302559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389302559" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Gly849", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852413", "evidence": [ { "id": "rs46673808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46673808" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "852", "end_pos": "852", "site_lbl": "Thr852", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89840108", "evidence": [ { "id": "rs3389261521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261521" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Gly894", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852278", "evidence": [ { "id": "rs235333566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235333566" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "917", "end_pos": "917", "site_lbl": "Ala917", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852209", "evidence": [ { "id": "rs51756725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51756725" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Ser929", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852174", "evidence": [ { "id": "rs47122777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47122777" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Ala948", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852117", "evidence": [ { "id": "rs255572866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255572866" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Gln95", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873570", "evidence": [ { "id": "rs3389298565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389298565" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asp96", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873568_89873569insACACTACCTCAACCAT", "evidence": [ { "id": "rs3389288016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389288016" } ] }, { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89873565", "evidence": [ { "id": "rs3411968322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411968322" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "982", "end_pos": "982", "site_lbl": "Glu982", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89852015", "evidence": [ { "id": "rs218303390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218303390" } ] } ] }, { "uniprot_canonical_ac": "Q62059-1", "start_pos": "996", "end_pos": "996", "site_lbl": "Asp996", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "13", "chr_pos": "89851971", "evidence": [ { "id": "rs266246777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs266246777" } ] } ] } ], "record_id": "Q62059-1" }, { "uniprot_canonical_ac": "Q9CXM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 30331.0, "gene_names": "Chodl;3110074E07Rik;Chodl;MT75;PRED12", "protein_name": "Chondrolectin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9CXM0", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LIESMLQNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "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" } ] }, { "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": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "Q9CXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CXM0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Lys251", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KTS->NTS); glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78747260", "evidence": [ { "id": "rs3389417362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389417362" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Cys115", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738376", "evidence": [ { "id": "rs3389424418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424418" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Asp123", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738400", "evidence": [ { "id": "rs3389422350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422350" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738409", "evidence": [ { "id": "rs3389430132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389430132" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ala12", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78728291", "evidence": [ { "id": "rs3508095111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508095111" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asn131", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738536", "evidence": [ { "id": "rs3389339676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389339676" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Glu142", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738570", "evidence": [ { "id": "rs3389422351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422351" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738570", "evidence": [ { "id": "rs3389422351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422351" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Met147", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738586", "evidence": [ { "id": "rs3389371906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371906" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Leu162", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738629", "evidence": [ { "id": "rs33387318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33387318" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738668", "evidence": [ { "id": "rs3389426263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426263" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Lys179", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738682", "evidence": [ { "id": "rs3389413804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413804" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78743650", "evidence": [ { "id": "rs3389430171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389430171" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78743651", "evidence": [ { "id": "rs3389371945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371945" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Val30", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738121", "evidence": [ { "id": "rs3508099399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508099399" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ala5", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78728269", "evidence": [ { "id": "rs212093839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212093839" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78728273", "evidence": [ { "id": "rs235092047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235092047" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Glu74", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738255", "evidence": [ { "id": "rs3389424334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424334" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Gln85", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738287", "evidence": [ { "id": "rs3389433699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433699" } ] } ] }, { "uniprot_canonical_ac": "Q9CXM0-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ile94", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 1 receptor.", "chr_id": "16", "chr_pos": "78738313", "evidence": [ { "id": "rs3407182694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407182694" } ] } ] } ], "record_id": "Q9CXM0-1" }, { "uniprot_canonical_ac": "Q8R344-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 166, "chemical_mass": 18891.0, "gene_names": "Ccdc12;2700094L05Rik;Ccdc12", "protein_name": "Coiled-coil domain-containing protein 12", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R344-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" } ] } ] }, { "uniprot_canonical_ac": "Q8R344-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R344", "url": "https://www.uniprot.org/uniprotkb/Q8R344" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R344" } ] } ] } ], "record_id": "Q8R344-1" }, { "uniprot_canonical_ac": "Q80TY0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 616, "chemical_mass": 71344.0, "gene_names": "Fnbp1;1110057E06Rik;2210010H06Rik;FBP1;Fbp17;Fnbp1;Kiaa0554", "protein_name": "Formin-binding protein 1", "disease": [], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80TY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q80TY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Tyr499", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q80TY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TY0" } ] } ] }, { "uniprot_canonical_ac": "Q80TY0-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TY0", "url": "https://www.uniprot.org/uniprotkb/Q80TY0" } ] } ] } ], "record_id": "Q80TY0-1" }, { "uniprot_canonical_ac": "Q9JLQ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 708, "chemical_mass": 78766.0, "gene_names": "Git2;1500036H07Rik;5830420E16Rik;6430510B20Rik;9630056M03Rik;B230104M05Rik;CAT2;Git2;mKIAA0148", "protein_name": "ARF GTPase-activating protein GIT2", "disease": [], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "distal axon", "id": "GO:0150034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150034", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" } ], "biological_process": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "regulation of ARF protein signal transduction", "id": "GO:0032012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032012", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "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": 500, "start_aa": "Ser", "end_pos": 500, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser500", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JLQ2" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JLQ2" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Thr504", "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": 504, "start_aa": "Thr", "end_pos": 504, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr504", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JLQ2" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JLQ2" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TSS->NSS); o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "114875476", "evidence": [ { "id": "rs3396093968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396093968" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "5", "chr_pos": "114875477", "evidence": [ { "id": "rs3395898912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395898912" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Ser505", "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": 505, "start_aa": "Ser", "end_pos": 505, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser505", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JLQ2" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JLQ2" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "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": 508, "start_aa": "Ser", "end_pos": 508, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser508", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9JLQ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JLQ2" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "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": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Thr400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Ser519", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Thr536", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ2-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ser563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ2", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ2" } ] } ] } ], "record_id": "Q9JLQ2-1" }, { "uniprot_canonical_ac": "Q99KY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1305, "chemical_mass": 143641.0, "gene_names": "Gak;D130045N16Rik;Gak", "protein_name": "Cyclin-G-associated kinase", "disease": [ { "disease_id": "DOID:0060891", "name": "Parkinson's disease 19A", "description": "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0060891", "evidence": [ { "id": "0060891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060891" } ], "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 } ], "biological_process": [ { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "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": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "Golgi to lysosome transport", "id": "GO:0090160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090160", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "intracellular transport", "id": "GO:0046907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046907", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "clathrin coat disassembly", "id": "GO:0072318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072318", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "intrahepatic bile duct development", "id": "GO:0035622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035622", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "regulation of clathrin coat assembly", "id": "GO:1905443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905443", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Thr1044", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1044, "start_aa": "Thr", "end_pos": 1044, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1044", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "1244", "end_pos": "1244", "site_lbl": "Thr1244", "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": 1244, "start_aa": "Thr", "end_pos": 1244, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1244", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q99KY4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KY4" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "1247", "end_pos": "1247", "site_lbl": "Ser1247", "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": 1247, "start_aa": "Ser", "end_pos": 1247, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1247", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q99KY4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Asn221", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NTTPMYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 221, "start_aa": "Asn", "end_pos": 221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn221", "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": "Q99KY4-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Asn281", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G11738SE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YSIPVNDTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->*DT).", "chr_id": "5", "chr_pos": "108754785_108754786insCTGTGAATGACACTCGT", "evidence": [ { "id": "rs3411467089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411467089" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->TDT).", "chr_id": "5", "chr_pos": "108754783", "evidence": [ { "id": "rs3388766228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388766228" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Asn452", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MFLDAKHPGHYAVYNLSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 452, "start_aa": "Asn", "end_pos": 452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn452", "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" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 452, "start_aa": "Asn", "end_pos": 452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn452", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2244", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2244" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "722", "end_pos": "722", "site_lbl": "Asn722", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSREAPPWENTSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 722, "start_aa": "Asn", "end_pos": 722, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn722", "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": "Q99KY4-1", "start_pos": "1171", "end_pos": "1171", "site_lbl": "Ser1171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Ser768", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Thr774", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Ser781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Thr792", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Ser809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99KY4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Ser827", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" }, { "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": "Q99KY4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Ser938", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KY4", "url": "https://www.uniprot.org/uniprotkb/Q99KY4" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "1300", "end_pos": "1300", "site_lbl": "Gly1300", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQG->NQS).", "chr_id": "5", "chr_pos": "108717741", "evidence": [ { "id": "rs3388778128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778128" } ] } ] }, { "uniprot_canonical_ac": "Q99KY4-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Asp203", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "5", "chr_pos": "108761423", "evidence": [ { "id": "rs3388780406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388780406" } ] } ] } ], "record_id": "Q99KY4-1" }, { "uniprot_canonical_ac": "Q810L3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 664, "chemical_mass": 73871.0, "gene_names": "Chfr;5730484M20Rik;C230082M18;Chfr;RNF116", "protein_name": "E3 ubiquitin-protein ligase CHFR", "disease": [], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "meiotic spindle checkpoint signaling", "id": "GO:0044779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044779", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q810L3-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Thr385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q810L3", "url": "https://www.uniprot.org/uniprotkb/Q810L3" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q810L3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q810L3" } ] } ] } ], "record_id": "Q810L3-1" }, { "uniprot_canonical_ac": "P56671-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 477, "chemical_mass": 48770.0, "gene_names": "Maz", "protein_name": "Myc-associated zinc finger protein", "disease": [], "biological_process": [ { "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": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "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": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "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": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "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": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "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": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "termination of RNA polymerase II transcription", "id": "GO:0006369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006369", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56671-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "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": 141, "start_aa": "Ser", "end_pos": 141, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser141", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P56671", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P56671" } ] } ] }, { "uniprot_canonical_ac": "P56671-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Thr162", "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": 162, "start_aa": "Thr", "end_pos": 162, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr162", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P56671", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P56671" } ] } ] }, { "uniprot_canonical_ac": "P56671-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Thr72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Thr", "end_pos": 72, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr72", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P56671-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56671", "url": "https://www.uniprot.org/uniprotkb/P56671" } ] } ] } ], "record_id": "P56671-1" }, { "uniprot_canonical_ac": "Q8CFX1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 789, "chemical_mass": 88928.0, "gene_names": "H6pd;G6pd1;Gpd-1;Gpd1;H6pd", "protein_name": "GDH/6PGL endoplasmic bifunctional protein", "disease": [ { "disease_id": "DOID:0090139", "name": "cortisone reductase deficiency", "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.", "url": "https://disease-ontology.org/term/DOID:0090139", "evidence": [ { "id": "0090139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090139" } ], "weight": 0.0 }, { "disease_id": "DOID:0090141", "name": "cortisone reductase deficiency 1", "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0090141", "evidence": [ { "id": "0090141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090141" } ], "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 } ], "biological_process": [ { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "regulation of cortisol biosynthetic process", "id": "GO:2000064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000064", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" } ], "molecular_function": [ { "name": "6-phosphogluconolactonase activity", "id": "GO:0017057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017057", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase (NAD+) activity", "id": "GO:0047934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047934", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase (NADP+) activity", "id": "GO:0047935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047935", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase [NAD(P)+] activity", "id": "GO:0047936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047936", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on CH-OH group of donors", "id": "GO:0016614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016614", "evidence": [ { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Asn154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2334", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2334" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2334", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2334" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NINSSCRPHPGAWLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "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" } ] }, { "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": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "Q8CFX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "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": 155, "start_aa": "Ser", "end_pos": 155, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser155", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8CFX1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CFX1" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "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": 156, "start_aa": "Ser", "end_pos": 156, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser156", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8CFX1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CFX1" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asn279", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "Q8CFX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Asn681", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 681, "start_aa": "Asn", "end_pos": 681, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn681", "evidence": [ { "id": "Q8CFX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Tyr105", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080506", "evidence": [ { "id": "rs3388725656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725656" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Arg106", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080503", "evidence": [ { "id": "rs3395144779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395144779" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Tyr114", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080478", "evidence": [ { "id": "rs3388740965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740965" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Pro161", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080338", "evidence": [ { "id": "rs3388738209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738209" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asp200", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080220", "evidence": [ { "id": "rs3388735563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735563" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ile211", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150079031", "evidence": [ { "id": "rs3388728722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728722" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asn218", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150079009", "evidence": [ { "id": "rs3388733646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733646" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Arg247", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068626_150068627insTCGTGTCACTCAGG", "evidence": [ { "id": "rs3395090096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395090096" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Thr270", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068557", "evidence": [ { "id": "rs5526921592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526921592" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Met274", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068544", "evidence": [ { "id": "rs3388733592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733592" } ] }, { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068545", "evidence": [ { "id": "rs3388728749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728749" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Leu27", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080741", "evidence": [ { "id": "rs3388729071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729071" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ala285", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068513", "evidence": [ { "id": "rs3394799854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394799854" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Trp292", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068492", "evidence": [ { "id": "rs3543208053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543208053" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ala293", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150068513", "evidence": [ { "id": "rs3394799854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394799854" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Lys36", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080713", "evidence": [ { "id": "rs3413019782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413019782" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ala374", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067264", "evidence": [ { "id": "rs3543066361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543066361" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Val384", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067234", "evidence": [ { "id": "rs3388736088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388736088" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Pro385", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067232", "evidence": [ { "id": "rs3388738176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738176" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ala408", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067162", "evidence": [ { "id": "rs3388725659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725659" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Trp40", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080700", "evidence": [ { "id": "rs3388721600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721600" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Thr422", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067120", "evidence": [ { "id": "rs3388735891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735891" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Lys424", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067114", "evidence": [ { "id": "rs3542998914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542998914" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Arg439", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067070", "evidence": [ { "id": "rs3413011311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413011311" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Pro449", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067039", "evidence": [ { "id": "rs3388721556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721556" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Val450", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067037", "evidence": [ { "id": "rs3388738138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738138" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Tyr456", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150067017", "evidence": [ { "id": "rs3388735842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735842" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ile472", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066971", "evidence": [ { "id": "rs3388738205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738205" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Leu491", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066914", "evidence": [ { "id": "rs3388719445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719445" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Pro498", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066892", "evidence": [ { "id": "rs3388735908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735908" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Leu509", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066859", "evidence": [ { "id": "rs3388738167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738167" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gly515", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066841", "evidence": [ { "id": "rs3388740963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740963" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gly52", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080665", "evidence": [ { "id": "rs3388735878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735878" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Pro536", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066778", "evidence": [ { "id": "rs3388733866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733866" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Lys564", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066694", "evidence": [ { "id": "rs3388738230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738230" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ser567", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066685", "evidence": [ { "id": "rs3543087172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543087172" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ile569", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066680", "evidence": [ { "id": "rs3388735856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735856" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Phe57", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080650", "evidence": [ { "id": "rs3388735841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735841" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080647", "evidence": [ { "id": "rs3388725630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725630" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Ala595", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066601", "evidence": [ { "id": "rs3388738191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738191" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Trp609", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066560", "evidence": [ { "id": "rs3388733858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733858" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080639", "evidence": [ { "id": "rs5526910310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526910310" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Gln632", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066489", "evidence": [ { "id": "rs3388738231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738231" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Gln640", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066489", "evidence": [ { "id": "rs3388738231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738231" }, { "id": "rs3543067198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543067198" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Leu64", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080630", "evidence": [ { "id": "rs3388738197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738197" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "655", "end_pos": "655", "site_lbl": "His655", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066420", "evidence": [ { "id": "rs3395145737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395145737" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Leu656", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066419", "evidence": [ { "id": "rs3394535984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394535984" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Gln658", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066412", "evidence": [ { "id": "rs3388735570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735570" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Gln666", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066412", "evidence": [ { "id": "rs3388735570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735570" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Gln725", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066210", "evidence": [ { "id": "rs3395069358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395069358" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Leu743", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066157", "evidence": [ { "id": "rs3388735585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735585" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Val77", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080590", "evidence": [ { "id": "rs3394813109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394813109" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Met782", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150066041", "evidence": [ { "id": "rs3388738152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388738152" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Arg91", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080548", "evidence": [ { "id": "rs3507764644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507764644" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asp93", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080541", "evidence": [ { "id": "rs3388719415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719415" } ] } ] }, { "uniprot_canonical_ac": "Q8CFX1-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Phe99", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "4", "chr_pos": "150080523", "evidence": [ { "id": "rs3388721636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721636" } ] } ] } ], "record_id": "Q8CFX1-1" }, { "uniprot_canonical_ac": "Q6P5H6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 517, "chemical_mass": 58583.0, "gene_names": "Frmd5;1500032A09Rik;A930004K21Rik;Frmd5", "protein_name": "FERM domain-containing protein 5", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081275", "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia", "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.", "url": "https://disease-ontology.org/term/DOID:0081275", "evidence": [ { "id": "0081275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081275" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" }, { "name": "negative regulation of cell motility", "id": "GO:2000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000146", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P5H6-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Thr276", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 276, "start_aa": "Thr", "end_pos": 276, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr276", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P5H6-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Thr433", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 433, "start_aa": "Thr", "end_pos": 433, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr433", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P5H6-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5H6", "url": "https://www.uniprot.org/uniprotkb/Q6P5H6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P5H6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P5H6" } ] } ] }, { "uniprot_canonical_ac": "Q6P5H6-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Lys166", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KHS->NHS).", "chr_id": "2", "chr_pos": "121404079", "evidence": [ { "id": "rs3388580761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388580761" } ] } ] } ], "record_id": "Q6P5H6-1" }, { "uniprot_canonical_ac": "A2A432-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 970, "chemical_mass": 110699.0, "gene_names": "Cul4b;2700050M05Rik;CUL-4B;Cul4b;Kiaa0695;mKIAA0695", "protein_name": "Cullin-4B", "disease": [ { "disease_id": "DOID:0060822", "name": "syndromic X-linked intellectual disability Cabezas type", "description": "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.", "url": "https://disease-ontology.org/term/DOID:0060822", "evidence": [ { "id": "0060822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060822" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Cul4A-RING E3 ubiquitin ligase complex", "id": "GO:0031464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031464", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "Cul4B-RING E3 ubiquitin ligase complex", "id": "GO:0031465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031465", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "Cul4-RING E3 ubiquitin ligase complex", "id": "GO:0080008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080008", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" } ], "biological_process": [ { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "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": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "UV-damage excision repair", "id": "GO:0070914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070914", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" } ], "molecular_function": [ { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" }, { "name": "ubiquitin ligase complex scaffold activity", "id": "GO:0160072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160072", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A432-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Thr", "end_pos": 140, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr140", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "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": 236, "start_aa": "Ser", "end_pos": 236, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser236", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2A432", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "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": 237, "start_aa": "Ser", "end_pos": 237, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser237", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "A2A432", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Thr53", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 53, "start_aa": "Thr", "end_pos": 53, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr53", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "X", "chr_pos": "37653887", "evidence": [ { "id": "rs3409888880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409888880" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Thr106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A432", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A432", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Thr15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A432", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A432", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Thr202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A432", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A432" } ] } ] }, { "uniprot_canonical_ac": "A2A432-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A432", "url": "https://www.uniprot.org/uniprotkb/A2A432" } ] } ] } ], "record_id": "A2A432-1" }, { "uniprot_canonical_ac": "P30999-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 938, "chemical_mass": 104925.0, "gene_names": "Ctnnd1;Catns;Ctnnd1;Ctnnd;Kiaa0384;P120;mKIAA0384", "protein_name": "Catenin delta-1", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080346", "name": "blepharocheilodontic syndrome 2", "description": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.", "url": "https://disease-ontology.org/term/DOID:0080346", "evidence": [ { "id": "0080346", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080346" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of D-glucose transmembrane transport", "id": "GO:0010829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010829", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "negative regulation of intracellular signal transduction", "id": "GO:1902532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902532", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "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": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine autophosphorylation", "id": "GO:1900086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900086", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "glomerulus morphogenesis", "id": "GO:0072102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072102", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in salivary gland development", "id": "GO:0060690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060690", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell-cell junction", "id": "GO:0150107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150107", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "negative regulation of blood vessel branching", "id": "GO:1905554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905554", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "flotillin complex", "id": "GO:0016600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016600", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "zonula adherens", "id": "GO:0005915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005915", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "phosphatase inhibitor activity", "id": "GO:0019212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019212", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P30999-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Asn434", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 434, "start_aa": "Asn", "end_pos": 434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn434", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2420", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2420" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 434, "start_aa": "Asn", "end_pos": 434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn434", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2420", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2420" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 434, "start_aa": "Asn", "end_pos": 434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn434", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2420", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2420" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 434, "start_aa": "Asn", "end_pos": 434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn434", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2420", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2420" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 434, "start_aa": "Asn", "end_pos": 434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn434", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2420", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2420" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "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": 47, "start_aa": "Ser", "end_pos": 47, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser47", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P30999", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30999" }, { "id": "20665223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20665223" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Asn57", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23505EP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VRVSPQDANSLMANGTLTRR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "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": "P30999-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Asn641", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15127JD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KPTEDPANDTVDFPKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 641, "start_aa": "Asn", "end_pos": 641, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn641", "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": "P30999-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Asn903", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLDNNYSTLNERGDHNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 903, "start_aa": "Asn", "end_pos": 903, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn903", "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": "P30999-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Asn914", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLDNNYSTLNERGDHNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 914, "start_aa": "Asn", "end_pos": 914, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn914", "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": "P30999-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Tyr112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Tyr217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Tyr221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Tyr228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" }, { "database": "PubMed", "id": "23978243", "url": "https://glygen.org/publication/PubMed/23978243" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Tyr257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "IntAct", "id": "P30999", "url": "https://www.ebi.ac.uk/intact/interactors/id:P30999*" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" }, { "database": "PubMed", "id": "18515860", "url": "https://glygen.org/publication/PubMed/18515860" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Tyr280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "IntAct", "id": "P30999", "url": "https://www.ebi.ac.uk/intact/interactors/id:P30999*" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" }, { "database": "PubMed", "id": "18515860", "url": "https://glygen.org/publication/PubMed/18515860" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Ser288", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Tyr291", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Tyr335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" }, { "database": "PubMed", "id": "35996230", "url": "https://glygen.org/publication/PubMed/35996230" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Ser346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Thr59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Ser713", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "811", "end_pos": "811", "site_lbl": "Ser811", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Ser847", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Ser857", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ser861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "864", "end_pos": "864", "site_lbl": "Ser864", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "865", "end_pos": "865", "site_lbl": "Tyr865", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Ser868", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Thr869", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Ser879", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P20444-1", "kinase_gene_name": "Prkca", "evidence": [ { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" }, { "database": "PubMed", "id": "22798526", "url": "https://glygen.org/publication/PubMed/22798526" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "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": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "904", "end_pos": "904", "site_lbl": "Tyr904", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Thr906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Thr916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" } ] } ] }, { "uniprot_canonical_ac": "P30999-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Ser920", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30999", "url": "https://www.uniprot.org/uniprotkb/P30999" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P30999", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30999" } ] } ] } ], "record_id": "P30999-1" }, { "uniprot_canonical_ac": "Q99KN9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 631, "chemical_mass": 68513.0, "gene_names": "Clint1;Enth;Epn4;Epnr;Kiaa0171", "protein_name": "Clathrin interactor 1", "disease": [], "cellular_component": [ { "name": "clathrin vesicle coat", "id": "GO:0030125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030125", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23763WX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGSERVVTSAREHIYDLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "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": "Q99KN9-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Thr273", "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": 273, "start_aa": "Thr", "end_pos": 273, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr273", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "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": 307, "start_aa": "Ser", "end_pos": 307, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser307", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q99KN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KN9" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "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": 320, "start_aa": "Ser", "end_pos": 320, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser320", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ser327", "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": 327, "start_aa": "Ser", "end_pos": 327, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser327", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q99KN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KN9" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "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": 328, "start_aa": "Ser", "end_pos": 328, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser328", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q99KN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KN9" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ser630", "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": 630, "start_aa": "Ser", "end_pos": 630, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser630", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q99KN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KN9" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "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": 90, "start_aa": "Ser", "end_pos": 90, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser90", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q99KN9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q99KN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99KN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] }, { "uniprot_canonical_ac": "Q99KN9-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Thr316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KN9", "url": "https://www.uniprot.org/uniprotkb/Q99KN9" } ] } ] } ], "record_id": "Q99KN9-1" }, { "uniprot_canonical_ac": "P35803-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 328, "chemical_mass": 36210.0, "gene_names": "Gpm6b;Gpm6b;Gpm6;M6B;M6b", "protein_name": "Neuronal membrane glycoprotein M6-b", "disease": [ { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of myelin sheath", "id": "GO:0019911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019911", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "central nervous system myelination", "id": "GO:0022010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022010", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "negative regulation of protein localization to cell surface", "id": "GO:2000009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000009", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "negative regulation of serotonin uptake", "id": "GO:0051612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051612", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35803-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "P35803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35803#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35803-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G12745LE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPQSNGTSGVEQICVDVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "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" } ] }, { "glytoucan_ac": "G37818NZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPQSNGTSGVEQICVDVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2551", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2551" } ] }, { "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": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "evidence": [ { "id": "P35803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35803#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35803-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35803", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35803" } ] } ] }, { "uniprot_canonical_ac": "P35803-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "P35803", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P35803" }, { "database": "iPTMnet", "id": "P35803", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35803" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "P35803-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35803", "url": "https://www.uniprot.org/uniprotkb/P35803" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35803", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35803" } ] } ] }, { "uniprot_canonical_ac": "P35803-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Thr219", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGP).", "chr_id": "X", "chr_pos": "165163113", "evidence": [ { "id": "rs3412544735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412544735" } ] } ] } ], "record_id": "P35803-1" }, { "uniprot_canonical_ac": "Q8CGZ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 936, "chemical_mass": 106169.0, "gene_names": "Cherp;5730408I11Rik;Cherp;D8Wsu96e;DAN16;Scaf6", "protein_name": "Calcium homeostasis endoplasmic reticulum protein", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Thr102", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 102, "start_aa": "Thr", "end_pos": 102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr102", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Thr378", "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": 378, "start_aa": "Thr", "end_pos": 378, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr378", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q8CGZ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGZ0" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Thr828", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 828, "start_aa": "Thr", "end_pos": 828, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr828", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Tyr723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8CGZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Ser822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Ser826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Ser837", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "864", "end_pos": "864", "site_lbl": "Ser864", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Ser866", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Ser913", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGZ0", "url": "https://www.uniprot.org/uniprotkb/Q8CGZ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CGZ0-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Tyr272", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGY->NGC).", "chr_id": "8", "chr_pos": "73222105", "evidence": [ { "id": "rs3388995158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995158" } ] } ] } ], "record_id": "Q8CGZ0-1" }, { "uniprot_canonical_ac": "Q6ZQ73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1235, "chemical_mass": 135633.0, "gene_names": "Cand2;2210404G23Rik;Cand2;Kiaa0667;Tip120b;Tp120b;mKIAA0667", "protein_name": "Cullin-associated NEDD8-dissociated protein 2", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "pmid": "" }, { "name": "SCF complex assembly", "id": "GO:0010265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010265", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "pmid": "" } ], "molecular_function": [ { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ73", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ZQ73-1" }, { "uniprot_canonical_ac": "Q8CIM3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 535, "chemical_mass": 58576.0, "gene_names": "D2hgdh;D2hgdh", "protein_name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0111351", "name": "D-2-hydroxyglutaric aciduria 1", "description": "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.", "url": "https://disease-ontology.org/term/DOID:0111351", "evidence": [ { "id": "0111351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111351" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "(R)-2-hydroxyglutarate dehydrogenase activity", "id": "GO:0051990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051990", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" } ], "biological_process": [ { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "response to cobalt ion", "id": "GO:0032025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032025", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "malate metabolic process", "id": "GO:0006108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006108", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "lactate metabolic process", "id": "GO:0006089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006089", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" }, { "name": "tartrate metabolic process", "id": "GO:1901275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901275", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM3", "url": "https://www.uniprot.org/uniprotkb/Q8CIM3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CIM3-1" }, { "uniprot_canonical_ac": "Q3UKU4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 495, "chemical_mass": 55012.0, "gene_names": "Fam83f;Fam83f;Sack1f", "protein_name": "Protein FAM83F", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UKU4-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Thr427", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 427, "start_aa": "Thr", "end_pos": 427, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr427", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UKU4-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UKU4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UKU4" } ] } ] }, { "uniprot_canonical_ac": "Q3UKU4-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UKU4", "url": "https://www.uniprot.org/uniprotkb/Q3UKU4" } ] } ] }, { "uniprot_canonical_ac": "Q3UKU4-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Asn480", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "15", "chr_pos": "80576789", "evidence": [ { "id": "rs3406676498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406676498" } ] } ] } ], "record_id": "Q3UKU4-1" }, { "uniprot_canonical_ac": "E9PV82-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 43084.0, "gene_names": "Fam53a;2410018C17Rik;5430419M09Rik;Dntnp;Fam53a", "protein_name": "Protein FAM53A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" } ], "pmid": "" } ], "biological_process": [ { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PV82-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Thr", "end_pos": 185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr185", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PV82-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" } ] } ] }, { "uniprot_canonical_ac": "E9PV82-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9PV82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PV82" } ] } ] }, { "uniprot_canonical_ac": "E9PV82-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PV82", "url": "https://www.uniprot.org/uniprotkb/E9PV82" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9PV82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PV82" } ] } ] } ], "record_id": "E9PV82-1" }, { "uniprot_canonical_ac": "Q91WM6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 156, "chemical_mass": 17810.0, "gene_names": "Eva1a;Eva1a;Fam176a;Tmem166", "protein_name": "Protein eva-1 homolog A", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" }, { "name": "connective tissue replacement", "id": "GO:0097709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097709", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WM6-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Thr110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q91WM6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91WM6" } ] } ] }, { "uniprot_canonical_ac": "Q91WM6-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WM6", "url": "https://www.uniprot.org/uniprotkb/Q91WM6" } ] } ] } ], "record_id": "Q91WM6-1" }, { "uniprot_canonical_ac": "P14404-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1232, "chemical_mass": 138100.0, "gene_names": "Mecom;D630039M04Rik;Evi-1;Evi1;Jbo;Mds1-Evi1;Mds1;Mds;Mecom;Prdm3;Znfpr1b1", "protein_name": "Histone-lysine N-methyltransferase MECOM", "disease": [ { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 } ], "biological_process": [ { "name": "maintenance of cell number", "id": "GO:0098727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098727", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "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": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "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": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "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": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "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": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "neutrophil homeostasis", "id": "GO:0001780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001780", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "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": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "histone H3K9 methyltransferase activity", "id": "GO:0046974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046974", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "histone H3K9 monomethyltransferase activity", "id": "GO:0140948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140948", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14404-2", "start_pos": "450", "end_pos": "450", "site_lbl": "Thr450", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 450, "start_aa": "Thr", "end_pos": 450, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr450", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "766", "end_pos": "766", "site_lbl": "Thr766", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 766, "start_aa": "Thr", "end_pos": 766, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr766", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "1039", "end_pos": "1039", "site_lbl": "Ser1039", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "1041", "end_pos": "1041", "site_lbl": "Ser1041", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P14404", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14404" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "626", "end_pos": "626", "site_lbl": "Ser626", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P14404", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14404" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" } ] } ] }, { "uniprot_canonical_ac": "P14404-2", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14404", "url": "https://www.uniprot.org/uniprotkb/P14404" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P14404", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14404" } ] } ] } ], "record_id": "P14404-2" }, { "uniprot_canonical_ac": "P34152-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1052, "chemical_mass": 119243.0, "gene_names": "Ptk2;FADK 1;FAK;FRNK;Fadk;Fak1;Fak;Kiaa4203;Ptk2;p125FAK", "protein_name": "Focal adhesion kinase 1", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "regulation of cell adhesion mediated by integrin", "id": "GO:0033628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033628", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900024", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046621", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "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": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "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": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "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": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration", "id": "GO:0010632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010632", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "central nervous system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033634", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "signal complex assembly", "id": "GO:0007172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007172", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "negative regulation of synapse assembly", "id": "GO:0051964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051964", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic actin cytoskeleton", "id": "GO:1905274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905274", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "positive regulation of macrophage proliferation", "id": "GO:0120041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120041", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P34152-3", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "397", "end_pos": "397", "site_lbl": "Tyr397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P34152-3", "kinase_gene_name": "Ptk2", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "10373530", "url": "https://glygen.org/publication/PubMed/10373530" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PRO", "id": "P34152", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "27994061", "url": "https://glygen.org/publication/PubMed/27994061" }, { "database": "PubMed", "id": "10373530", "url": "https://glygen.org/publication/PubMed/10373530" }, { "database": "PubMed", "id": "10430888", "url": "https://glygen.org/publication/PubMed/10430888" }, { "database": "PubMed", "id": "10891511", "url": "https://glygen.org/publication/PubMed/10891511" }, { "database": "PubMed", "id": "10931187", "url": "https://glygen.org/publication/PubMed/10931187" }, { "database": "PubMed", "id": "11279163", "url": "https://glygen.org/publication/PubMed/11279163" }, { "database": "PubMed", "id": "11314030", "url": "https://glygen.org/publication/PubMed/11314030" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "PubMed", "id": "11468287", "url": "https://glygen.org/publication/PubMed/11468287" }, { "database": "PubMed", "id": "11683393", "url": "https://glygen.org/publication/PubMed/11683393" }, { "database": "PubMed", "id": "11839767", "url": "https://glygen.org/publication/PubMed/11839767" }, { "database": "PubMed", "id": "11927607", "url": "https://glygen.org/publication/PubMed/11927607" }, { "database": "PubMed", "id": "12083796", "url": "https://glygen.org/publication/PubMed/12083796" }, { "database": "PubMed", "id": "12087088", "url": "https://glygen.org/publication/PubMed/12087088" }, { "database": "PubMed", "id": "12515828", "url": "https://glygen.org/publication/PubMed/12515828" }, { "database": "PubMed", "id": "14500722", "url": "https://glygen.org/publication/PubMed/14500722" }, { "database": "PubMed", "id": "15174091", "url": "https://glygen.org/publication/PubMed/15174091" }, { "database": "PubMed", "id": "15302877", "url": "https://glygen.org/publication/PubMed/15302877" }, { "database": "PubMed", "id": "15561106", "url": "https://glygen.org/publication/PubMed/15561106" }, { "database": "PubMed", "id": "15845548", "url": "https://glygen.org/publication/PubMed/15845548" }, { "database": "PubMed", "id": "15967814", "url": "https://glygen.org/publication/PubMed/15967814" }, { "database": "PubMed", "id": "16132110", "url": "https://glygen.org/publication/PubMed/16132110" }, { "database": "PubMed", "id": "16293639", "url": "https://glygen.org/publication/PubMed/16293639" }, { "database": "PubMed", "id": "16337627", "url": "https://glygen.org/publication/PubMed/16337627" }, { "database": "PubMed", "id": "16972260", "url": "https://glygen.org/publication/PubMed/16972260" }, { "database": "PubMed", "id": "17022972", "url": "https://glygen.org/publication/PubMed/17022972" }, { "database": "PubMed", "id": "17289681", "url": "https://glygen.org/publication/PubMed/17289681" }, { "database": "PubMed", "id": "17303567", "url": "https://glygen.org/publication/PubMed/17303567" }, { "database": "PubMed", "id": "17417603", "url": "https://glygen.org/publication/PubMed/17417603" }, { "database": "PubMed", "id": "19596799", "url": "https://glygen.org/publication/PubMed/19596799" }, { "database": "PubMed", "id": "19776009", "url": "https://glygen.org/publication/PubMed/19776009" }, { "database": "PubMed", "id": "19917775", "url": "https://glygen.org/publication/PubMed/19917775" }, { "database": "PubMed", "id": "20234191", "url": "https://glygen.org/publication/PubMed/20234191" }, { "database": "PubMed", "id": "20234193", "url": "https://glygen.org/publication/PubMed/20234193" }, { "database": "PubMed", "id": "20530207", "url": "https://glygen.org/publication/PubMed/20530207" }, { "database": "PubMed", "id": "20737513", "url": "https://glygen.org/publication/PubMed/20737513" }, { "database": "PubMed", "id": "20886051", "url": "https://glygen.org/publication/PubMed/20886051" }, { "database": "PubMed", "id": "21068464", "url": "https://glygen.org/publication/PubMed/21068464" }, { "database": "PubMed", "id": "21289086", "url": "https://glygen.org/publication/PubMed/21289086" }, { "database": "PubMed", "id": "21347357", "url": "https://glygen.org/publication/PubMed/21347357" }, { "database": "PubMed", "id": "21544092", "url": "https://glygen.org/publication/PubMed/21544092" }, { "database": "PubMed", "id": "21823119", "url": "https://glygen.org/publication/PubMed/21823119" }, { "database": "PubMed", "id": "21921419", "url": "https://glygen.org/publication/PubMed/21921419" }, { "database": "PubMed", "id": "22105351", "url": "https://glygen.org/publication/PubMed/22105351" }, { "database": "PubMed", "id": "22204307", "url": "https://glygen.org/publication/PubMed/22204307" }, { "database": "PubMed", "id": "22279574", "url": "https://glygen.org/publication/PubMed/22279574" }, { "database": "PubMed", "id": "22285464", "url": "https://glygen.org/publication/PubMed/22285464" }, { "database": "PubMed", "id": "22322421", "url": "https://glygen.org/publication/PubMed/22322421" }, { "database": "PubMed", "id": "22887049", "url": "https://glygen.org/publication/PubMed/22887049" }, { "database": "PubMed", "id": "22919583", "url": "https://glygen.org/publication/PubMed/22919583" }, { "database": "PubMed", "id": "23028449", "url": "https://glygen.org/publication/PubMed/23028449" }, { "database": "PubMed", "id": "23571270", "url": "https://glygen.org/publication/PubMed/23571270" }, { "database": "PubMed", "id": "23613946", "url": "https://glygen.org/publication/PubMed/23613946" }, { "database": "PubMed", "id": "23637231", "url": "https://glygen.org/publication/PubMed/23637231" }, { "database": "PubMed", "id": "23642017", "url": "https://glygen.org/publication/PubMed/23642017" }, { "database": "PubMed", "id": "23693126", "url": "https://glygen.org/publication/PubMed/23693126" }, { "database": "PubMed", "id": "23695213", "url": "https://glygen.org/publication/PubMed/23695213" }, { "database": "PubMed", "id": "23824717", "url": "https://glygen.org/publication/PubMed/23824717" }, { "database": "PubMed", "id": "24124594", "url": "https://glygen.org/publication/PubMed/24124594" }, { "database": "PubMed", "id": "24142503", "url": "https://glygen.org/publication/PubMed/24142503" }, { "database": "PubMed", "id": "24169345", "url": "https://glygen.org/publication/PubMed/24169345" }, { "database": "PubMed", "id": "24446483", "url": "https://glygen.org/publication/PubMed/24446483" }, { "database": "PubMed", "id": "24755674", "url": "https://glygen.org/publication/PubMed/24755674" }, { "database": "PubMed", "id": "24888687", "url": "https://glygen.org/publication/PubMed/24888687" }, { "database": "PubMed", "id": "24899686", "url": "https://glygen.org/publication/PubMed/24899686" }, { "database": "PubMed", "id": "25100946", "url": "https://glygen.org/publication/PubMed/25100946" }, { "database": "PubMed", "id": "25118939", "url": "https://glygen.org/publication/PubMed/25118939" }, { "database": "PubMed", "id": "25242698", "url": "https://glygen.org/publication/PubMed/25242698" }, { "database": "PubMed", "id": "25280866", "url": "https://glygen.org/publication/PubMed/25280866" }, { "database": "PubMed", "id": "25377086", "url": "https://glygen.org/publication/PubMed/25377086" }, { "database": "PubMed", "id": "25612833", "url": "https://glygen.org/publication/PubMed/25612833" }, { "database": "PubMed", "id": "25692763", "url": "https://glygen.org/publication/PubMed/25692763" }, { "database": "PubMed", "id": "26068982", "url": "https://glygen.org/publication/PubMed/26068982" }, { "database": "PubMed", "id": "26194913", "url": "https://glygen.org/publication/PubMed/26194913" }, { "database": "PubMed", "id": "26340932", "url": "https://glygen.org/publication/PubMed/26340932" }, { "database": "PubMed", "id": "26378057", "url": "https://glygen.org/publication/PubMed/26378057" }, { "database": "PubMed", "id": "26517238", "url": "https://glygen.org/publication/PubMed/26517238" }, { "database": "PubMed", "id": "27009091", "url": "https://glygen.org/publication/PubMed/27009091" }, { "database": "PubMed", "id": "27306643", "url": "https://glygen.org/publication/PubMed/27306643" }, { "database": "PubMed", "id": "27374103", "url": "https://glygen.org/publication/PubMed/27374103" }, { "database": "PubMed", "id": "27463003", "url": "https://glygen.org/publication/PubMed/27463003" }, { "database": "PubMed", "id": "27677358", "url": "https://glygen.org/publication/PubMed/27677358" }, { "database": "PubMed", "id": "27708220", "url": "https://glygen.org/publication/PubMed/27708220" }, { "database": "PubMed", "id": "27893716", "url": "https://glygen.org/publication/PubMed/27893716" }, { "database": "PubMed", "id": "27905395", "url": "https://glygen.org/publication/PubMed/27905395" }, { "database": "PubMed", "id": "28108732", "url": "https://glygen.org/publication/PubMed/28108732" }, { "database": "PubMed", "id": "28165007", "url": "https://glygen.org/publication/PubMed/28165007" }, { "database": "PubMed", "id": "28383553", "url": "https://glygen.org/publication/PubMed/28383553" }, { "database": "PubMed", "id": "28416479", "url": "https://glygen.org/publication/PubMed/28416479" }, { "database": "PubMed", "id": "28424421", "url": "https://glygen.org/publication/PubMed/28424421" }, { "database": "PubMed", "id": "28444899", "url": "https://glygen.org/publication/PubMed/28444899" }, { "database": "PubMed", "id": "28600496", "url": "https://glygen.org/publication/PubMed/28600496" }, { "database": "PubMed", "id": "28639351", "url": "https://glygen.org/publication/PubMed/28639351" }, { "database": "PubMed", "id": "28701345", "url": "https://glygen.org/publication/PubMed/28701345" }, { "database": "PubMed", "id": "28782937", "url": "https://glygen.org/publication/PubMed/28782937" }, { "database": "PubMed", "id": "28915654", "url": "https://glygen.org/publication/PubMed/28915654" }, { "database": "PubMed", "id": "29238610", "url": "https://glygen.org/publication/PubMed/29238610" }, { "database": "PubMed", "id": "29303405", "url": "https://glygen.org/publication/PubMed/29303405" }, { "database": "PubMed", "id": "29351412", "url": "https://glygen.org/publication/PubMed/29351412" }, { "database": "PubMed", "id": "29416084", "url": "https://glygen.org/publication/PubMed/29416084" }, { "database": "PubMed", "id": "29420611", "url": "https://glygen.org/publication/PubMed/29420611" }, { "database": "PubMed", "id": "29472531", "url": "https://glygen.org/publication/PubMed/29472531" }, { "database": "PubMed", "id": "29528115", "url": "https://glygen.org/publication/PubMed/29528115" }, { "database": "PubMed", "id": "30001432", "url": "https://glygen.org/publication/PubMed/30001432" }, { "database": "PubMed", "id": "30065303", "url": "https://glygen.org/publication/PubMed/30065303" }, { "database": "PubMed", "id": "30250269", "url": "https://glygen.org/publication/PubMed/30250269" }, { "database": "PubMed", "id": "30717276", "url": "https://glygen.org/publication/PubMed/30717276" }, { "database": "PubMed", "id": "31215459", "url": "https://glygen.org/publication/PubMed/31215459" }, { "database": "PubMed", "id": "31604999", "url": "https://glygen.org/publication/PubMed/31604999" }, { "database": "PubMed", "id": "31831012", "url": "https://glygen.org/publication/PubMed/31831012" }, { "database": "PubMed", "id": "31882770", "url": "https://glygen.org/publication/PubMed/31882770" }, { "database": "PubMed", "id": "31942012", "url": "https://glygen.org/publication/PubMed/31942012" }, { "database": "PubMed", "id": "32025610", "url": "https://glygen.org/publication/PubMed/32025610" }, { "database": "PubMed", "id": "32144580", "url": "https://glygen.org/publication/PubMed/32144580" }, { "database": "PubMed", "id": "32396631", "url": "https://glygen.org/publication/PubMed/32396631" }, { "database": "PubMed", "id": "32493400", "url": "https://glygen.org/publication/PubMed/32493400" }, { "database": "PubMed", "id": "32612176", "url": "https://glygen.org/publication/PubMed/32612176" }, { "database": "PubMed", "id": "32642407", "url": "https://glygen.org/publication/PubMed/32642407" }, { "database": "PubMed", "id": "32899862", "url": "https://glygen.org/publication/PubMed/32899862" }, { "database": "PubMed", "id": "33250856", "url": "https://glygen.org/publication/PubMed/33250856" }, { "database": "PubMed", "id": "33643917", "url": "https://glygen.org/publication/PubMed/33643917" }, { "database": "PubMed", "id": "33917849", "url": "https://glygen.org/publication/PubMed/33917849" }, { "database": "PubMed", "id": "34240802", "url": "https://glygen.org/publication/PubMed/34240802" }, { "database": "PubMed", "id": "35455022", "url": "https://glygen.org/publication/PubMed/35455022" }, { "database": "PubMed", "id": "36438565", "url": "https://glygen.org/publication/PubMed/36438565" }, { "database": "PubMed", "id": "7479864", "url": "https://glygen.org/publication/PubMed/7479864" }, { "database": "PubMed", "id": "9032297", "url": "https://glygen.org/publication/PubMed/9032297" }, { "database": "PubMed", "id": "10806474", "url": "https://glygen.org/publication/PubMed/10806474" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "7529876", "url": "https://glygen.org/publication/PubMed/7529876" }, { "database": "PubMed", "id": "8824286", "url": "https://glygen.org/publication/PubMed/8824286" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced enzyme activity; when associated with 576-F-F-577. Abolishes activation of MAPK1/ERK2 in response to integrin signaling. Abolishes activation of SRC. Abolishes interaction with PIK3R1.", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "8824286", "url": "https://glygen.org/publication/PubMed/8824286" }, { "database": "PubMed", "id": "7529876", "url": "https://glygen.org/publication/PubMed/7529876" }, { "database": "PubMed", "id": "10373530", "url": "https://glygen.org/publication/PubMed/10373530" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "407", "end_pos": "407", "site_lbl": "Tyr407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "PubMed", "id": "7529876", "url": "https://glygen.org/publication/PubMed/7529876" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "17303567", "url": "https://glygen.org/publication/PubMed/17303567" }, { "database": "PubMed", "id": "17976369", "url": "https://glygen.org/publication/PubMed/17976369" }, { "database": "PubMed", "id": "9790958", "url": "https://glygen.org/publication/PubMed/9790958" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "570", "end_pos": "570", "site_lbl": "Tyr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "576", "end_pos": "576", "site_lbl": "Tyr576", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "10373530", "url": "https://glygen.org/publication/PubMed/10373530" }, { "database": "PubMed", "id": "15561106", "url": "https://glygen.org/publication/PubMed/15561106" }, { "database": "PubMed", "id": "16293639", "url": "https://glygen.org/publication/PubMed/16293639" }, { "database": "PubMed", "id": "17289681", "url": "https://glygen.org/publication/PubMed/17289681" }, { "database": "PubMed", "id": "19098120", "url": "https://glygen.org/publication/PubMed/19098120" }, { "database": "PubMed", "id": "19917775", "url": "https://glygen.org/publication/PubMed/19917775" }, { "database": "PubMed", "id": "21289086", "url": "https://glygen.org/publication/PubMed/21289086" }, { "database": "PubMed", "id": "23027128", "url": "https://glygen.org/publication/PubMed/23027128" }, { "database": "PubMed", "id": "23613946", "url": "https://glygen.org/publication/PubMed/23613946" }, { "database": "PubMed", "id": "23716717", "url": "https://glygen.org/publication/PubMed/23716717" }, { "database": "PubMed", "id": "24108461", "url": "https://glygen.org/publication/PubMed/24108461" }, { "database": "PubMed", "id": "25377086", "url": "https://glygen.org/publication/PubMed/25377086" }, { "database": "PubMed", "id": "25938342", "url": "https://glygen.org/publication/PubMed/25938342" }, { "database": "PubMed", "id": "26247733", "url": "https://glygen.org/publication/PubMed/26247733" }, { "database": "PubMed", "id": "26455318", "url": "https://glygen.org/publication/PubMed/26455318" }, { "database": "PubMed", "id": "26908052", "url": "https://glygen.org/publication/PubMed/26908052" }, { "database": "PubMed", "id": "27708220", "url": "https://glygen.org/publication/PubMed/27708220" }, { "database": "PubMed", "id": "27905395", "url": "https://glygen.org/publication/PubMed/27905395" }, { "database": "PubMed", "id": "28331230", "url": "https://glygen.org/publication/PubMed/28331230" }, { "database": "PubMed", "id": "28915654", "url": "https://glygen.org/publication/PubMed/28915654" }, { "database": "PubMed", "id": "33250856", "url": "https://glygen.org/publication/PubMed/33250856" }, { "database": "PubMed", "id": "9790958", "url": "https://glygen.org/publication/PubMed/9790958" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "7529876", "url": "https://glygen.org/publication/PubMed/7529876" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "577", "end_pos": "577", "site_lbl": "Tyr577", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "10373530", "url": "https://glygen.org/publication/PubMed/10373530" }, { "database": "PubMed", "id": "10497197", "url": "https://glygen.org/publication/PubMed/10497197" }, { "database": "PubMed", "id": "11279163", "url": "https://glygen.org/publication/PubMed/11279163" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "PubMed", "id": "11468287", "url": "https://glygen.org/publication/PubMed/11468287" }, { "database": "PubMed", "id": "16293639", "url": "https://glygen.org/publication/PubMed/16293639" }, { "database": "PubMed", "id": "19098120", "url": "https://glygen.org/publication/PubMed/19098120" }, { "database": "PubMed", "id": "23027128", "url": "https://glygen.org/publication/PubMed/23027128" }, { "database": "PubMed", "id": "23716717", "url": "https://glygen.org/publication/PubMed/23716717" }, { "database": "PubMed", "id": "24108461", "url": "https://glygen.org/publication/PubMed/24108461" }, { "database": "PubMed", "id": "25377086", "url": "https://glygen.org/publication/PubMed/25377086" }, { "database": "PubMed", "id": "25938342", "url": "https://glygen.org/publication/PubMed/25938342" }, { "database": "PubMed", "id": "26247733", "url": "https://glygen.org/publication/PubMed/26247733" }, { "database": "PubMed", "id": "26455318", "url": "https://glygen.org/publication/PubMed/26455318" }, { "database": "PubMed", "id": "27708220", "url": "https://glygen.org/publication/PubMed/27708220" }, { "database": "PubMed", "id": "27905395", "url": "https://glygen.org/publication/PubMed/27905395" }, { "database": "PubMed", "id": "28444899", "url": "https://glygen.org/publication/PubMed/28444899" }, { "database": "PubMed", "id": "28915654", "url": "https://glygen.org/publication/PubMed/28915654" }, { "database": "PubMed", "id": "33250856", "url": "https://glygen.org/publication/PubMed/33250856" }, { "database": "PubMed", "id": "9790958", "url": "https://glygen.org/publication/PubMed/9790958" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "7529876", "url": "https://glygen.org/publication/PubMed/7529876" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "5", "end_pos": "5", "site_lbl": "Tyr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "722", "end_pos": "722", "site_lbl": "Ser722", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "28331230", "url": "https://glygen.org/publication/PubMed/28331230" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "12941275", "url": "https://glygen.org/publication/PubMed/12941275" }, { "database": "PubMed", "id": "25609658", "url": "https://glygen.org/publication/PubMed/25609658" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "843", "end_pos": "843", "site_lbl": "Ser843", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "15845548", "url": "https://glygen.org/publication/PubMed/15845548" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "861", "end_pos": "861", "site_lbl": "Tyr861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "11821402", "url": "https://glygen.org/publication/PubMed/11821402" }, { "database": "PubMed", "id": "11927607", "url": "https://glygen.org/publication/PubMed/11927607" }, { "database": "PubMed", "id": "12748308", "url": "https://glygen.org/publication/PubMed/12748308" }, { "database": "PubMed", "id": "15123632", "url": "https://glygen.org/publication/PubMed/15123632" }, { "database": "PubMed", "id": "16293639", "url": "https://glygen.org/publication/PubMed/16293639" }, { "database": "PubMed", "id": "17289681", "url": "https://glygen.org/publication/PubMed/17289681" }, { "database": "PubMed", "id": "19000654", "url": "https://glygen.org/publication/PubMed/19000654" }, { "database": "PubMed", "id": "21289086", "url": "https://glygen.org/publication/PubMed/21289086" }, { "database": "PubMed", "id": "23027128", "url": "https://glygen.org/publication/PubMed/23027128" }, { "database": "PubMed", "id": "23637231", "url": "https://glygen.org/publication/PubMed/23637231" }, { "database": "PubMed", "id": "23799510", "url": "https://glygen.org/publication/PubMed/23799510" }, { "database": "PubMed", "id": "24169345", "url": "https://glygen.org/publication/PubMed/24169345" }, { "database": "PubMed", "id": "25242698", "url": "https://glygen.org/publication/PubMed/25242698" }, { "database": "PubMed", "id": "25377086", "url": "https://glygen.org/publication/PubMed/25377086" }, { "database": "PubMed", "id": "28416479", "url": "https://glygen.org/publication/PubMed/28416479" }, { "database": "PubMed", "id": "28444899", "url": "https://glygen.org/publication/PubMed/28444899" }, { "database": "PubMed", "id": "33730293", "url": "https://glygen.org/publication/PubMed/33730293" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "910", "end_pos": "910", "site_lbl": "Ser910", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "12692126", "url": "https://glygen.org/publication/PubMed/12692126" }, { "database": "PubMed", "id": "15174091", "url": "https://glygen.org/publication/PubMed/15174091" }, { "database": "PubMed", "id": "15845548", "url": "https://glygen.org/publication/PubMed/15845548" }, { "database": "PubMed", "id": "28782937", "url": "https://glygen.org/publication/PubMed/28782937" }, { "database": "PubMed", "id": "32144580", "url": "https://glygen.org/publication/PubMed/32144580" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "914", "end_pos": "914", "site_lbl": "Thr914", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "925", "end_pos": "925", "site_lbl": "Tyr925", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "IntAct", "id": "P34152", "url": "https://www.ebi.ac.uk/intact/interactors/id:P34152*" }, { "database": "iPTMnet", "id": "P34152", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P34152" }, { "database": "PubMed", "id": "7997267", "url": "https://glygen.org/publication/PubMed/7997267" }, { "database": "PubMed", "id": "9148935", "url": "https://glygen.org/publication/PubMed/9148935" }, { "database": "PubMed", "id": "8816475", "url": "https://glygen.org/publication/PubMed/8816475" }, { "database": "PubMed", "id": "11420674", "url": "https://glygen.org/publication/PubMed/11420674" }, { "database": "PubMed", "id": "11468287", "url": "https://glygen.org/publication/PubMed/11468287" }, { "database": "PubMed", "id": "16293639", "url": "https://glygen.org/publication/PubMed/16293639" }, { "database": "PubMed", "id": "16682956", "url": "https://glygen.org/publication/PubMed/16682956" }, { "database": "PubMed", "id": "16828471", "url": "https://glygen.org/publication/PubMed/16828471" }, { "database": "PubMed", "id": "18356303", "url": "https://glygen.org/publication/PubMed/18356303" }, { "database": "PubMed", "id": "21289086", "url": "https://glygen.org/publication/PubMed/21289086" }, { "database": "PubMed", "id": "21535874", "url": "https://glygen.org/publication/PubMed/21535874" }, { "database": "PubMed", "id": "22128142", "url": "https://glygen.org/publication/PubMed/22128142" }, { "database": "PubMed", "id": "22614008", "url": "https://glygen.org/publication/PubMed/22614008" }, { "database": "PubMed", "id": "22919583", "url": "https://glygen.org/publication/PubMed/22919583" }, { "database": "PubMed", "id": "22974528", "url": "https://glygen.org/publication/PubMed/22974528" }, { "database": "PubMed", "id": "23027128", "url": "https://glygen.org/publication/PubMed/23027128" }, { "database": "PubMed", "id": "23028449", "url": "https://glygen.org/publication/PubMed/23028449" }, { "database": "PubMed", "id": "24108461", "url": "https://glygen.org/publication/PubMed/24108461" }, { "database": "PubMed", "id": "24169345", "url": "https://glygen.org/publication/PubMed/24169345" }, { "database": "PubMed", "id": "24416452", "url": "https://glygen.org/publication/PubMed/24416452" }, { "database": "PubMed", "id": "25063025", "url": "https://glygen.org/publication/PubMed/25063025" }, { "database": "PubMed", "id": "25319025", "url": "https://glygen.org/publication/PubMed/25319025" }, { "database": "PubMed", "id": "25938342", "url": "https://glygen.org/publication/PubMed/25938342" }, { "database": "PubMed", "id": "26378057", "url": "https://glygen.org/publication/PubMed/26378057" }, { "database": "PubMed", "id": "27176481", "url": "https://glygen.org/publication/PubMed/27176481" }, { "database": "PubMed", "id": "27708220", "url": "https://glygen.org/publication/PubMed/27708220" }, { "database": "PubMed", "id": "28255537", "url": "https://glygen.org/publication/PubMed/28255537" }, { "database": "PubMed", "id": "28416479", "url": "https://glygen.org/publication/PubMed/28416479" }, { "database": "PubMed", "id": "28424421", "url": "https://glygen.org/publication/PubMed/28424421" }, { "database": "PubMed", "id": "28444899", "url": "https://glygen.org/publication/PubMed/28444899" }, { "database": "PubMed", "id": "28915654", "url": "https://glygen.org/publication/PubMed/28915654" }, { "database": "PubMed", "id": "29209901", "url": "https://glygen.org/publication/PubMed/29209901" }, { "database": "PubMed", "id": "29420611", "url": "https://glygen.org/publication/PubMed/29420611" }, { "database": "PubMed", "id": "32655375", "url": "https://glygen.org/publication/PubMed/32655375" }, { "database": "PubMed", "id": "35325397", "url": "https://glygen.org/publication/PubMed/35325397" }, { "database": "PubMed", "id": "9032297", "url": "https://glygen.org/publication/PubMed/9032297" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with GRB2.", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "7997267", "url": "https://glygen.org/publication/PubMed/7997267" }, { "database": "PubMed", "id": "8816475", "url": "https://glygen.org/publication/PubMed/8816475" } ] } ] }, { "uniprot_canonical_ac": "P34152-3", "start_pos": "1034", "end_pos": "1034", "site_lbl": "Leu1034", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Loss of interaction with ARHGEF28.", "evidence": [ { "database": "UniProtKB", "id": "P34152", "url": "https://www.uniprot.org/uniprotkb/P34152" }, { "database": "PubMed", "id": "12702722", "url": "https://glygen.org/publication/PubMed/12702722" } ] } ] } ], "record_id": "P34152-3" }, { "uniprot_canonical_ac": "P97481-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 874, "chemical_mass": 96712.0, "gene_names": "Epas1;Epas1;HIF-2alpha;HIF2A;HLF;HRF;Hif2a;MOP2;bHLHe73", "protein_name": "Endothelial PAS domain-containing protein 1", "disease": [ { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0080339", "name": "familial erythrocytosis 4", "description": "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.", "url": "https://disease-ontology.org/term/DOID:0080339", "evidence": [ { "id": "0080339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080339" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:14175", "name": "von Hippel-Lindau disease", "description": "", "url": "https://disease-ontology.org/term/DOID:14175", "evidence": [ { "id": "14175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14175" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "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: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "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: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 } ], "biological_process": [ { "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": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "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": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "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": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "myoblast fate commitment", "id": "GO:0048625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048625", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "epithelial cell maturation", "id": "GO:0002070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002070", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "norepinephrine biosynthetic process", "id": "GO:0042421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042421", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "multicellular organismal-level iron ion homeostasis", "id": "GO:0060586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060586", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "positive regulation of dopamine biosynthetic process", "id": "GO:1903181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903181", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "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": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "regulation of protein neddylation", "id": "GO:2000434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000434", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "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": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cobalt ion binding", "id": "GO:0050897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050897", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97481-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Thr406", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Thr", "end_pos": 406, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr406", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Thr480", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 480, "start_aa": "Thr", "end_pos": 480, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr480", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "17", "chr_pos": "87133197", "evidence": [ { "id": "rs3408157704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408157704" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 558, "start_aa": "Thr", "end_pos": 558, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr558", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "844", "end_pos": "844", "site_lbl": "Thr844", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "11983697", "url": "https://glygen.org/publication/PubMed/11983697" }, { "database": "iPTMnet", "id": "P97481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97481" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreases interaction with CREBBP.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "11983697", "url": "https://glygen.org/publication/PubMed/11983697" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Phe169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Decreases heterodimer formation with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Arg171", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly decreases heterodimer formation with ARNT. Impairs heterodimer formation with ARNT; when associated with D-192.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Asn184", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Decreases HREDNA binding; when associated with D-186.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Lys186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Decreases HREDNA binding; when associated with D-184.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Val192", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Markedly decreases heterodimer formation with ARNT. Impairs heterodimer formation with ARNT; when associated with A-171.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "194", "end_pos": "194", "site_lbl": "His194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases heterodimer formation with ARNT.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ala23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Decreases HREDNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Arg27", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases HREDNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Pro530", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Confers transcriptional activity at normoxia; when associated with A-851.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" } ] } ] }, { "uniprot_canonical_ac": "P97481-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Asn851", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Confers transcriptional activity at normoxia; when associated with A-530.", "evidence": [ { "database": "UniProtKB", "id": "P97481", "url": "https://www.uniprot.org/uniprotkb/P97481" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" } ] } ] } ], "record_id": "P97481-1" }, { "uniprot_canonical_ac": "Q7TNV1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 275, "chemical_mass": 30778.0, "gene_names": "Tlcd3b;1500016O10Rik;A330104J06Rik;Fam57b;Tlcd3b", "protein_name": "Ceramide synthase", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 }, { "disease_id": "DOID:0081448", "name": "cone-rod dystrophy 22", "description": "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.", "url": "https://disease-ontology.org/term/DOID:0081448", "evidence": [ { "id": "0081448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081448" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" } ], "biological_process": [ { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" } ], "molecular_function": [ { "name": "sphingosine N-acyltransferase activity", "id": "GO:0050291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050291", "evidence": [ { "database": "UniProtKB", "id": "Q7TNV1", "url": "https://www.uniprot.org/uniprotkb/Q7TNV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TNV1-1" }, { "uniprot_canonical_ac": "Q8BGR5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 422, "chemical_mass": 45939.0, "gene_names": "Fam53b;A930008G19Rik;Fam53b;mKIAA0140", "protein_name": "Protein FAM53B", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "pmid": "" } ], "biological_process": [ { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 250, "start_aa": "Thr", "end_pos": 250, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr250", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGR5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGR5-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR5", "url": "https://www.uniprot.org/uniprotkb/Q8BGR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGR5" } ] } ] } ], "record_id": "Q8BGR5-1" }, { "uniprot_canonical_ac": "Q8C3F2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C3F2", "url": "https://www.uniprot.org/uniprotkb/Q8C3F2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1091, "chemical_mass": 119718.0, "gene_names": "Fam120c;D930001I21Rik;Fam120c;ORF34", "protein_name": "Constitutive coactivator of PPAR-gamma-like protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C3F2", "url": "https://www.uniprot.org/uniprotkb/Q8C3F2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C3F2-1" }, { "uniprot_canonical_ac": "Q8R0W0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 6548, "chemical_mass": 724646.0, "gene_names": "Eppk1;EPPK", "protein_name": "Epiplakin", "disease": [], "molecular_function": [ { "name": "keratin filament binding", "id": "GO:1990254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990254", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "intermediate filament binding", "id": "GO:0019215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019215", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" } ], "biological_process": [ { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045110", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte migration", "id": "GO:0051548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051548", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "regulation of epithelium regeneration", "id": "GO:1905041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905041", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in wound healing", "id": "GO:0060054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060054", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "perinucleolar compartment", "id": "GO:0097356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097356", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Thr171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 171, "start_aa": "Thr", "end_pos": 171, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr171", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Thr204", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 204, "start_aa": "Thr", "end_pos": 204, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr204", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2449", "end_pos": "2449", "site_lbl": "Thr2449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2449, "start_aa": "Thr", "end_pos": 2449, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2449", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2729", "end_pos": "2729", "site_lbl": "Thr2729", "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": 2729, "start_aa": "Thr", "end_pos": 2729, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2729", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q8R0W0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2734", "end_pos": "2734", "site_lbl": "Thr2734", "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": 2734, "start_aa": "Thr", "end_pos": 2734, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2734", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q8R0W0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2964", "end_pos": "2964", "site_lbl": "Thr2964", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2964, "start_aa": "Thr", "end_pos": 2964, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2964", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3479", "end_pos": "3479", "site_lbl": "Thr3479", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3479, "start_aa": "Thr", "end_pos": 3479, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3479", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3994", "end_pos": "3994", "site_lbl": "Thr3994", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3994, "start_aa": "Thr", "end_pos": 3994, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3994", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "4509", "end_pos": "4509", "site_lbl": "Thr4509", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4509, "start_aa": "Thr", "end_pos": 4509, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr4509", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "5024", "end_pos": "5024", "site_lbl": "Thr5024", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 5024, "start_aa": "Thr", "end_pos": 5024, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr5024", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "5539", "end_pos": "5539", "site_lbl": "Thr5539", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 5539, "start_aa": "Thr", "end_pos": 5539, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr5539", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Thr576", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 576, "start_aa": "Thr", "end_pos": 576, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr576", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "6054", "end_pos": "6054", "site_lbl": "Thr6054", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 6054, "start_aa": "Thr", "end_pos": 6054, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr6054", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "1551", "end_pos": "1551", "site_lbl": "Thr1551", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Ser2430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "2508", "end_pos": "2508", "site_lbl": "Ser2508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3220", "end_pos": "3220", "site_lbl": "Ser3220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Thr33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3460", "end_pos": "3460", "site_lbl": "Ser3460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3538", "end_pos": "3538", "site_lbl": "Ser3538", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3735", "end_pos": "3735", "site_lbl": "Ser3735", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "3975", "end_pos": "3975", "site_lbl": "Ser3975", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "4053", "end_pos": "4053", "site_lbl": "Ser4053", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "4765", "end_pos": "4765", "site_lbl": "Ser4765", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "5005", "end_pos": "5005", "site_lbl": "Ser5005", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "5083", "end_pos": "5083", "site_lbl": "Ser5083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "5795", "end_pos": "5795", "site_lbl": "Ser5795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "6035", "end_pos": "6035", "site_lbl": "Ser6035", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "6113", "end_pos": "6113", "site_lbl": "Ser6113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "6310", "end_pos": "6310", "site_lbl": "Ser6310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W0", "url": "https://www.uniprot.org/uniprotkb/Q8R0W0" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "1549", "end_pos": "1549", "site_lbl": "Lys1549", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "15", "chr_pos": "75992233", "evidence": [ { "id": "rs3389368806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368806" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W0-1", "start_pos": "1875", "end_pos": "1875", "site_lbl": "Lys1875", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "15", "chr_pos": "75991255", "evidence": [ { "id": "rs3389362116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362116" } ] } ] } ], "record_id": "Q8R0W0-1" }, { "uniprot_canonical_ac": "Q91W69-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 636, "chemical_mass": 68240.0, "gene_names": "Epn3;2310022G12Rik;Epn3", "protein_name": "Epsin-3", "disease": [], "cellular_component": [ { "name": "clathrin vesicle coat", "id": "GO:0030125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030125", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" }, { "name": "EH domain binding", "id": "GO:1990175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990175", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91W69-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W69", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W69" } ] } ] }, { "uniprot_canonical_ac": "Q91W69-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W69", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W69" } ] } ] }, { "uniprot_canonical_ac": "Q91W69-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W69", "url": "https://www.uniprot.org/uniprotkb/Q91W69" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91W69", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91W69" } ] } ] } ], "record_id": "Q91W69-1" }, { "uniprot_canonical_ac": "Q99LC5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 333, "chemical_mass": 35009.0, "gene_names": "Etfa;2010200I21Rik;D9Ertd394e;Etfa", "protein_name": "Electron transfer flavoprotein subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial electron transfer flavoprotein complex", "id": "GO:0017133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017133", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "electron transfer flavoprotein complex", "id": "GO:0045251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045251", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" }, { "name": "amino acid catabolic process", "id": "GO:0009063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009063", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LC5-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" } ] } ] }, { "uniprot_canonical_ac": "Q99LC5-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LC5", "url": "https://www.uniprot.org/uniprotkb/Q99LC5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99LC5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LC5" } ] } ] } ], "record_id": "Q99LC5-1" }, { "uniprot_canonical_ac": "O70589-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 926, "chemical_mass": 105109.0, "gene_names": "Cask;Cask;DXPri1;DXRib1;LIN-2;Lin-2;Pals3;mLin-2", "protein_name": "Peripheral plasma membrane protein CASK", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 }, { "disease_id": "DOID:0060807", "name": "syndromic X-linked intellectual disability Najm type", "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060807", "evidence": [ { "id": "0060807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060807" } ], "weight": 0.0 }, { "disease_id": "DOID:14711", "name": "FG syndrome", "description": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:14711", "evidence": [ { "id": "14711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14711" } ], "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": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "podocyte foot", "id": "GO:0098846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098846", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "neurexin family protein binding", "id": "GO:0042043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042043", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" } ], "biological_process": [ { "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": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "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": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "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": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "negative regulation of cellular response to growth factor stimulus", "id": "GO:0090288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090288", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" }, { "name": "positive regulation of transport", "id": "GO:0051050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051050", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70589-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Thr863", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 863, "start_aa": "Thr", "end_pos": 863, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr863", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70589", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70589" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O70589", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70589" }, { "database": "PubMed", "id": "33318489", "url": "https://glygen.org/publication/PubMed/33318489" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" }, { "database": "iPTMnet", "id": "O70589", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70589" }, { "database": "PubMed", "id": "33318489", "url": "https://glygen.org/publication/PubMed/33318489" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Ser570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" }, { "database": "iPTMnet", "id": "O70589", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70589" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "O70589-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Tyr571", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70589", "url": "https://www.uniprot.org/uniprotkb/O70589" }, { "database": "iPTMnet", "id": "O70589", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70589" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] } ], "record_id": "O70589-1" }, { "uniprot_canonical_ac": "Q8K368-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1330, "chemical_mass": 149326.0, "gene_names": "Fanci;Fanci", "protein_name": "Fanconi anemia group I protein homolog", "disease": [ { "disease_id": "DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females.", "url": "https://disease-ontology.org/term/DOID:0050671", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0111091", "name": "Fanconi anemia complementation group I", "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0111091", "evidence": [ { "id": "0111091", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111091" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Fanconi anaemia nuclear complex", "id": "GO:0043240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043240", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" }, { "name": "DNA repair complex", "id": "GO:1990391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990391", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA polymerase binding", "id": "GO:0070182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070182", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "1281", "end_pos": "1281", "site_lbl": "Ser1281", "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": 1281, "start_aa": "Ser", "end_pos": 1281, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1281", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K368", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "1283", "end_pos": "1283", "site_lbl": "Ser1283", "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": 1283, "start_aa": "Ser", "end_pos": 1283, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1283", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K368", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "1122", "end_pos": "1122", "site_lbl": "Ser1122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Ser555", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" }, { "database": "PubMed", "id": "17412408", "url": "https://glygen.org/publication/PubMed/17412408" }, { "database": "iPTMnet", "id": "Q8K368", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" }, { "database": "PubMed", "id": "17412408", "url": "https://glygen.org/publication/PubMed/17412408" }, { "database": "iPTMnet", "id": "Q8K368", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Thr948", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K368", "url": "https://www.uniprot.org/uniprotkb/Q8K368" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "1236", "end_pos": "1236", "site_lbl": "Ser1236", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "7", "chr_pos": "79098050", "evidence": [ { "id": "rs36406064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36406064" } ] } ] }, { "uniprot_canonical_ac": "Q8K368-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Asp875", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "7", "chr_pos": "79085114", "evidence": [ { "id": "rs3388913486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388913486" } ] } ] } ], "record_id": "Q8K368-1" }, { "uniprot_canonical_ac": "Q9Z265-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 546, "chemical_mass": 61088.0, "gene_names": "Chek2;CHK2;Cds1;Chek2;Chk2;HUCDS1;Rad53", "protein_name": "Serine/threonine-protein kinase Chk2", "disease": [ { "disease_id": "DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females.", "url": "https://disease-ontology.org/term/DOID:0050671", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ], "weight": 0.0 }, { "disease_id": "DOID:0111504", "name": "Li-Fraumeni syndrome 2", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.", "url": "https://disease-ontology.org/term/DOID:0111504", "evidence": [ { "id": "0111504", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111504" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1614", "name": "male breast cancer", "description": "A breast cancer that occurs in males.", "url": "https://disease-ontology.org/term/DOID:1614", "evidence": [ { "id": "1614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1614" } ], "weight": 0.0 }, { "disease_id": "DOID:3308", "name": "embryonal carcinoma", "description": "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.", "url": "https://disease-ontology.org/term/DOID:3308", "evidence": [ { "id": "3308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3308" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "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: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: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 } ], "biological_process": [ { "name": "mitotic DNA damage checkpoint signaling", "id": "GO:0044773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044773", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "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": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "positive regulation of anoikis", "id": "GO:2000210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000210", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "mitotic intra-S DNA damage checkpoint signaling", "id": "GO:0031573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031573", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "negative regulation of DNA damage checkpoint", "id": "GO:2000002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000002", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "110989179", "evidence": [ { "id": "rs3388772618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772618" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" }, { "database": "PRO", "id": "Q9Z265", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9Z265" }, { "database": "iPTMnet", "id": "Q9Z265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z265" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Thr391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9Z265", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9Z265" }, { "database": "iPTMnet", "id": "Q9Z265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z265" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" }, { "database": "iPTMnet", "id": "Q9Z265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z265" }, { "database": "PubMed", "id": "17431115", "url": "https://glygen.org/publication/PubMed/17431115" }, { "database": "PubMed", "id": "23667485", "url": "https://glygen.org/publication/PubMed/23667485" }, { "database": "PubMed", "id": "23839489", "url": "https://glygen.org/publication/PubMed/23839489" }, { "database": "PubMed", "id": "24069304", "url": "https://glygen.org/publication/PubMed/24069304" }, { "database": "PubMed", "id": "27982046", "url": "https://glygen.org/publication/PubMed/27982046" }, { "database": "PubMed", "id": "29725001", "url": "https://glygen.org/publication/PubMed/29725001" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" } ] } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Tyr394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Does not inhibit cell survival upon DNA damage. Not phosphorylates p53/TP53.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z265", "url": "https://www.uniprot.org/uniprotkb/Q9Z265" }, { "database": "PubMed", "id": "25619829", "url": "https://glygen.org/publication/PubMed/25619829" } ] } ] } ], "record_id": "Q9Z265-1" }, { "uniprot_canonical_ac": "Q99LD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 471, "chemical_mass": 53442.0, "gene_names": "Gps1;Cops1;Csn1", "protein_name": "COP9 signalosome complex subunit 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein deneddylation", "id": "GO:0000338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000338", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LD4-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" } ] } ] }, { "uniprot_canonical_ac": "Q99LD4-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" }, { "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": "Q99LD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LD4" } ] } ] }, { "uniprot_canonical_ac": "Q99LD4-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Thr459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q99LD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LD4" } ] } ] }, { "uniprot_canonical_ac": "Q99LD4-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LD4", "url": "https://www.uniprot.org/uniprotkb/Q99LD4" }, { "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": "Q99LD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LD4" } ] } ] } ], "record_id": "Q99LD4-1" }, { "uniprot_canonical_ac": "Q62219-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 461, "chemical_mass": 50101.0, "gene_names": "Tgfb1i1;ARA55;Ara55;Hic5;TSC-5;Tgfb1i1;hic-5", "protein_name": "Transforming growth factor beta-1-induced transcript 1 protein", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "Roundabout binding", "id": "GO:0048495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048495", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" } ], "biological_process": [ { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "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": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62219-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ser164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Thr33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Tyr38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced phosphorylation. Loss of phosphorylation; when associated with F-60.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Thr407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Tyr60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced phosphorylation. Loss of phosphorylation; when associated with F-38.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62219", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62219" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Leu161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Increase in nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "12631731", "url": "https://glygen.org/publication/PubMed/12631731" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "366", "end_pos": "366", "site_lbl": "His366", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "G", "comment": "Loss of interaction with PTPN12; when associated with G-369.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "10092676", "url": "https://glygen.org/publication/PubMed/10092676" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Cys369", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of localization to focal adhesion; when associated with A-372.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "10092676", "url": "https://glygen.org/publication/PubMed/10092676" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "Loss of interaction with PTPN12; when associated with G-366.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "10092676", "url": "https://glygen.org/publication/PubMed/10092676" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Cys372", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of localization to focal adhesion; when associated with A-369.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "16183059", "url": "https://glygen.org/publication/PubMed/16183059" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Cys64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "N", "comment": "Increase in nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "12631731", "url": "https://glygen.org/publication/PubMed/12631731" } ] } ] }, { "uniprot_canonical_ac": "Q62219-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Cys91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Increase in nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q62219", "url": "https://www.uniprot.org/uniprotkb/Q62219" }, { "database": "PubMed", "id": "12631731", "url": "https://glygen.org/publication/PubMed/12631731" } ] } ] } ], "record_id": "Q62219-1" }, { "uniprot_canonical_ac": "P97366-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 809, "chemical_mass": 92943.0, "gene_names": "Evi5", "protein_name": "Ecotropic viral integration site 5 protein", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97366-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asn107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLRSVNGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "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": "P97366-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Asn685", "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": "LQGQLNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 685, "start_aa": "Asn", "end_pos": 685, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn685", "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": "P97366-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ] } ] }, { "uniprot_canonical_ac": "P97366-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97366", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97366" } ] } ] }, { "uniprot_canonical_ac": "P97366-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ] } ] }, { "uniprot_canonical_ac": "P97366-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" } ] } ] }, { "uniprot_canonical_ac": "P97366-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Ser776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" }, { "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": "P97366", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97366" } ] } ] }, { "uniprot_canonical_ac": "P97366-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Ser778", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97366", "url": "https://www.uniprot.org/uniprotkb/P97366" }, { "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": "P97366", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97366" } ] } ] } ], "record_id": "P97366-1" }, { "uniprot_canonical_ac": "O70405-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1051, "chemical_mass": 112463.0, "gene_names": "Ulk1;Ulk1;Unc51.1;mKIAA0722", "protein_name": "Serine/threonine-protein kinase ULK1", "disease": [ { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 } ], "biological_process": [ { "name": "radial glia guided migration of cerebellar granule cell", "id": "GO:0021933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021933", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "collateral sprouting", "id": "GO:0048668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048668", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "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": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "neuron projection regeneration", "id": "GO:0031102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031102", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "response to mitochondrial depolarisation", "id": "GO:0098780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098780", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "negative regulation of collateral sprouting", "id": "GO:0048671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048671", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cerebellar granule cell differentiation", "id": "GO:0021707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021707", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051386", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "regulation of protein lipidation", "id": "GO:1903059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903059", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "somatic sensory system development", "id": "GO:0160038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160038", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "Atg1/ULK1 kinase complex", "id": "GO:1990316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990316", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III", "id": "GO:0035032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035032", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "omegasome membrane", "id": "GO:1903349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903349", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70405-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Thr407", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 407, "start_aa": "Thr", "end_pos": 407, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr407", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Thr574", "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": 574, "start_aa": "Thr", "end_pos": 574, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr574", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O70405", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70405" }, { "id": "38056619", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38056619" }, { "id": "32850000", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32850000" }, { "id": "30031227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30031227" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "28903979", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28903979" }, { "id": "O70405", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70405" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21205641", "url": "https://glygen.org/publication/PubMed/21205641" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Ser582", "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": 582, "start_aa": "Ser", "end_pos": 582, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser582", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O70405", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Thr754", "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": 754, "start_aa": "Thr", "end_pos": 754, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr754", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O70405", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70405" }, { "id": "38056619", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38056619" }, { "id": "32850000", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32850000" }, { "id": "30031227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30031227" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "28903979", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28903979" }, { "id": "O70405", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Thr763", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 763, "start_aa": "Thr", "end_pos": 763, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr763", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Ser317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "24389528", "url": "https://glygen.org/publication/PubMed/24389528" }, { "database": "PubMed", "id": "25991723", "url": "https://glygen.org/publication/PubMed/25991723" }, { "database": "PubMed", "id": "26869683", "url": "https://glygen.org/publication/PubMed/26869683" }, { "database": "PubMed", "id": "27387347", "url": "https://glygen.org/publication/PubMed/27387347" }, { "database": "PubMed", "id": "27887947", "url": "https://glygen.org/publication/PubMed/27887947" }, { "database": "PubMed", "id": "28492544", "url": "https://glygen.org/publication/PubMed/28492544" }, { "database": "PubMed", "id": "30729040", "url": "https://glygen.org/publication/PubMed/30729040" }, { "database": "PubMed", "id": "31865844", "url": "https://glygen.org/publication/PubMed/31865844" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs phosphorylation by AMPK and ability to promote autophagy; when associated with A-777.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Thr456", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21205641", "url": "https://glygen.org/publication/PubMed/21205641" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Ser555", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "24389528", "url": "https://glygen.org/publication/PubMed/24389528" }, { "database": "PubMed", "id": "24449471", "url": "https://glygen.org/publication/PubMed/24449471" }, { "database": "PubMed", "id": "24732703", "url": "https://glygen.org/publication/PubMed/24732703" }, { "database": "PubMed", "id": "24988326", "url": "https://glygen.org/publication/PubMed/24988326" }, { "database": "PubMed", "id": "25071026", "url": "https://glygen.org/publication/PubMed/25071026" }, { "database": "PubMed", "id": "25905437", "url": "https://glygen.org/publication/PubMed/25905437" }, { "database": "PubMed", "id": "26039451", "url": "https://glygen.org/publication/PubMed/26039451" }, { "database": "PubMed", "id": "26556533", "url": "https://glygen.org/publication/PubMed/26556533" }, { "database": "PubMed", "id": "27119351", "url": "https://glygen.org/publication/PubMed/27119351" }, { "database": "PubMed", "id": "27387347", "url": "https://glygen.org/publication/PubMed/27387347" }, { "database": "PubMed", "id": "27464336", "url": "https://glygen.org/publication/PubMed/27464336" }, { "database": "PubMed", "id": "27887947", "url": "https://glygen.org/publication/PubMed/27887947" }, { "database": "PubMed", "id": "28916822", "url": "https://glygen.org/publication/PubMed/28916822" }, { "database": "PubMed", "id": "29348566", "url": "https://glygen.org/publication/PubMed/29348566" }, { "database": "PubMed", "id": "29540819", "url": "https://glygen.org/publication/PubMed/29540819" }, { "database": "PubMed", "id": "29732320", "url": "https://glygen.org/publication/PubMed/29732320" }, { "database": "PubMed", "id": "30022064", "url": "https://glygen.org/publication/PubMed/30022064" }, { "database": "PubMed", "id": "30112966", "url": "https://glygen.org/publication/PubMed/30112966" }, { "database": "PubMed", "id": "30544824", "url": "https://glygen.org/publication/PubMed/30544824" }, { "database": "PubMed", "id": "30729040", "url": "https://glygen.org/publication/PubMed/30729040" }, { "database": "PubMed", "id": "31005723", "url": "https://glygen.org/publication/PubMed/31005723" }, { "database": "PubMed", "id": "31225455", "url": "https://glygen.org/publication/PubMed/31225455" }, { "database": "PubMed", "id": "31469345", "url": "https://glygen.org/publication/PubMed/31469345" }, { "database": "PubMed", "id": "31594991", "url": "https://glygen.org/publication/PubMed/31594991" }, { "database": "PubMed", "id": "31865844", "url": "https://glygen.org/publication/PubMed/31865844" }, { "database": "PubMed", "id": "32299471", "url": "https://glygen.org/publication/PubMed/32299471" }, { "database": "PubMed", "id": "33128669", "url": "https://glygen.org/publication/PubMed/33128669" }, { "database": "PubMed", "id": "33800526", "url": "https://glygen.org/publication/PubMed/33800526" }, { "database": "PubMed", "id": "34074127", "url": "https://glygen.org/publication/PubMed/34074127" }, { "database": "PubMed", "id": "21205641", "url": "https://glygen.org/publication/PubMed/21205641" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Thr635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "32273498", "url": "https://glygen.org/publication/PubMed/32273498" }, { "database": "PubMed", "id": "21205641", "url": "https://glygen.org/publication/PubMed/21205641" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Ser638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "32273498", "url": "https://glygen.org/publication/PubMed/32273498" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Ser757", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "23964069", "url": "https://glygen.org/publication/PubMed/23964069" }, { "database": "PubMed", "id": "24389528", "url": "https://glygen.org/publication/PubMed/24389528" }, { "database": "PubMed", "id": "25780086", "url": "https://glygen.org/publication/PubMed/25780086" }, { "database": "PubMed", "id": "26039451", "url": "https://glygen.org/publication/PubMed/26039451" }, { "database": "PubMed", "id": "26487002", "url": "https://glygen.org/publication/PubMed/26487002" }, { "database": "PubMed", "id": "26869683", "url": "https://glygen.org/publication/PubMed/26869683" }, { "database": "PubMed", "id": "27119351", "url": "https://glygen.org/publication/PubMed/27119351" }, { "database": "PubMed", "id": "27246695", "url": "https://glygen.org/publication/PubMed/27246695" }, { "database": "PubMed", "id": "27314664", "url": "https://glygen.org/publication/PubMed/27314664" }, { "database": "PubMed", "id": "27343428", "url": "https://glygen.org/publication/PubMed/27343428" }, { "database": "PubMed", "id": "27387347", "url": "https://glygen.org/publication/PubMed/27387347" }, { "database": "PubMed", "id": "27617292", "url": "https://glygen.org/publication/PubMed/27617292" }, { "database": "PubMed", "id": "27887947", "url": "https://glygen.org/publication/PubMed/27887947" }, { "database": "PubMed", "id": "28492544", "url": "https://glygen.org/publication/PubMed/28492544" }, { "database": "PubMed", "id": "28674405", "url": "https://glygen.org/publication/PubMed/28674405" }, { "database": "PubMed", "id": "28916822", "url": "https://glygen.org/publication/PubMed/28916822" }, { "database": "PubMed", "id": "29540819", "url": "https://glygen.org/publication/PubMed/29540819" }, { "database": "PubMed", "id": "30022064", "url": "https://glygen.org/publication/PubMed/30022064" }, { "database": "PubMed", "id": "30729040", "url": "https://glygen.org/publication/PubMed/30729040" }, { "database": "PubMed", "id": "31005723", "url": "https://glygen.org/publication/PubMed/31005723" }, { "database": "PubMed", "id": "31261758", "url": "https://glygen.org/publication/PubMed/31261758" }, { "database": "PubMed", "id": "32207633", "url": "https://glygen.org/publication/PubMed/32207633" }, { "database": "PubMed", "id": "32512189", "url": "https://glygen.org/publication/PubMed/32512189" }, { "database": "PubMed", "id": "32987187", "url": "https://glygen.org/publication/PubMed/32987187" }, { "database": "PubMed", "id": "33459523", "url": "https://glygen.org/publication/PubMed/33459523" }, { "database": "PubMed", "id": "33562139", "url": "https://glygen.org/publication/PubMed/33562139" }, { "database": "PubMed", "id": "33800526", "url": "https://glygen.org/publication/PubMed/33800526" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" }, { "database": "PubMed", "id": "24187137", "url": "https://glygen.org/publication/PubMed/24187137" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs interaction with AMPK and subsequent phosphorylation by AMPK.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Impairs interaction with AMPK and subsequent phosphorylation by AMPK.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Ser774", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Ser777", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "iPTMnet", "id": "O70405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70405" }, { "database": "PubMed", "id": "27314664", "url": "https://glygen.org/publication/PubMed/27314664" }, { "database": "PubMed", "id": "27387347", "url": "https://glygen.org/publication/PubMed/27387347" }, { "database": "PubMed", "id": "28492544", "url": "https://glygen.org/publication/PubMed/28492544" }, { "database": "PubMed", "id": "28674405", "url": "https://glygen.org/publication/PubMed/28674405" }, { "database": "PubMed", "id": "32512189", "url": "https://glygen.org/publication/PubMed/32512189" }, { "database": "PubMed", "id": "33562139", "url": "https://glygen.org/publication/PubMed/33562139" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs phosphorylation by AMPK and ability to promote autophagy; when associated with A-317.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Lys162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "In K2R; abolished acetylation by KAT5/TIP60 and decreased kinase activity; when associated with R-606.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "22539723", "url": "https://glygen.org/publication/PubMed/22539723" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Lys46", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Abolished serine/threonine-protein kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "25723488", "url": "https://glygen.org/publication/PubMed/25723488" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of kinase activity and autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21205641", "url": "https://glygen.org/publication/PubMed/21205641" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ser494", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Lys606", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "In K2R; abolished acetylation by KAT5/TIP60 and decreased kinase activity; when associated with R-162.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "22539723", "url": "https://glygen.org/publication/PubMed/22539723" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Thr624", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] }, { "uniprot_canonical_ac": "O70405-1", "start_pos": "811", "end_pos": "811", "site_lbl": "Ser811", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation by AMPK in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O70405", "url": "https://www.uniprot.org/uniprotkb/O70405" }, { "database": "PubMed", "id": "21258367", "url": "https://glygen.org/publication/PubMed/21258367" } ] } ] } ], "record_id": "O70405-1" }, { "uniprot_canonical_ac": "P97314-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 193, "chemical_mass": 20926.0, "gene_names": "Csrp2;Crp2;Csrp2;Dlp1;SmLim", "protein_name": "Cysteine and glycine-rich protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "actinin binding", "id": "GO:0042805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042805", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" } ], "biological_process": [ { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "muscle tissue development", "id": "GO:0060537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060537", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97314", "url": "https://www.uniprot.org/uniprotkb/P97314" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P97314-1" }, { "uniprot_canonical_ac": "Q99LM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 56991.0, "gene_names": "Cdk5rap3;1810007E24Rik;C53;Cdk5rap3;HSF-27;IC53;LZAP;MST016", "protein_name": "CDK5 regulatory subunit-associated protein 3", "disease": [ { "disease_id": "DOID:0050709", "name": "early infantile epileptic encephalopathy", "description": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.", "url": "https://disease-ontology.org/term/DOID:0050709", "evidence": [ { "id": "0050709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050709" } ], "weight": 0.0 } ], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "definitive erythrocyte differentiation", "id": "GO:0060318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060318", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "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": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of protein serine/threonine kinase activity", "id": "GO:0071901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071901", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "apoptotic nuclear changes", "id": "GO:0030262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030262", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "positive regulation of signal transduction by p53 class mediator", "id": "GO:1901798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901798", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "positive regulation of proteolysis involved in protein catabolic process", "id": "GO:1903052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903052", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "regulation of phosphatase activity", "id": "GO:0010921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010921", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity by regulation of protein phosphorylation", "id": "GO:0044387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044387", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "protein ufmylation", "id": "GO:0071569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071569", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "positive regulation of reticulophagy", "id": "GO:0140501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140501", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "transferase complex", "id": "GO:1990234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990234", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "MDM2/MDM4 family protein binding", "id": "GO:0097371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "Q99LM2", "url": "https://www.uniprot.org/uniprotkb/Q99LM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LM2-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asn234", "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": "GNSTVYEWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "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" } ] } ] } ], "record_id": "Q99LM2-1" }, { "uniprot_canonical_ac": "Q3UBX0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 243, "chemical_mass": 26306.0, "gene_names": "Tmem109;1110006I15Rik;Tmem109", "protein_name": "Voltage-gated monoatomic cation channel TMEM109", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" } ], "biological_process": [ { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" } ], "molecular_function": [ { "name": "voltage-gated monoatomic cation channel activity", "id": "GO:0022843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022843", "evidence": [ { "database": "UniProtKB", "id": "Q3UBX0", "url": "https://www.uniprot.org/uniprotkb/Q3UBX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UBX0-1" }, { "uniprot_canonical_ac": "P57680-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1005, "chemical_mass": 113003.0, "gene_names": "Evc;Evc", "protein_name": "EvC complex member EVC", "disease": [ { "disease_id": "DOID:0111571", "name": "Weyers acrofacial dysostosis", "description": "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.", "url": "https://disease-ontology.org/term/DOID:0111571", "evidence": [ { "id": "0111571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111571" } ], "weight": 0.0 }, { "disease_id": "DOID:12714", "name": "Ellis-Van Creveld syndrome", "description": "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.", "url": "https://disease-ontology.org/term/DOID:12714", "evidence": [ { "id": "12714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12714" } ], "weight": 0.0 }, { "disease_id": "DOID:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.", "url": "https://disease-ontology.org/term/DOID:1657", "evidence": [ { "id": "1657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" } ], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "P57680", "url": "https://www.uniprot.org/uniprotkb/P57680" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P57680-1", "start_pos": "960", "end_pos": "960", "site_lbl": "Thr960", "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": 960, "start_aa": "Thr", "end_pos": 960, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr960", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "P57680", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P57680" } ] } ] } ], "record_id": "P57680-1" }, { "uniprot_canonical_ac": "O35927-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1247, "chemical_mass": 135000.0, "gene_names": "Ctnnd2;Catnd2;Ctnnd2;Nprap;neurojugin", "protein_name": "Catenin delta-2", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "organelle", "id": "GO:0043226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "neuron projection retraction", "id": "GO:0106028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106028", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" } ], "molecular_function": [ { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic density", "id": "GO:0098919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098919", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35927-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Thr1140", "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": 1140, "start_aa": "Thr", "end_pos": 1140, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1140", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Asn1184", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59324HL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KDYETYQPFPNSTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1184, "start_aa": "Asn", "end_pos": 1184, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1184", "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": "O35927-1", "start_pos": "1205", "end_pos": "1205", "site_lbl": "Ser1205", "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": 1205, "start_aa": "Ser", "end_pos": 1205, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1205", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "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": 174, "start_aa": "Ser", "end_pos": 174, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser174", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Thr177", "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": 177, "start_aa": "Thr", "end_pos": 177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr177", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "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": 264, "start_aa": "Ser", "end_pos": 264, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser264", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "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": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Thr268", "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": 268, "start_aa": "Thr", "end_pos": 268, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr268", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Thr269", "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": 269, "start_aa": "Thr", "end_pos": 269, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr269", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "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": 307, "start_aa": "Ser", "end_pos": 307, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser307", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "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": 309, "start_aa": "Ser", "end_pos": 309, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser309", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Thr310", "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": 310, "start_aa": "Thr", "end_pos": 310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr310", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "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": 319, "start_aa": "Ser", "end_pos": 319, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser319", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "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": 320, "start_aa": "Ser", "end_pos": 320, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser320", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "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": 324, "start_aa": "Ser", "end_pos": 324, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser324", "evidence": [ { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Thr329", "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": 329, "start_aa": "Thr", "end_pos": 329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr329", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "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": 330, "start_aa": "Ser", "end_pos": 330, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser330", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "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": 336, "start_aa": "Ser", "end_pos": 336, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser336", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Thr337", "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": 337, "start_aa": "Thr", "end_pos": 337, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr337", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ser339", "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": 339, "start_aa": "Ser", "end_pos": 339, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser339", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "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": 340, "start_aa": "Ser", "end_pos": 340, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser340", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "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": 341, "start_aa": "Ser", "end_pos": 341, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser341", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "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": 370, "start_aa": "Ser", "end_pos": 370, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser370", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Thr379", "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": 379, "start_aa": "Thr", "end_pos": 379, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr379", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "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": 433, "start_aa": "Ser", "end_pos": 433, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser433", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "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": 435, "start_aa": "Ser", "end_pos": 435, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser435", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "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": 437, "start_aa": "Ser", "end_pos": 437, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser437", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "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": 447, "start_aa": "Thr", "end_pos": 447, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr447", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Thr449", "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": 449, "start_aa": "Thr", "end_pos": 449, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr449", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Thr452", "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": 452, "start_aa": "Thr", "end_pos": 452, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr452", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Ser453", "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": 453, "start_aa": "Ser", "end_pos": 453, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser453", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "O35927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35927" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22826440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22826440" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Thr454", "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": 454, "start_aa": "Thr", "end_pos": 454, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr454", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" }, { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Ser457", "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": 457, "start_aa": "Ser", "end_pos": 457, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser457", "evidence": [ { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "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": 458, "start_aa": "Ser", "end_pos": 458, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser458", "evidence": [ { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "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": 463, "start_aa": "Ser", "end_pos": 463, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser463", "evidence": [ { "id": "16452088", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16452088" }, { "id": "O35927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "970", "end_pos": "970", "site_lbl": "Asn970", "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": "LPGGNNSNNSGSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 970, "start_aa": "Asn", "end_pos": 970, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn970", "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": "O35927-1", "start_pos": "1087", "end_pos": "1087", "site_lbl": "Ser1087", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "1098", "end_pos": "1098", "site_lbl": "Ser1098", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Tyr513", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] }, { "uniprot_canonical_ac": "O35927-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35927", "url": "https://www.uniprot.org/uniprotkb/O35927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35927" } ] } ] } ], "record_id": "O35927-1" }, { "uniprot_canonical_ac": "O08582-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 668, "chemical_mass": 72301.0, "gene_names": "Gtpbp1;GP-1;Gtpbp1;Gtpbp", "protein_name": "GTP-binding protein 1", "disease": [], "biological_process": [ { "name": "RNA surveillance", "id": "GO:0071025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071025", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "positive regulation of mRNA catabolic process", "id": "GO:0061014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061014", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "translational elongation", "id": "GO:0006414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006414", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "alpha-aminoacyl-tRNA binding", "id": "GO:1904678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904678", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" }, { "name": "cytoplasmic exosome (RNase complex)", "id": "GO:0000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000177", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08582-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Thr663", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 663, "start_aa": "Thr", "end_pos": 663, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr663", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "79604281", "evidence": [ { "id": "rs3389380559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389380559" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "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": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "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": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "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": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] }, { "uniprot_canonical_ac": "O08582-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08582", "url": "https://www.uniprot.org/uniprotkb/O08582" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O08582", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08582" } ] } ] } ], "record_id": "O08582-1" }, { "uniprot_canonical_ac": "P52194-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 611, "chemical_mass": 69431.0, "gene_names": "Clgn;4930459O04Rik;A2/6;Clgn;Cln;Meg1", "protein_name": "Calmegin", "disease": [], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P52194-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Ser578", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P52194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P52194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Ser582", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P52194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Ser592", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P52194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Ser595", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P52194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Ser602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P52194", "url": "https://www.uniprot.org/uniprotkb/P52194" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Val112", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84126634", "evidence": [ { "id": "rs3388995265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995265" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Glu127", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84126679", "evidence": [ { "id": "rs16789369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16789369" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Pro129", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84126685", "evidence": [ { "id": "rs3388945415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388945415" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ile138", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84126712", "evidence": [ { "id": "rs3388995264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995264" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ile15", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84122123", "evidence": [ { "id": "rs3388993052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388993052" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "197", "end_pos": "197", "site_lbl": "His197", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84136204", "evidence": [ { "id": "rs3388995255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995255" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ala210", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84136242", "evidence": [ { "id": "rs13472407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13472407" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asp223", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84136281", "evidence": [ { "id": "rs3388976469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388976469" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Val241", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137005", "evidence": [ { "id": "rs247234640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247234640" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Val247", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137024", "evidence": [ { "id": "rs3388991553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388991553" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asp24", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84122150", "evidence": [ { "id": "rs255346150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255346150" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Ser271", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137095", "evidence": [ { "id": "rs3388995497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995497" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Glu276", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137110", "evidence": [ { "id": "rs3388964591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964591" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Val290", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137151_84137152insTGACGGCG", "evidence": [ { "id": "rs3399338111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399338111" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Arg291", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84137156", "evidence": [ { "id": "rs16789437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16789437" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Arg2", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84122085", "evidence": [ { "id": "rs13479864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13479864" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Asp30", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84122168", "evidence": [ { "id": "rs3388992984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388992984" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Trp333", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84147048", "evidence": [ { "id": "rs3388987464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987464" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asn34", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84122180", "evidence": [ { "id": "rs3399166177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399166177" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Pro374", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84147169", "evidence": [ { "id": "rs3388995259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995259" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ile391", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84149672", "evidence": [ { "id": "rs3388993716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388993716" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Pro420", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84149759", "evidence": [ { "id": "rs3388992983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388992983" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Val463", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84150723", "evidence": [ { "id": "rs3388998782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388998782" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Ile464", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84150728", "evidence": [ { "id": "rs3388998797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388998797" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Glu467", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84150735", "evidence": [ { "id": "rs3388987438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987438" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ala480", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84150775", "evidence": [ { "id": "rs3388995282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995282" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Val484", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84150786", "evidence": [ { "id": "rs3546787344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546787344" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Pro541", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84151329", "evidence": [ { "id": "rs16789483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16789483" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Gly542", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84151332", "evidence": [ { "id": "rs16789484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16789484" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Thr548", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84151351", "evidence": [ { "id": "rs16789485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16789485" } ] } ] }, { "uniprot_canonical_ac": "P52194-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/calnexin-like.", "chr_id": "8", "chr_pos": "84123692", "evidence": [ { "id": "rs3388992819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388992819" } ] } ] } ], "record_id": "P52194-1" }, { "uniprot_canonical_ac": "Q3TWN3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 875, "chemical_mass": 96704.0, "gene_names": "Cnnm2;Acdp2;Clp2;Cnnm2", "protein_name": "Metal transporter CNNM2", "disease": [ { "disease_id": "DOID:0060884", "name": "renal hypomagnesemia 6", "description": "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0060884", "evidence": [ { "id": "0060884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060884" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" } ], "biological_process": [ { "name": "magnesium ion transport", "id": "GO:0015693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015693", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" }, { "name": "magnesium ion transmembrane transporter activity", "id": "GO:0015095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015095", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Asn112", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYGQNINNETWSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "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" } ] }, { "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": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "Q3TWN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3#ptm_processing" }, { "id": "22399287", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22399287" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of N-glycosylation; 90% decrease of plasma membrane expression.", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" }, { "database": "PubMed", "id": "22399287", "url": "https://glygen.org/publication/PubMed/22399287" } ] } ] }, { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Asn527", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FYNHPLHFVFNDTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 527, "start_aa": "Asn", "end_pos": 527, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn527", "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" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" }, { "database": "PubMed", "id": "22399287", "url": "https://glygen.org/publication/PubMed/22399287" } ] } ] }, { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Asn757", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPPRPCGLNHSDSLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 757, "start_aa": "Asn", "end_pos": 757, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn757", "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": "Q3TWN3-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Ser761", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" } ] } ] }, { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Ser759", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->NHL).", "chr_id": "19", "chr_pos": "46865689", "evidence": [ { "id": "rs3389501380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389501380" } ] } ] }, { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Asn327", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" }, { "database": "PubMed", "id": "22399287", "url": "https://glygen.org/publication/PubMed/22399287" } ] } ] }, { "uniprot_canonical_ac": "Q3TWN3-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Asn591", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q3TWN3", "url": "https://www.uniprot.org/uniprotkb/Q3TWN3" }, { "database": "PubMed", "id": "22399287", "url": "https://glygen.org/publication/PubMed/22399287" } ] } ] } ], "record_id": "Q3TWN3-1" }, { "uniprot_canonical_ac": "Q80YA9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1032, "chemical_mass": 117396.0, "gene_names": "Cnksr2;Cnk2;Cnksr2;Kiaa0902;Ksr2", "protein_name": "Connector enhancer of kinase suppressor of ras 2", "disease": [ { "disease_id": "DOID:0080242", "name": "syndromic X-linked mental retardation Hough type", "description": "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:0080242", "evidence": [ { "id": "0080242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080242" } ], "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": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "extrinsic component of postsynaptic density membrane", "id": "GO:0099147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099147", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" }, { "name": "postsynaptic specialization organization", "id": "GO:0099084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099084", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "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": 325, "start_aa": "Ser", "end_pos": 325, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser325", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q80YA9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YA9" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "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": 328, "start_aa": "Ser", "end_pos": 328, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser328", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q80YA9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YA9" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "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": 329, "start_aa": "Ser", "end_pos": 329, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser329", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q80YA9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YA9" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Thr332", "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": 332, "start_aa": "Thr", "end_pos": 332, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr332", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q80YA9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YA9" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 332, "start_aa": "Thr", "end_pos": 332, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr332", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Thr336", "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": 336, "start_aa": "Thr", "end_pos": 336, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr336", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Thr533", "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": 533, "start_aa": "Thr", "end_pos": 533, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr533", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ser731", "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": 731, "start_aa": "Ser", "end_pos": 731, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser731", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q80YA9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YA9" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "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": 736, "start_aa": "Ser", "end_pos": 736, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser736", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q80YA9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Tyr683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "756", "end_pos": "756", "site_lbl": "Ser756", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Ser767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Ser906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YA9", "url": "https://www.uniprot.org/uniprotkb/Q80YA9" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YA9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YA9" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Ser1009", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "X", "chr_pos": "156606690", "evidence": [ { "id": "rs3389532609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532609" } ] } ] }, { "uniprot_canonical_ac": "Q80YA9-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ile103", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "X", "chr_pos": "156776850", "evidence": [ { "id": "rs1132622623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132622623" } ] } ] } ], "record_id": "Q80YA9-1" }, { "uniprot_canonical_ac": "Q8BMA3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 555, "chemical_mass": 61870.0, "gene_names": "Cnksr3;6820402C05;Cnksr3;Magi1", "protein_name": "Connector enhancer of kinase suppressor of ras 3", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transmembrane transporter activity", "id": "GO:2000651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000651", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BMA3-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q8BMA3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8BMA3" }, { "database": "iPTMnet", "id": "Q8BMA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BMA3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] } ] }, { "uniprot_canonical_ac": "Q8BMA3-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMA3", "url": "https://www.uniprot.org/uniprotkb/Q8BMA3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BMA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BMA3" } ] } ] } ], "record_id": "Q8BMA3-1" }, { "uniprot_canonical_ac": "P35329-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 868, "chemical_mass": 97181.0, "gene_names": "Cd22;A530093D23;Cd22;Lyb-8;Lyb8;Siglec2", "protein_name": "B-cell receptor CD22", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of calcium-mediated signaling", "id": "GO:0050849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050849", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "regulation of B cell proliferation", "id": "GO:0030888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030888", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "negative regulation of B cell receptor signaling pathway", "id": "GO:0050859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050859", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "negative regulation of immunoglobulin production", "id": "GO:0002638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002638", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "CD4 receptor binding", "id": "GO:0042609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042609", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35329-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Asn111", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IDNCTLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 111, "start_aa": "Asn", "end_pos": 111, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn111", "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" } ] }, { "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": 111, "start_aa": "Asn", "end_pos": 111, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn111", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "7", "chr_pos": "30576974", "evidence": [ { "id": "rs3388882437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388882437" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IHPIRANDSGNLGLR", "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" } ] }, { "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": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Asn145", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Asn271", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNPTEVEKNNSVTMTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "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" } ] }, { "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": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Asn281", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Asn384", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 384, "start_aa": "Asn", "end_pos": 384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn384", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Asn414", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27126ED", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VSPWHAGNYSCLAENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 414, "start_aa": "Asn", "end_pos": 414, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn414", "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" } ] }, { "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": 414, "start_aa": "Asn", "end_pos": 414, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn414", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Asn466", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YNSSNPDVTSYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 466, "start_aa": "Asn", "end_pos": 466, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn466", "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" } ] }, { "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": 466, "start_aa": "Asn", "end_pos": 466, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn466", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Asn567", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25952OG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGSLVQEGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 567, "start_aa": "Asn", "end_pos": 567, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn567", "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" } ] }, { "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": 567, "start_aa": "Asn", "end_pos": 567, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn567", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Asn595", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 595, "start_aa": "Asn", "end_pos": 595, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn595", "evidence": [ { "id": "P35329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35329#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Thr801", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 801, "start_aa": "Thr", "end_pos": 801, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr801", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Ser747", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Ser750", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Tyr783", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "10373493", "url": "https://glygen.org/publication/PubMed/10373493" }, { "database": "IntAct", "id": "P35329", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35329*" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" }, { "database": "PubMed", "id": "9890995", "url": "https://glygen.org/publication/PubMed/9890995" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Tyr828", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "10373493", "url": "https://glygen.org/publication/PubMed/10373493" }, { "database": "IntAct", "id": "P35329", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35329*" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" }, { "database": "PubMed", "id": "11551923", "url": "https://glygen.org/publication/PubMed/11551923" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes binding to GRB2.", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "10373493", "url": "https://glygen.org/publication/PubMed/10373493" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Tyr843", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "10373493", "url": "https://glygen.org/publication/PubMed/10373493" }, { "database": "IntAct", "id": "P35329", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35329*" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" }, { "database": "PubMed", "id": "11551923", "url": "https://glygen.org/publication/PubMed/11551923" }, { "database": "PubMed", "id": "9890995", "url": "https://glygen.org/publication/PubMed/9890995" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Tyr863", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35329", "url": "https://www.uniprot.org/uniprotkb/P35329" }, { "database": "PubMed", "id": "10373493", "url": "https://glygen.org/publication/PubMed/10373493" }, { "database": "IntAct", "id": "P35329", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35329*" }, { "database": "iPTMnet", "id": "P35329", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35329" }, { "database": "PubMed", "id": "11551923", "url": "https://glygen.org/publication/PubMed/11551923" }, { "database": "PubMed", "id": "9890995", "url": "https://glygen.org/publication/PubMed/9890995" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->NDN).", "chr_id": "7", "chr_pos": "30576935", "evidence": [ { "id": "rs5527995998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527995998" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ser166", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "7", "chr_pos": "30575544", "evidence": [ { "id": "rs245411100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245411100" } ] } ] }, { "uniprot_canonical_ac": "P35329-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Thr386", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "7", "chr_pos": "30572316", "evidence": [ { "id": "rs48215301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48215301" } ] } ] } ], "record_id": "P35329-1" }, { "uniprot_canonical_ac": "P84089-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 104, "chemical_mass": 12259.0, "gene_names": "Erh;Erh;Mer;Prei1", "protein_name": "Enhancer of rudimentary homolog", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" }, { "name": "methylosome", "id": "GO:0034709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" } ], "molecular_function": [ { "name": "methyl-CpG binding", "id": "GO:0008327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008327", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" } ], "biological_process": [ { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P84089-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Thr11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84089", "url": "https://www.uniprot.org/uniprotkb/P84089" } ] } ] } ], "record_id": "P84089-1" }, { "uniprot_canonical_ac": "Q91X84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 619, "chemical_mass": 67027.0, "gene_names": "Crtc3;2610312F20Rik;6332415K15Rik;Crtc3;TORC3;Torc3", "protein_name": "CREB-regulated transcription coactivator 3", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "cAMP response element binding protein binding", "id": "GO:0008140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008140", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "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": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071878", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Thr450", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 450, "start_aa": "Thr", "end_pos": 450, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr450", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Up-regulates CREB transcription factor activity. Reduces interaction with 14-3-3 proteins. Abolishes interaction with 14-3-3 proteins without affecting the interaction with PPP2R1A; when associated with A-273.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" }, { "database": "PubMed", "id": "29211348", "url": "https://glygen.org/publication/PubMed/29211348" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces interaction with 14-3-3 proteins. Abolishes interaction with 14-3-3 proteins without affecting the interaction with PPP2R1A; when associated with A-162.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces interaction with 14-3-3 proteins without affecting the interaction with PPP2R1A; when associated with A-62 and A-370.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces interaction with 14-3-3 proteins without affecting the interaction with PPP2R1A; when associated with A-62 and A-329.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. Abolishes interaction with PPP2CA and PPP2R1A. Slight increase in phosphorylation at Ser-273 and in the interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes phosphorylation. Abolishes interaction with PPP2CA and PPP2R1A. Slight increase in phosphorylation at Ser-273 and in the interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect phosphorylation at Ser-391 or the interaction with PPP2CA and PPP2R1A.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "28235073", "url": "https://glygen.org/publication/PubMed/28235073" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X84", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X84" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces interaction with 14-3-3 proteins without affecting the interaction with PPP2R1A; when associated with A-329 and A-370.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ile548", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "7", "chr_pos": "80240118", "evidence": [ { "id": "rs3388901731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901731" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Pro392", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes phosphorylation at Ser-391. Abolishes interaction with PPP2CA and PPP2R1A.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] }, { "uniprot_canonical_ac": "Q91X84-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect phosphorylation at Ser-391 or the interaction with PPP2CA and PPP2R1A.", "evidence": [ { "database": "UniProtKB", "id": "Q91X84", "url": "https://www.uniprot.org/uniprotkb/Q91X84" }, { "database": "PubMed", "id": "30611118", "url": "https://glygen.org/publication/PubMed/30611118" } ] } ] } ], "record_id": "Q91X84-1" }, { "uniprot_canonical_ac": "Q9D1K7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 174, "chemical_mass": 19476.0, "gene_names": "Adissp;1700037H04Rik;Adissp", "protein_name": "Adipose-secreted signaling protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "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": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990845", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D1K7-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1K7", "url": "https://www.uniprot.org/uniprotkb/Q9D1K7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D1K7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D1K7" } ] } ] } ], "record_id": "Q9D1K7-1" }, { "uniprot_canonical_ac": "Q5SXY1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1067, "chemical_mass": 118101.0, "gene_names": "Specc1;Cytsb;Kiaa4061", "protein_name": "Cytospin-B", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" } ], "biological_process": [ { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 135, "start_aa": "Thr", "end_pos": 135, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr135", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Thr28", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 28, "start_aa": "Thr", "end_pos": 28, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr28", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Ser133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Thr357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Ser847", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SXY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ser863", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Ser914", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SXY1", "url": "https://www.uniprot.org/uniprotkb/Q5SXY1" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SHT->NHT).", "chr_id": "11", "chr_pos": "62009045", "evidence": [ { "id": "rs3389161566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389161566" } ] } ] }, { "uniprot_canonical_ac": "Q5SXY1-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Gly503", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQG->NQC).", "chr_id": "11", "chr_pos": "62009752", "evidence": [ { "id": "rs3389163636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389163636" } ] } ] } ], "record_id": "Q5SXY1-1" }, { "uniprot_canonical_ac": "Q5NBX1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1337, "chemical_mass": 143865.0, "gene_names": "Cobl;Cobl;Kiaa0633", "protein_name": "Protein cordon-bleu", "disease": [], "biological_process": [ { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "collateral sprouting in absence of injury", "id": "GO:0048669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048669", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "actin filament network formation", "id": "GO:0051639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051639", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "floor plate development", "id": "GO:0033504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033504", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "somite specification", "id": "GO:0001757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001757", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "dendritic growth cone", "id": "GO:0044294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044294", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" }, { "name": "terminal web", "id": "GO:1990357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990357", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "1031", "end_pos": "1031", "site_lbl": "Asn1031", "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": "VEVNSTYGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1031, "start_aa": "Asn", "end_pos": 1031, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1031", "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": "Q5NBX1-1", "start_pos": "1114", "end_pos": "1114", "site_lbl": "Asn1114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILMNGSAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1114, "start_aa": "Asn", "end_pos": 1114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1114", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "11", "chr_pos": "12203361", "evidence": [ { "id": "rs215083680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215083680" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Asn820", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G88520YF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IDELGNLVSPHMNGSRTISPPSAVVETDTPPIGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 820, "start_aa": "Asn", "end_pos": 820, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn820", "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": "Q5NBX1-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Ser926", "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": 926, "start_aa": "Ser", "end_pos": 926, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser926", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q5NBX1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5NBX1" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q5NBX1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "Ser1038", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "1128", "end_pos": "1128", "site_lbl": "Ser1128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5NBX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "1303", "end_pos": "1303", "site_lbl": "Ser1303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5NBX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Ser346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5NBX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5NBX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Thr522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5NBX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Ser816", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NBX1", "url": "https://www.uniprot.org/uniprotkb/Q5NBX1" } ] } ] }, { "uniprot_canonical_ac": "Q5NBX1-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Ser536", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "11", "chr_pos": "12216880", "evidence": [ { "id": "rs259023505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259023505" } ] } ] } ], "record_id": "Q5NBX1-1" }, { "uniprot_canonical_ac": "Q9D7G4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7G4", "url": "https://www.uniprot.org/uniprotkb/Q9D7G4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 290, "chemical_mass": 32883.0, "gene_names": "D16Ertd472e;Eurl;1700010I10Rik;2310009O17Rik;D16Ertd472e;E330003K22Rik;Eurl", "protein_name": "Protein EURL homolog", "disease": [], "biological_process": [ { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q9D7G4", "url": "https://www.uniprot.org/uniprotkb/Q9D7G4" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "Q9D7G4", "url": "https://www.uniprot.org/uniprotkb/Q9D7G4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D7G4-1" }, { "uniprot_canonical_ac": "Q9R1N9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 751, "chemical_mass": 73172.0, "gene_names": "Col13a1;Col13a1", "protein_name": "Collagen alpha-1(XIII) chain", "disease": [ { "disease_id": "DOID:0110673", "name": "congenital myasthenic syndrome 19", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0110673", "evidence": [ { "id": "0110673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110673" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q9R1N9", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R1N9-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Thr125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 125, "start_aa": "Thr", "end_pos": 125, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr125", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R1N9-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Thr355", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 355, "start_aa": "Thr", "end_pos": 355, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr355", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R1N9-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Asn451", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90575OW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GAKGEPGKGEMVDYNGSINEALQEIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 451, "start_aa": "Asn", "end_pos": 451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "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" } ] }, { "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": 451, "start_aa": "Asn", "end_pos": 451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "evidence": [ { "id": "Q9R1N9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R1N9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R1N9-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Thr484", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 484, "start_aa": "Thr", "end_pos": 484, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr484", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R1N9-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Thr663", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 663, "start_aa": "Thr", "end_pos": 663, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr663", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9R1N9-1" }, { "uniprot_canonical_ac": "P97792-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 365, "chemical_mass": 39948.0, "gene_names": "Cxadr;2610206D03Rik;CAR;Car;Cxadr;MCAR;MCVADR", "protein_name": "Coxsackievirus and adenovirus receptor homolog", "disease": [], "molecular_function": [ { "name": "connexin binding", "id": "GO:0071253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071253", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell adhesive protein binding involved in AV node cell-bundle of His cell communication", "id": "GO:0086082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086082", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" } ], "biological_process": [ { "name": "homotypic cell-cell adhesion", "id": "GO:0034109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034109", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "gamma-delta T cell activation", "id": "GO:0046629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046629", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell proliferation", "id": "GO:0060044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060044", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "AV node cell to bundle of His cell communication", "id": "GO:0086067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086067", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "AV node cell-bundle of His cell adhesion involved in cell communication", "id": "GO:0086072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086072", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "regulation of AV node cell action potential", "id": "GO:0098904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098904", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in wound healing", "id": "GO:0060054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060054", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97792-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Asn106", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SGDASINVTNLQLSDIGTYQCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "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" } ] }, { "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": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "P97792", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97792#ptm_processing" }, { "id": "20813955", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20813955" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Asn201", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10773YW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 201, "start_aa": "Asn", "end_pos": 201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2238", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2238" } ] }, { "glytoucan_ac": "G29299MO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NASSEYSGTYSCTVQNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 201, "start_aa": "Asn", "end_pos": 201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "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": "P97792-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Asn344", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VAAPNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 344, "start_aa": "Asn", "end_pos": 344, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn344", "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": "P97792-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97792", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97792" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97792", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97792" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97792", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97792" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" }, { "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": "P97792", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97792" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" } ] } ] }, { "uniprot_canonical_ac": "P97792-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97792", "url": "https://www.uniprot.org/uniprotkb/P97792" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97792", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97792" } ] } ] } ], "record_id": "P97792-1" }, { "uniprot_canonical_ac": "P22892-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 822, "chemical_mass": 91350.0, "gene_names": "Ap1g1;Adtg;Ap1g1;Clapg1;D8Ertd374e", "protein_name": "AP-1 complex subunit gamma-1", "disease": [], "biological_process": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "synaptic vesicle budding from endosome", "id": "GO:0016182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016182", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "Golgi to lysosome transport", "id": "GO:0090160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090160", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell degranulation", "id": "GO:0043323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043323", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "basolateral protein secretion", "id": "GO:0110010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110010", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "AP-1 adaptor complex", "id": "GO:0030121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030121", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" } ], "molecular_function": [ { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P22892-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Thr674", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 674, "start_aa": "Thr", "end_pos": 674, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr674", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P22892-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ala753", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Strongly reduces interaction with EPS15 and SYNRG.", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" }, { "database": "PubMed", "id": "12176391", "url": "https://glygen.org/publication/PubMed/12176391" } ] } ] }, { "uniprot_canonical_ac": "P22892-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Leu762", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Strongly reduces interaction with EPS15 and SYNRG.", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" }, { "database": "PubMed", "id": "12176391", "url": "https://glygen.org/publication/PubMed/12176391" } ] } ] }, { "uniprot_canonical_ac": "P22892-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Pro765", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "N", "comment": "Reduces interaction with EPS15 and SYNRG.", "evidence": [ { "database": "UniProtKB", "id": "P22892", "url": "https://www.uniprot.org/uniprotkb/P22892" }, { "database": "PubMed", "id": "12176391", "url": "https://glygen.org/publication/PubMed/12176391" } ] } ] } ], "record_id": "P22892-1" }, { "uniprot_canonical_ac": "A2A8L1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1946, "chemical_mass": 222515.0, "gene_names": "Chd5;4930532L22Rik;B230399N07Rik;CHD-5;Chd5;Kiaa0444", "protein_name": "ATP-dependent chromatin remodeler CHD5", "disease": [ { "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 } ], "biological_process": [ { "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": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "positive regulation of signal transduction by p53 class mediator", "id": "GO:1901798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901798", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "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": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "histone H3K27me3 reader activity", "id": "GO:0061628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061628", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" }, { "name": "NuRD complex", "id": "GO:0016581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016581", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "1152", "end_pos": "1152", "site_lbl": "Thr1152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1152, "start_aa": "Thr", "end_pos": 1152, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1152", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "1556", "end_pos": "1556", "site_lbl": "Ser1556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A8L1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A8L1" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Lys976", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSK->NST).", "chr_id": "4", "chr_pos": "152456591", "evidence": [ { "id": "rs3388730068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730068" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Asp346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on interaction with histone H3 unmethylated at 'Lys-4'. No significant effect on the ability to repress target genes expression. No effect on regulation of cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Gly355", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of the ability to negatively regulate cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asp361", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of interaction with histone H3 unmethylated at 'Lys-4'. Loss of the ability to repress target genes expression. Loss of the ability to negatively regulate cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Asp415", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of interaction with histone H3 unmethylated at 'Lys-4'. Loss of the ability to negatively regulate cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Cys432", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Loss of the ability to negatively regulate cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] }, { "uniprot_canonical_ac": "A2A8L1-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Asp434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of interaction with histone H3 unmethylated at 'Lys-4'. Loss of the ability to repress target genes expression. Loss of the ability to negatively regulate cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2A8L1", "url": "https://www.uniprot.org/uniprotkb/A2A8L1" }, { "database": "PubMed", "id": "23318260", "url": "https://glygen.org/publication/PubMed/23318260" } ] } ] } ], "record_id": "A2A8L1-1" }, { "uniprot_canonical_ac": "A2AUM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1736, "chemical_mass": 196534.0, "gene_names": "Cep152;Cep152;Kiaa0912;mKIAA0912", "protein_name": "Centrosomal protein of 152 kDa", "disease": [ { "disease_id": "DOID:0070012", "name": "Seckel syndrome 5", "description": "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0070012", "evidence": [ { "id": "0070012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070012" } ], "weight": 0.0 }, { "disease_id": "DOID:0070292", "name": "primary autosomal recessive microcephaly 9", "description": "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0070292", "evidence": [ { "id": "0070292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070292" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "deuterosome", "id": "GO:0098536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098536", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "procentriole replication complex", "id": "GO:0120099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120099", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "procentriole", "id": "GO:0120098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120098", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" }, { "name": "de novo centriole assembly involved in multi-ciliated epithelial cell differentiation", "id": "GO:0098535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098535", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AUM9-1", "start_pos": "1277", "end_pos": "1277", "site_lbl": "Thr1277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprotkb/A2AUM9" } ] } ] } ], "record_id": "A2AUM9-1" }, { "uniprot_canonical_ac": "E9Q309-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3095, "chemical_mass": 346456.0, "gene_names": "Cep350;4933409L06Rik;6430546F08Rik;Cep350;Kiaa0480", "protein_name": "Centrosome-associated protein 350", "disease": [], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" } ], "biological_process": [ { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" }, { "name": "microtubule anchoring", "id": "GO:0034453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034453", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1287", "end_pos": "1287", "site_lbl": "Thr1287", "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": 1287, "start_aa": "Thr", "end_pos": 1287, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1287", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "E9Q309", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q309" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "E9Q309", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1822", "end_pos": "1822", "site_lbl": "Ser1822", "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": 1822, "start_aa": "Ser", "end_pos": 1822, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1822", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "E9Q309", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q309" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2560", "end_pos": "2560", "site_lbl": "Thr2560", "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": 2560, "start_aa": "Thr", "end_pos": 2560, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2560", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "E9Q309", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q309" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Ser291", "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": 291, "start_aa": "Ser", "end_pos": 291, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser291", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "E9Q309", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q309" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "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": 645, "start_aa": "Ser", "end_pos": 645, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser645", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "E9Q309", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q309" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1057", "end_pos": "1057", "site_lbl": "Ser1057", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ser1200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1253", "end_pos": "1253", "site_lbl": "Thr1253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1256", "end_pos": "1256", "site_lbl": "Ser1256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1259", "end_pos": "1259", "site_lbl": "Ser1259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1606", "end_pos": "1606", "site_lbl": "Ser1606", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1641", "end_pos": "1641", "site_lbl": "Ser1641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1646", "end_pos": "1646", "site_lbl": "Ser1646", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1812", "end_pos": "1812", "site_lbl": "Ser1812", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1930", "end_pos": "1930", "site_lbl": "Ser1930", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2108", "end_pos": "2108", "site_lbl": "Ser2108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2198", "end_pos": "2198", "site_lbl": "Ser2198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2421", "end_pos": "2421", "site_lbl": "Ser2421", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2450", "end_pos": "2450", "site_lbl": "Ser2450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2671", "end_pos": "2671", "site_lbl": "Thr2671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2809", "end_pos": "2809", "site_lbl": "Ser2809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "2818", "end_pos": "2818", "site_lbl": "Ser2818", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Ser468", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Ser691", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Ser874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Ser935", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q309", "url": "https://www.uniprot.org/uniprotkb/E9Q309" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q309", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q309" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "1575", "end_pos": "1575", "site_lbl": "Asp1575", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "1", "chr_pos": "155782283", "evidence": [ { "id": "rs3388505281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388505281" } ] } ] }, { "uniprot_canonical_ac": "E9Q309-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Lys571", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "1", "chr_pos": "155808862", "evidence": [ { "id": "rs3388504936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388504936" } ] } ] } ], "record_id": "E9Q309-1" }, { "uniprot_canonical_ac": "E9Q7P9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1308, "chemical_mass": 142633.0, "gene_names": "Cdhr2;Cdhr2;Gm624;PC-LKC;Pcdh24", "protein_name": "Cadherin-related family member 2", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "brush border assembly", "id": "GO:1904970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904970", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "regulation of microvillus length", "id": "GO:0032532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032532", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "negative regulation of cell growth involved in contact inhibition", "id": "GO:0060243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060243", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "intermicrovillar adhesion", "id": "GO:0090675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090675", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7P9-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Ser1245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" } ] } ] }, { "uniprot_canonical_ac": "E9Q7P9-1", "start_pos": "1297", "end_pos": "1297", "site_lbl": "Ser1297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7P9", "url": "https://www.uniprot.org/uniprotkb/E9Q7P9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q7P9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q7P9" } ] } ] } ], "record_id": "E9Q7P9-1" }, { "uniprot_canonical_ac": "Q70KF4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3739, "chemical_mass": 413040.0, "gene_names": "Cmya5;Sr553;Srfsd;Tims", "protein_name": "Cardiomyopathy-associated protein 5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070885", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" }, { "name": "regulation of skeletal muscle adaptation", "id": "GO:0014733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014733", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "1304", "end_pos": "1304", "site_lbl": "Thr1304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1304, "start_aa": "Thr", "end_pos": 1304, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1304", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Thr1691", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1691, "start_aa": "Thr", "end_pos": 1691, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1691", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2676", "end_pos": "2676", "site_lbl": "Ser2676", "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": 2676, "start_aa": "Ser", "end_pos": 2676, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2676", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q70KF4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q70KF4" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2724", "end_pos": "2724", "site_lbl": "Thr2724", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2724, "start_aa": "Thr", "end_pos": 2724, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2724", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Thr370", "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": 370, "start_aa": "Thr", "end_pos": 370, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr370", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q70KF4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q70KF4" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "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": 377, "start_aa": "Ser", "end_pos": 377, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser377", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q70KF4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q70KF4" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2192", "end_pos": "2192", "site_lbl": "Ser2192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2411", "end_pos": "2411", "site_lbl": "Ser2411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2495", "end_pos": "2495", "site_lbl": "Ser2495", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "2905", "end_pos": "2905", "site_lbl": "Ser2905", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Ser850", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q70KF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KF4" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Asp366", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "13", "chr_pos": "93233991", "evidence": [ { "id": "rs3389304730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389304730" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "3197", "end_pos": "3197", "site_lbl": "Leu3197", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Complete loss of PRKAR2A-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "17499862", "url": "https://glygen.org/publication/PubMed/17499862" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "3309", "end_pos": "3309", "site_lbl": "Leu3309", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Complete loss of PRKAR2A-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "17499862", "url": "https://glygen.org/publication/PubMed/17499862" } ] } ] }, { "uniprot_canonical_ac": "Q70KF4-1", "start_pos": "3437", "end_pos": "3437", "site_lbl": "Cys3437", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "P", "comment": "Important loss of PRKAR2A-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q70KF4", "url": "https://www.uniprot.org/uniprotkb/Q70KF4" }, { "database": "PubMed", "id": "17499862", "url": "https://glygen.org/publication/PubMed/17499862" } ] } ] } ], "record_id": "Q70KF4-1" }, { "uniprot_canonical_ac": "P31809-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 521, "chemical_mass": 57016.0, "gene_names": "Ceacam1;Bgp1;Bgp;C-CAM;CD66a;Cc1;Cea-1;Cea-7;Cea1;Cea7;Ceacam1;Hv-2;Hv2;MHVR1;MHVR;Mhv-1;bb-1;mCEA1;mmCGM1a;mmCGM1;mmCGM2", "protein_name": "Cell adhesion molecule CEACAM1", "disease": [], "biological_process": [ { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "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": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of fatty acid biosynthetic process", "id": "GO:0045717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045717", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "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": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of endothelial cell differentiation", "id": "GO:0045601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045601", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of granulocyte differentiation", "id": "GO:0030853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030853", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of lipid biosynthetic process", "id": "GO:0051055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051055", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of bone resorption", "id": "GO:0045779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045779", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated cytotoxicity", "id": "GO:0001915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001915", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target", "id": "GO:0002859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002859", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "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": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "common myeloid progenitor cell proliferation", "id": "GO:0035726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035726", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "insulin receptor internalization", "id": "GO:0038016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038016", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor signaling pathway", "id": "GO:0038158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038158", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of cytotoxic T cell degranulation", "id": "GO:0043318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043318", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of blood vessel remodeling", "id": "GO:0060312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060312", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "insulin catabolic process", "id": "GO:1901143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901143", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of homophilic cell adhesion", "id": "GO:1903385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903385", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of sprouting angiogenesis", "id": "GO:1903670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903670", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "positive regulation of homophilic cell adhesion", "id": "GO:1903387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903387", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte proliferation", "id": "GO:2000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000346", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of endothelial cell migration", "id": "GO:0010594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010594", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of platelet aggregation", "id": "GO:0090331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090331", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042058", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "bile acid transmembrane transporter activity", "id": "GO:0015125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015125", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "Toll-like receptor binding", "id": "GO:0035325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035325", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "filamin binding", "id": "GO:0031005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031005", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor receptor binding", "id": "GO:0005130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005130", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31809-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIIYSNGSLLFQMITMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "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" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "11980704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11980704" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Asn148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Asn152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Asn153", "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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=1L6Z&bu=0&command=select+.A:119;+center+selection;+zoom+selection" }, "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "1L6Z|A|119", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Asn199", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 199, "start_aa": "Asn", "end_pos": 199, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn199", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "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": 206, "start_aa": "Asn", "end_pos": 206, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NDTGPYVCETR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "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" } ] }, { "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": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asn226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Asn290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Asn294", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 294, "start_aa": "Asn", "end_pos": 294, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn294", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Asn304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 304, "start_aa": "Asn", "end_pos": 304, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn304", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Asn317", "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": 317, "start_aa": "Asn", "end_pos": 317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn317", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Asn333", "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": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "11980704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11980704" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Asn375", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MTLSQNNSILR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 375, "start_aa": "Asn", "end_pos": 375, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn375", "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" } ] }, { "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": 375, "start_aa": "Asn", "end_pos": 375, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn375", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70619PT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNTTAIDKEIAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3R4D&bu=0&command=select+.C:37;+center+selection;+zoom+selection" }, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "11980704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11980704" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" }, { "id": "3R4D", "database": "PDB", "url": "https://www.rcsb.org/structure/3R4D" }, { "id": "3R4D", "database": "PDB", "url": "https://www.rcsb.org/structure/3R4D" }, { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "3R4D|C|37", "database": "", "url": "" }, { "id": "3R4D|A|37", "database": "", "url": "" }, { "id": "1L6Z|A|37", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46691LC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FVPNSNMNFTGQAYSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3R4D&bu=0&command=select+.C:55;+center+selection;+zoom+selection" }, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "P31809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31809#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "11980704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11980704" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" }, { "id": "3R4D", "database": "PDB", "url": "https://www.rcsb.org/structure/3R4D" }, { "id": "3R4D", "database": "PDB", "url": "https://www.rcsb.org/structure/3R4D" }, { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "1L6Z", "database": "PDB", "url": "https://www.rcsb.org/structure/1L6Z" }, { "id": "6VSJ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VSJ" }, { "id": "6VSJ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VSJ" }, { "id": "3R4D|C|55", "database": "", "url": "" }, { "id": "3R4D|A|55", "database": "", "url": "" }, { "id": "1L6Z|A|55", "database": "", "url": "" }, { "id": "6VSJ|F|89", "database": "", "url": "" }, { "id": "6VSJ|E|89", "database": "", "url": "" }, { "id": "6VSJ|D|89", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->SFT); n-glyco-sequon-gain (NMN->NMS).", "chr_id": "7", "chr_pos": "25175927", "evidence": [ { "id": "rs581135487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581135487" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->TFT); n-glyco-sequon-gain (NMN->NMT).", "chr_id": "7", "chr_pos": "25175927", "evidence": [ { "id": "rs581135487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581135487" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Tyr488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "IntAct", "id": "P31809", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31809*" }, { "database": "iPTMnet", "id": "P31809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31809" }, { "database": "PubMed", "id": "9867848", "url": "https://glygen.org/publication/PubMed/9867848" }, { "database": "PRO", "id": "P31809", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31809" }, { "database": "PubMed", "id": "1648219", "url": "https://glygen.org/publication/PubMed/1648219" }, { "database": "PubMed", "id": "8896983", "url": "https://glygen.org/publication/PubMed/8896983" }, { "database": "PubMed", "id": "9047385", "url": "https://glygen.org/publication/PubMed/9047385" }, { "database": "PubMed", "id": "11694516", "url": "https://glygen.org/publication/PubMed/11694516" }, { "database": "PubMed", "id": "21081647", "url": "https://glygen.org/publication/PubMed/21081647" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Phosphorylated on tyrosine. Abrogates interaction with PTPN11. Abrogates interaction with PTPN11 and phosphorylation; when associated with F-515. Reduces endothelial cell migration and differentiation. Suppresses T cell proliferation; when associated with F-515. Increases cytokine production; when associated with F-515. Activates JNK cascade; when associated with F-515. Abrogates CEACAM1-L phosphorylation in endothelial cells and decreases amounts of released nitric oxide upon VEGF stimulation. Impairs interaction with and inactivation of SYK; when associated with F-515.", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "PubMed", "id": "9867848", "url": "https://glygen.org/publication/PubMed/9867848" }, { "database": "PubMed", "id": "21081647", "url": "https://glygen.org/publication/PubMed/21081647" }, { "database": "PubMed", "id": "22496641", "url": "https://glygen.org/publication/PubMed/22496641" }, { "database": "PubMed", "id": "17081782", "url": "https://glygen.org/publication/PubMed/17081782" }, { "database": "PubMed", "id": "16680193", "url": "https://glygen.org/publication/PubMed/16680193" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces endothelial cell migration and differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "PubMed", "id": "16680193", "url": "https://glygen.org/publication/PubMed/16680193" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Tyr515", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "PRO", "id": "P31809", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31809" }, { "database": "iPTMnet", "id": "P31809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31809" }, { "database": "PubMed", "id": "1648219", "url": "https://glygen.org/publication/PubMed/1648219" }, { "database": "PubMed", "id": "8896983", "url": "https://glygen.org/publication/PubMed/8896983" }, { "database": "PubMed", "id": "9047385", "url": "https://glygen.org/publication/PubMed/9047385" }, { "database": "PubMed", "id": "9867848", "url": "https://glygen.org/publication/PubMed/9867848" }, { "database": "PubMed", "id": "21081647", "url": "https://glygen.org/publication/PubMed/21081647" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Phosphorylated on tyrosine. Abrogates interaction with PTPN11. Abrogates interaction with PTPN11 and phosphorylation; when associated with F-488. Suppresses T cell proliferation; when associated with F-488. Increases cytokine production; when associated with F-488. Activates JNK cascade; when associated with F-488. Abrogates CEACAM1-L phosphorylation in endothelial cells upon VEGF stimulation. Impairs interaction with and inactivation of SYK; when associated with F-488.", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "PubMed", "id": "9867848", "url": "https://glygen.org/publication/PubMed/9867848" }, { "database": "PubMed", "id": "21081647", "url": "https://glygen.org/publication/PubMed/21081647" }, { "database": "PubMed", "id": "22496641", "url": "https://glygen.org/publication/PubMed/22496641" }, { "database": "PubMed", "id": "17081782", "url": "https://glygen.org/publication/PubMed/17081782" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Thr150", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->NIK).", "chr_id": "7", "chr_pos": "25174205", "evidence": [ { "id": "rs238439360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238439360" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Asn177", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIT).", "chr_id": "7", "chr_pos": "25174124", "evidence": [ { "id": "rs224433717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224433717" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "7", "chr_pos": "25174031", "evidence": [ { "id": "rs3545504636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545504636" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "7", "chr_pos": "25173255", "evidence": [ { "id": "rs3545410286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545410286" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Pro59", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "7", "chr_pos": "25176018", "evidence": [ { "id": "rs253713785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253713785" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Thr72", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NPT).", "chr_id": "7", "chr_pos": "25175979", "evidence": [ { "id": "rs579770747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579770747" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Thr73", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "7", "chr_pos": "25175976", "evidence": [ { "id": "rs586894327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586894327" } ] }, { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTM).", "chr_id": "7", "chr_pos": "25175975", "evidence": [ { "id": "rs583516636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583516636" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->NFM).", "chr_id": "7", "chr_pos": "25175921", "evidence": [ { "id": "rs585925681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585925681" } ] } ] }, { "uniprot_canonical_ac": "P31809-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Val518", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Impairs interaction with PTPN11 and PTPN6. Doesn't affect phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P31809", "url": "https://www.uniprot.org/uniprotkb/P31809" }, { "database": "PubMed", "id": "9867848", "url": "https://glygen.org/publication/PubMed/9867848" } ] } ] } ], "record_id": "P31809-1" }, { "uniprot_canonical_ac": "Q1A3B0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 383, "chemical_mass": 46081.0, "gene_names": "Cers3;4930550L11Rik;Cers3;Gm488;Lass3;T3L;mCerS3", "protein_name": "Ceramide synthase 3", "disease": [ { "disease_id": "DOID:0060718", "name": "autosomal recessive congenital ichthyosis 9", "description": "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0060718", "evidence": [ { "id": "0060718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060718" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "sphingosine N-acyltransferase activity", "id": "GO:0050291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050291", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" } ], "biological_process": [ { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" }, { "name": "cornification", "id": "GO:0070268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070268", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q1A3B0", "url": "https://www.uniprot.org/uniprotkb/Q1A3B0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q1A3B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q1A3B0" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ala159", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66433159", "evidence": [ { "id": "rs243284229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243284229" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Pro176", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66434534", "evidence": [ { "id": "rs3388915941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915941" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Phe272", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66439413", "evidence": [ { "id": "rs3388919715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919715" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Arg275", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66439421", "evidence": [ { "id": "rs3388918499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918499" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ile278", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66439431", "evidence": [ { "id": "rs3388890644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388890644" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Glu296", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66445576", "evidence": [ { "id": "rs3388907784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907784" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66445574", "evidence": [ { "id": "rs3388890712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388890712" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Val316", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66445634", "evidence": [ { "id": "rs261231853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261231853" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Lys358", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66471510", "evidence": [ { "id": "rs3388910754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910754" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Lys366", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66471534", "evidence": [ { "id": "rs3388907862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907862" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66413934", "evidence": [ { "id": "rs241226389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241226389" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Asn80", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66423403", "evidence": [ { "id": "rs3388918530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918530" } ] } ] }, { "uniprot_canonical_ac": "Q1A3B0-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Pro94", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66423444", "evidence": [ { "id": "rs3398019161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398019161" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "7", "chr_pos": "66423445", "evidence": [ { "id": "rs3397810402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397810402" } ] } ] } ], "record_id": "Q1A3B0-1" }, { "uniprot_canonical_ac": "Q6ZQ06-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1403, "chemical_mass": 160855.0, "gene_names": "Cep162;4922501C03Rik;Cep162;Kiaa1009;Qn1;mKIAA1009", "protein_name": "Centrosomal protein of 162 kDa", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZQ06-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZQ06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZQ06" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQ06-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZQ06", "url": "https://www.uniprot.org/uniprotkb/Q6ZQ06" } ] } ] } ], "record_id": "Q6ZQ06-1" }, { "uniprot_canonical_ac": "Q8BJ64-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 596, "chemical_mass": 66415.0, "gene_names": "Chdh;Chdh;D630034H06Rik", "protein_name": "Choline dehydrogenase, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "pmid": "" }, { "name": "choline dehydrogenase activity", "id": "GO:0008812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008812", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "pmid": "" } ], "biological_process": [ { "name": "glycine betaine biosynthetic process from choline", "id": "GO:0019285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019285", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ64", "url": "https://www.uniprot.org/uniprotkb/Q8BJ64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BJ64-1" }, { "uniprot_canonical_ac": "Q8R0W1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 432, "chemical_mass": 46320.0, "gene_names": "Cipc;2310044G17Rik;Cipc;Kiaa1737", "protein_name": "CLOCK-interacting pacemaker", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "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": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" }, { "name": "negative regulation of circadian rhythm", "id": "GO:0042754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042754", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0W1-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W1-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0W1", "url": "https://www.uniprot.org/uniprotkb/Q8R0W1" } ] } ] }, { "uniprot_canonical_ac": "Q8R0W1-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "12", "chr_pos": "87008558", "evidence": [ { "id": "rs3389225821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225821" } ] } ] } ], "record_id": "Q8R0W1-1" }, { "uniprot_canonical_ac": "Q9CZH8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZH8", "url": "https://www.uniprot.org/uniprotkb/Q9CZH8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 489, "chemical_mass": 57569.0, "gene_names": "Ccdc77;2400002C23Rik;2700091N06Rik;Ccdc77", "protein_name": "Coiled-coil domain-containing protein 77", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9CZH8", "url": "https://www.uniprot.org/uniprotkb/Q9CZH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZH8-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZH8", "url": "https://www.uniprot.org/uniprotkb/Q9CZH8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZH8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZH8" } ] } ] } ], "record_id": "Q9CZH8-1" }, { "uniprot_canonical_ac": "Q9D5R3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 692, "chemical_mass": 81998.0, "gene_names": "Cep83;2600001G24Rik;4921537D05Rik;5730513H21Rik;Ccdc41;Cep83", "protein_name": "Centrosomal protein of 83 kDa", "disease": [ { "disease_id": "DOID:0111125", "name": "nephronophthisis 18", "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.", "url": "https://disease-ontology.org/term/DOID:0111125", "evidence": [ { "id": "0111125", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111125" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "ciliary transition fiber", "id": "GO:0097539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097539", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" }, { "name": "establishment of centrosome localization", "id": "GO:0051660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051660", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D5R3-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D5R3", "url": "https://www.uniprot.org/uniprotkb/Q9D5R3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D5R3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D5R3" } ] } ] } ], "record_id": "Q9D5R3-1" }, { "uniprot_canonical_ac": "Q9JJV4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 327, "chemical_mass": 36535.0, "gene_names": "Cacng4;Cacng4", "protein_name": "Voltage-dependent calcium channel gamma-4 subunit", "disease": [ { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "L-type voltage-gated calcium channel complex", "id": "GO:1990454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990454", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "channel regulator activity", "id": "GO:0016247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016247", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "positive regulation of AMPA receptor activity", "id": "GO:2000969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000969", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "regulation of AMPA receptor activity", "id": "GO:2000311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000311", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" }, { "name": "postsynaptic neurotransmitter receptor diffusion trapping", "id": "GO:0098970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098970", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJV4-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "Q9JJV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JJV4-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "Q9JJV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JJV4-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV4", "url": "https://www.uniprot.org/uniprotkb/Q9JJV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJV4" } ] } ] } ], "record_id": "Q9JJV4-1" }, { "uniprot_canonical_ac": "Q9JJV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35516.0, "gene_names": "Cacng3;Cacng3", "protein_name": "Voltage-dependent calcium channel gamma-3 subunit", "disease": [ { "disease_id": "DOID:1825", "name": "childhood absence epilepsy", "description": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.", "url": "https://disease-ontology.org/term/DOID:1825", "evidence": [ { "id": "1825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1825" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "positive regulation of AMPA receptor activity", "id": "GO:2000969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000969", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "regulation of AMPA receptor activity", "id": "GO:2000311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000311", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "postsynaptic neurotransmitter receptor diffusion trapping", "id": "GO:0098970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098970", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "channel regulator activity", "id": "GO:0016247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016247", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJV5-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Thr260", "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": 260, "start_aa": "Thr", "end_pos": 260, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr260", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9JJV5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JJV5" } ] } ] }, { "uniprot_canonical_ac": "Q9JJV5-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV5", "url": "https://www.uniprot.org/uniprotkb/Q9JJV5" }, { "database": "PRO", "id": "Q9JJV5", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9JJV5" }, { "database": "iPTMnet", "id": "Q9JJV5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJV5" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] } ], "record_id": "Q9JJV5-1" }, { "uniprot_canonical_ac": "Q7TSH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1004, "chemical_mass": 111139.0, "gene_names": "Ccp110;6330503K22Rik;CP110;Ccp110;Cep110;Cp110;Kiaa0419;cep110", "protein_name": "Centriolar coiled-coil protein of 110 kDa", "disease": [], "biological_process": [ { "name": "negative regulation of cilium assembly", "id": "GO:1902018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902018", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "ciliary basal body organization", "id": "GO:0032053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032053", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Asn255", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RSVNETHSDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 255, "start_aa": "Asn", "end_pos": 255, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn255", "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": "Q7TSH4-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Asn470", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40574BA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSQRQQALGAHLGNNVTVERSAMEGPFIADDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 470, "start_aa": "Asn", "end_pos": 470, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn470", "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": "Q7TSH4-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ] } ] }, { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TSH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TSH4" } ] } ] }, { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ] } ] }, { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Ser398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TSH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TSH4" } ] } ] }, { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSH4", "url": "https://www.uniprot.org/uniprotkb/Q7TSH4" } ] } ] }, { "uniprot_canonical_ac": "Q7TSH4-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "7", "chr_pos": "118321449", "evidence": [ { "id": "rs3388899023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899023" } ] } ] } ], "record_id": "Q7TSH4-1" }, { "uniprot_canonical_ac": "P23242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 382, "chemical_mass": 43004.0, "gene_names": "Gja1;Cnx43;Cx43alpha1;Cx43;Cxn-43;Cxnk1;Gja-1;Gja1;Npm1;connexin43", "protein_name": "Gap junction alpha-1 protein", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0050467", "name": "erythrokeratodermia variabilis", "description": "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.", "url": "https://disease-ontology.org/term/DOID:0050467", "evidence": [ { "id": "0050467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050467" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060291", "name": "oculodentodigital dysplasia", "description": "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.", "url": "https://disease-ontology.org/term/DOID:0060291", "evidence": [ { "id": "0060291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060291" } ], "weight": 0.0 }, { "disease_id": "DOID:0070355", "name": "overactive bladder syndrome", "description": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.", "url": "https://disease-ontology.org/term/DOID:0070355", "evidence": [ { "id": "0070355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070355" } ], "weight": 0.0 }, { "disease_id": "DOID:0080249", "name": "erythrokeratodermia variabilis et progressiva 3", "description": "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.", "url": "https://disease-ontology.org/term/DOID:0080249", "evidence": [ { "id": "0080249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080249" } ], "weight": 0.0 }, { "disease_id": "DOID:0080802", "name": "autosomal recessive craniometaphyseal dysplasia", "description": "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.", "url": "https://disease-ontology.org/term/DOID:0080802", "evidence": [ { "id": "0080802", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080802" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0111244", "name": "palmoplantar keratoderma and congenital alopecia 1", "description": "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.", "url": "https://disease-ontology.org/term/DOID:0111244", "evidence": [ { "id": "0111244", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111244" } ], "weight": 0.0 }, { "disease_id": "DOID:0111817", "name": "syndactyly type 3", "description": "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.", "url": "https://disease-ontology.org/term/DOID:0111817", "evidence": [ { "id": "0111817", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111817" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:12577", "name": "urethral obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:12577", "evidence": [ { "id": "12577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12577" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "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: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:3390", "name": "palmoplantar keratosis", "description": "A keratosis characterized by abnormal thickening of the palms and the soles.", "url": "https://disease-ontology.org/term/DOID:3390", "evidence": [ { "id": "3390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3390" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "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:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "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": "DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.", "url": "https://disease-ontology.org/term/DOID:9955", "evidence": [ { "id": "9955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9955" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane depolarization", "id": "GO:0060373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060373", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of meiotic nuclear division", "id": "GO:0045836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045836", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of stem cell proliferation", "id": "GO:2000648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "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": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of DNA biosynthetic process", "id": "GO:2000279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000279", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane repolarization", "id": "GO:0060307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060307", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cardiac conduction", "id": "GO:0061337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061337", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "glutamate secretion", "id": "GO:0014047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014047", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of trophoblast cell migration", "id": "GO:1901164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901164", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cellular response to pH", "id": "GO:0071467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "establishment of epithelial cell polarity", "id": "GO:0090162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090162", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of cell communication by electrical coupling", "id": "GO:0010649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010649", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "chronic inflammatory response", "id": "GO:0002544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002544", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of blood vessel remodeling", "id": "GO:0060312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060312", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell proliferation", "id": "GO:0060044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060044", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "atrial ventricular junction remodeling", "id": "GO:0003294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003294", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell communication by chemical coupling", "id": "GO:0010643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010643", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of cell communication by chemical coupling", "id": "GO:0010652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010652", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of glomerular filtration", "id": "GO:0003104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003104", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "vascular transport", "id": "GO:0010232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010232", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "epithelial cell maturation", "id": "GO:0002070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002070", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane depolarization", "id": "GO:0060371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060371", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "epicardial cell to mesenchymal cell transition", "id": "GO:0003347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003347", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "milk ejection reflex", "id": "GO:0060156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060156", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell communication by electrical coupling", "id": "GO:0010644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010644", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "negative regulation of gonadotropin secretion", "id": "GO:0032277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032277", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of bicellular tight junction assembly", "id": "GO:2000810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000810", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of actin filament organization", "id": "GO:0110053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110053", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "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": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "regulation of bone remodeling", "id": "GO:0046850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046850", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of striated muscle tissue development", "id": "GO:0045844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045844", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "maintenance of protein localization in endoplasmic reticulum", "id": "GO:0035437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035437", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of morphogenesis of an epithelium", "id": "GO:1905332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905332", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of mesodermal cell differentiation", "id": "GO:1905772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905772", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "positive regulation of establishment of Sertoli cell barrier", "id": "GO:1904446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904446", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "microtubule-based transport", "id": "GO:0099111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099111", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" } ], "molecular_function": [ { "name": "connexin binding", "id": "GO:0071253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071253", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "gap junction hemi-channel activity", "id": "GO:0055077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055077", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "gap junction channel activity involved in cardiac conduction electrical coupling", "id": "GO:0086075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086075", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transporter activity", "id": "GO:0015075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015075", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "gap junction channel activity involved in cell communication by electrical coupling", "id": "GO:1903763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903763", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "glutathione transmembrane transporter activity", "id": "GO:0034634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034634", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "fascia adherens", "id": "GO:0005916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005916", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "cell-cell contact zone", "id": "GO:0044291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044291", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" }, { "name": "connexin complex", "id": "GO:0005922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005922", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23242-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asn312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QASEQNWANYSAEQNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 312, "start_aa": "Asn", "end_pos": 312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn312", "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": "P23242-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Tyr247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "22049024", "url": "https://glygen.org/publication/PubMed/22049024" }, { "database": "PubMed", "id": "23596417", "url": "https://glygen.org/publication/PubMed/23596417" }, { "database": "PubMed", "id": "29578247", "url": "https://glygen.org/publication/PubMed/29578247" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" }, { "database": "PubMed", "id": "9472011", "url": "https://glygen.org/publication/PubMed/9472011" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "22049024", "url": "https://glygen.org/publication/PubMed/22049024" }, { "database": "PubMed", "id": "24492000", "url": "https://glygen.org/publication/PubMed/24492000" }, { "database": "PubMed", "id": "27034963", "url": "https://glygen.org/publication/PubMed/27034963" }, { "database": "PubMed", "id": "28202692", "url": "https://glygen.org/publication/PubMed/28202692" }, { "database": "PubMed", "id": "29578247", "url": "https://glygen.org/publication/PubMed/29578247" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Tyr265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "12209934", "url": "https://glygen.org/publication/PubMed/12209934" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Thr275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ser279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PRO", "id": "P23242", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "23261543", "url": "https://glygen.org/publication/PubMed/23261543" }, { "database": "PubMed", "id": "22729691", "url": "https://glygen.org/publication/PubMed/22729691" }, { "database": "PubMed", "id": "24492000", "url": "https://glygen.org/publication/PubMed/24492000" }, { "database": "PubMed", "id": "25952543", "url": "https://glygen.org/publication/PubMed/25952543" }, { "database": "PubMed", "id": "29578247", "url": "https://glygen.org/publication/PubMed/29578247" }, { "database": "PubMed", "id": "32739526", "url": "https://glygen.org/publication/PubMed/32739526" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PRO", "id": "P23242", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "23261543", "url": "https://glygen.org/publication/PubMed/23261543" }, { "database": "PubMed", "id": "22729691", "url": "https://glygen.org/publication/PubMed/22729691" }, { "database": "PubMed", "id": "24492000", "url": "https://glygen.org/publication/PubMed/24492000" }, { "database": "PubMed", "id": "25952543", "url": "https://glygen.org/publication/PubMed/25952543" }, { "database": "PubMed", "id": "29578247", "url": "https://glygen.org/publication/PubMed/29578247" }, { "database": "PubMed", "id": "32739526", "url": "https://glygen.org/publication/PubMed/32739526" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Thr326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "29269353", "url": "https://glygen.org/publication/PubMed/29269353" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "17765619", "url": "https://glygen.org/publication/PubMed/17765619" }, { "database": "PubMed", "id": "20016202", "url": "https://glygen.org/publication/PubMed/20016202" }, { "database": "PubMed", "id": "21753195", "url": "https://glygen.org/publication/PubMed/21753195" }, { "database": "PubMed", "id": "22049024", "url": "https://glygen.org/publication/PubMed/22049024" }, { "database": "PubMed", "id": "23587598", "url": "https://glygen.org/publication/PubMed/23587598" }, { "database": "PubMed", "id": "24492000", "url": "https://glygen.org/publication/PubMed/24492000" }, { "database": "PubMed", "id": "24498049", "url": "https://glygen.org/publication/PubMed/24498049" }, { "database": "PubMed", "id": "27034963", "url": "https://glygen.org/publication/PubMed/27034963" }, { "database": "PubMed", "id": "27097562", "url": "https://glygen.org/publication/PubMed/27097562" }, { "database": "PubMed", "id": "28202692", "url": "https://glygen.org/publication/PubMed/28202692" }, { "database": "PubMed", "id": "29019935", "url": "https://glygen.org/publication/PubMed/29019935" }, { "database": "PubMed", "id": "29462621", "url": "https://glygen.org/publication/PubMed/29462621" }, { "database": "PubMed", "id": "29518932", "url": "https://glygen.org/publication/PubMed/29518932" }, { "database": "PubMed", "id": "29578247", "url": "https://glygen.org/publication/PubMed/29578247" }, { "database": "PubMed", "id": "31422747", "url": "https://glygen.org/publication/PubMed/31422747" }, { "database": "PubMed", "id": "32464326", "url": "https://glygen.org/publication/PubMed/32464326" }, { "database": "PubMed", "id": "32739526", "url": "https://glygen.org/publication/PubMed/32739526" }, { "database": "PubMed", "id": "33142723", "url": "https://glygen.org/publication/PubMed/33142723" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" }, { "database": "PubMed", "id": "35701117", "url": "https://glygen.org/publication/PubMed/35701117" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "26403541", "url": "https://glygen.org/publication/PubMed/26403541" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" }, { "database": "iPTMnet", "id": "P23242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23242" }, { "database": "PubMed", "id": "27281705", "url": "https://glygen.org/publication/PubMed/27281705" }, { "database": "PubMed", "id": "33751227", "url": "https://glygen.org/publication/PubMed/33751227" } ] } ] }, { "uniprot_canonical_ac": "P23242-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23242", "url": "https://www.uniprot.org/uniprotkb/P23242" } ] } ] } ], "record_id": "P23242-1" }, { "uniprot_canonical_ac": "P58466-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 261, "chemical_mass": 29266.0, "gene_names": "Ctdsp1;Ctdsp1;GIP;NLIIF;Nif3;Nliif;SCP1", "protein_name": "Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" } ], "biological_process": [ { "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": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" }, { "name": "RNA polymerase II CTD heptapeptide repeat phosphatase activity", "id": "GO:0008420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008420", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58466-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asp96", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Leads to enhanced neuronal differentiation of stem cells; when associated with N-98.", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" }, { "database": "PubMed", "id": "15681389", "url": "https://glygen.org/publication/PubMed/15681389" } ] } ] }, { "uniprot_canonical_ac": "P58466-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asp98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Leads to enhanced neuronal differentiation of stem cells; when associated with E-96.", "evidence": [ { "database": "UniProtKB", "id": "P58466", "url": "https://www.uniprot.org/uniprotkb/P58466" }, { "database": "PubMed", "id": "15681389", "url": "https://glygen.org/publication/PubMed/15681389" } ] } ] } ], "record_id": "P58466-1" }, { "uniprot_canonical_ac": "O88712-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 441, "chemical_mass": 47745.0, "gene_names": "Ctbp1;BARS;CtBP3/BARS;Ctbp1;D4S115h;D5H4S115E;D5H4S115", "protein_name": "C-terminal-binding protein 1", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "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": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic endocytic zone membrane", "id": "GO:0098894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098894", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "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": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "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": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "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": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "presynapse to nucleus signaling pathway", "id": "GO:0099526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099526", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88712-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "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": 364, "start_aa": "Ser", "end_pos": 364, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser364", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O88712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O88712" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "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": 380, "start_aa": "Ser", "end_pos": 380, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser380", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O88712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O88712" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "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": 388, "start_aa": "Ser", "end_pos": 388, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser388", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O88712", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O88712" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Thr392", "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": 392, "start_aa": "Thr", "end_pos": 392, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr392", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O88712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O88712" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "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": 404, "start_aa": "Ser", "end_pos": 404, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser404", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O88712", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O88712" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "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": 409, "start_aa": "Ser", "end_pos": 409, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser409", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "O88712", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O88712" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88712", "url": "https://www.uniprot.org/uniprotkb/O88712" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDC->NDC).", "chr_id": "5", "chr_pos": "33408275", "evidence": [ { "id": "rs3388747467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747467" } ] } ] }, { "uniprot_canonical_ac": "O88712-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Phe250", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDF->NDC).", "chr_id": "5", "chr_pos": "33408215", "evidence": [ { "id": "rs3395391404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395391404" } ] } ] } ], "record_id": "O88712-1" }, { "uniprot_canonical_ac": "P56546-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 445, "chemical_mass": 48957.0, "gene_names": "Ctbp2;Ctbp2;D7Ertd45e;Gtrgeo6;Ribeye", "protein_name": "C-terminal-binding protein 2", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "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": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "ribbon synapse", "id": "GO:0097470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097470", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of presynaptic active zone", "id": "GO:0098882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098882", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "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": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "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": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "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": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "positive regulation of retinoic acid receptor signaling pathway", "id": "GO:0048386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048386", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56546-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Thr414", "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": 414, "start_aa": "Thr", "end_pos": 414, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr414", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "P56546", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P56546" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P56546-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Ser428", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56546", "url": "https://www.uniprot.org/uniprotkb/P56546" } ] } ] } ], "record_id": "P56546-1" }, { "uniprot_canonical_ac": "Q61462-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 192, "chemical_mass": 20748.0, "gene_names": "Cyba;Cyba;b558;nmf333;p22-phox;p22phox", "protein_name": "Cytochrome b-245 light chain", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0070193", "name": "autosomal recessive chronic granulomatous disease 4", "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.", "url": "https://disease-ontology.org/term/DOID:0070193", "evidence": [ { "id": "0070193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070193" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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: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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3262", "name": "phagocyte bactericidal dysfunction", "description": "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.", "url": "https://disease-ontology.org/term/DOID:3262", "evidence": [ { "id": "3262", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3262" } ], "weight": 0.0 }, { "disease_id": "DOID:3265", "name": "chronic granulomatous disease", "description": "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.", "url": "https://disease-ontology.org/term/DOID:3265", "evidence": [ { "id": "3265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3265" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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: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": "NADPH oxidase complex", "id": "GO:0043020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043020", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of NAD(P)H oxidase activity", "id": "GO:0033864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033864", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "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": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "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": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "negative regulation of glomerular filtration by angiotensin", "id": "GO:0003106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003106", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "smooth muscle hypertrophy", "id": "GO:0014895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014895", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cytochrome complex assembly", "id": "GO:0017004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017004", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 2 signaling pathway", "id": "GO:0034137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034137", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cellular response to L-glutamine", "id": "GO:1904845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904845", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "cellular response to phorbol 13-acetate 12-myristate", "id": "GO:1904628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904628", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "respiratory burst", "id": "GO:0045730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045730", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" }, { "name": "superoxide-generating NAD(P)H oxidase activity", "id": "GO:0016175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016175", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61462-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" }, { "database": "iPTMnet", "id": "Q61462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61462" }, { "database": "PubMed", "id": "35051590", "url": "https://glygen.org/publication/PubMed/35051590" } ] } ] }, { "uniprot_canonical_ac": "Q61462-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61462" } ] } ] }, { "uniprot_canonical_ac": "Q61462-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61462", "url": "https://www.uniprot.org/uniprotkb/Q61462" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61462" } ] } ] } ], "record_id": "Q61462-1" }, { "uniprot_canonical_ac": "Q62018-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1173, "chemical_mass": 133408.0, "gene_names": "Ctr9;Ctr9;Kiaa0155;Sh2bp1;Tsbp;Tsp;mKIAA0155", "protein_name": "RNA polymerase-associated protein CTR9 homolog", "disease": [], "biological_process": [ { "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": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "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": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "inner cell mass cell differentiation", "id": "GO:0001826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001826", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "blastocyst growth", "id": "GO:0001832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001832", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "endodermal cell fate commitment", "id": "GO:0001711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001711", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "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": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "Cdc73/Paf1 complex", "id": "GO:0016593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016593", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1020", "end_pos": "1020", "site_lbl": "Ser1020", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1021", "end_pos": "1021", "site_lbl": "Ser1021", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1037", "end_pos": "1037", "site_lbl": "Ser1037", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1039", "end_pos": "1039", "site_lbl": "Ser1039", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1041", "end_pos": "1041", "site_lbl": "Ser1041", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1079", "end_pos": "1079", "site_lbl": "Ser1079", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1085", "end_pos": "1085", "site_lbl": "Ser1085", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1095", "end_pos": "1095", "site_lbl": "Ser1095", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Ser1100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "925", "end_pos": "925", "site_lbl": "Thr925", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Ser932", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Ser941", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Ser943", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" } ] } ] }, { "uniprot_canonical_ac": "Q62018-1", "start_pos": "970", "end_pos": "970", "site_lbl": "Ser970", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62018", "url": "https://www.uniprot.org/uniprotkb/Q62018" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62018", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62018" } ] } ] } ], "record_id": "Q62018-1" }, { "uniprot_canonical_ac": "Q8CJ40-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2009, "chemical_mass": 226945.0, "gene_names": "Crocc;Crocc;Kiaa0445", "protein_name": "Rootletin", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "subapical part of cell", "id": "GO:0120219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120219", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" } ], "biological_process": [ { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "establishment of organelle localization", "id": "GO:0051656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051656", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cilium", "id": "GO:1903566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903566", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "centriole-centriole cohesion", "id": "GO:0010457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010457", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" }, { "name": "ciliary basal body organization", "id": "GO:0032053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032053", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Asn60", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVIASNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "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": "Q8CJ40-1", "start_pos": "1453", "end_pos": "1453", "site_lbl": "Ser1453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1463", "end_pos": "1463", "site_lbl": "Ser1463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1469", "end_pos": "1469", "site_lbl": "Ser1469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1475", "end_pos": "1475", "site_lbl": "Tyr1475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1476", "end_pos": "1476", "site_lbl": "Ser1476", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1479", "end_pos": "1479", "site_lbl": "Ser1479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1483", "end_pos": "1483", "site_lbl": "Ser1483", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Ser1489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ40-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Ser1568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ40", "url": "https://www.uniprot.org/uniprotkb/Q8CJ40" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CJ40", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CJ40" } ] } ] } ], "record_id": "Q8CJ40-1" }, { "uniprot_canonical_ac": "Q9CQX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 16318.0, "gene_names": "Cyb5b;1810044O22Rik;Cyb5b;Cyb5m", "protein_name": "Cytochrome b5 type B", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "nitric-oxide synthase complex", "id": "GO:1903958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903958", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" }, { "name": "nitrite reductase (NO-forming) activity", "id": "GO:0050421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050421", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" } ], "biological_process": [ { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQX2-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" } ] } ] }, { "uniprot_canonical_ac": "Q9CQX2-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQX2" } ] } ] }, { "uniprot_canonical_ac": "Q9CQX2-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQX2", "url": "https://www.uniprot.org/uniprotkb/Q9CQX2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQX2" } ] } ] } ], "record_id": "Q9CQX2-1" }, { "uniprot_canonical_ac": "Q9Z140-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 557, "chemical_mass": 61781.0, "gene_names": "Cpne6;Cpne6", "protein_name": "Copine-6", "disease": [], "biological_process": [ { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045334", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Thr548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 548, "start_aa": "Thr", "end_pos": 548, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr548", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9Z140", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9Z140" }, { "database": "iPTMnet", "id": "Q9Z140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z140" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Lys434", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "14", "chr_pos": "55753986", "evidence": [ { "id": "rs3389336622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389336622" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asp167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Inhibits strongly calcium-dependent translocation to the cell membrane. Inhibits strongly calcium-dependent translocation to the cell membrane; when associated with N-173. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-173; N-229 and N-231.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asp173", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Inhibits strongly calcium-dependent translocation to the cell membrane. Inhibits strongly calcium-dependent translocation to the cell membrane; when associated with N-167. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-167; N-229 and N-231.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Asp229", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Inhibits strongly calcium-dependent translocation to the cell membrane; when associated with N-231. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-167; N-173 and N-231.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Asp231", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane. Inhibits strongly calcium-dependent translocation to the cell membrane; when associated with N-229. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-167; N-173 and N-229.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Lys272", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with A-273 and A-274.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Lys273", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with A-272 and A-274.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Lys274", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with A-272 and A-273.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Val282", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane. Inhibits calcium-dependent translocation to the cell membrane; when associated with G-283 and G-284.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] }, { "sequence_org": "V", "sequence_mut": "S", "comment": "Inhibits calcium-dependent translocation to the cell membrane; when associated with S-283 and S-284.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Val283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane. Inhibits calcium-dependent translocation to the cell membrane; when associated with G-282 and G-284.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] }, { "sequence_org": "V", "sequence_mut": "S", "comment": "Inhibits calcium-dependent translocation to the cell membrane; when associated with S-282 and S-284.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Leu284", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "G", "comment": "Inhibits partially calcium-dependent translocation to the cell membrane. Inhibits calcium-dependent translocation to the cell membrane; when associated with G-282 and G-283.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] }, { "sequence_org": "L", "sequence_mut": "S", "comment": "Inhibits calcium-dependent translocation to the cell membrane; when associated with S-282 and S-283.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Gln286", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with G-287 and G-288.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Cys287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with G-286 and G-288.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Thr288", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with G-286 and G-287.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Asp33", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with N-35; N-93 and N-96.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asp35", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with N-33; N-93 and N-96.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asp93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with N-33; N-35 and N-96.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "Q9Z140-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asp96", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane; when associated with N-33; N-35 and N-93.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z140", "url": "https://www.uniprot.org/uniprotkb/Q9Z140" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] } ], "record_id": "Q9Z140-1" }, { "uniprot_canonical_ac": "Q9JHS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 26624.0, "gene_names": "Cwc15;0610040D20Rik;2900052N06Rik;Cwc15;Ed1;c11orf5;mED1", "protein_name": "Spliceosome-associated protein CWC15 homolog", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" }, { "name": "mRNA cis splicing, via spliceosome", "id": "GO:0045292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045292", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JHS9-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Thr110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHS9" } ] } ] }, { "uniprot_canonical_ac": "Q9JHS9-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ] } ] }, { "uniprot_canonical_ac": "Q9JHS9-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Thr47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS9", "url": "https://www.uniprot.org/uniprotkb/Q9JHS9" } ] } ] } ], "record_id": "Q9JHS9-1" }, { "uniprot_canonical_ac": "O88327-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 731, "chemical_mass": 81462.0, "gene_names": "Ctnnal1;ACRP;Catnal1;Ctnnal1", "protein_name": "Alpha-catulin", "disease": [ { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88327-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88327" } ] } ] }, { "uniprot_canonical_ac": "O88327-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88327", "url": "https://www.uniprot.org/uniprotkb/O88327" } ] } ] } ], "record_id": "O88327-1" }, { "uniprot_canonical_ac": "P26231-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 906, "chemical_mass": 100106.0, "gene_names": "Ctnna1;2010010M04Rik;Catna1;Ctnna1", "protein_name": "Catenin alpha-1", "disease": [ { "disease_id": "DOID:0060864", "name": "patterned macular dystrophy 2", "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0060864", "evidence": [ { "id": "0060864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060864" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "apical junction assembly", "id": "GO:0043297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043297", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of cell motility", "id": "GO:2000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000146", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "negative regulation of integrin-mediated signaling pathway", "id": "GO:2001045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001045", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cellular response to indole-3-methanol", "id": "GO:0071681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071681", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "gap junction assembly", "id": "GO:0016264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016264", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "flotillin complex", "id": "GO:0016600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016600", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "zonula adherens", "id": "GO:0005915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005915", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "gamma-catenin binding", "id": "GO:0045295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045295", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" }, { "name": "vinculin binding", "id": "GO:0017166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017166", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26231-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Thr634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Ser641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on cell aggregation or E-cadherin/catenin complex assembly. Decreases strength of cell-cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "25653389", "url": "https://glygen.org/publication/PubMed/25653389" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "No effect on cell aggregation or E-cadherin/catenin complex assembly. Increases strength of cell-cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "25653389", "url": "https://glygen.org/publication/PubMed/25653389" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Thr645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Thr658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26231", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Ser851", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" } ] } ] }, { "uniprot_canonical_ac": "P26231-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Leu436", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Mice bearing this mutation exhibit several retinal pigment epithelium (RPE) anomalies, including pigmentary abnormalities, focal thickening, elevated lesions, and decreased light-activated responses. Mutant animals show dysmorphology in the form of RPE cell shedding and accumulation of large multinucleated RPE cells.", "evidence": [ { "database": "UniProtKB", "id": "P26231", "url": "https://www.uniprot.org/uniprotkb/P26231" }, { "database": "PubMed", "id": "26691986", "url": "https://glygen.org/publication/PubMed/26691986" } ] } ] } ], "record_id": "P26231-1" }, { "uniprot_canonical_ac": "Q61301-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 953, "chemical_mass": 105286.0, "gene_names": "Ctnna2;Catna2;Catna;Ctnna2;cdf;chp", "protein_name": "Catenin alpha-2", "disease": [ { "disease_id": "DOID:0061138", "name": "complex cortical dysplasia with other brain malformations 9", "description": "A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.", "url": "https://disease-ontology.org/term/DOID:0061138", "evidence": [ { "id": "0061138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061138" } ], "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 } ], "biological_process": [ { "name": "modification of postsynaptic actin cytoskeleton", "id": "GO:0098885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098885", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "radial glia guided migration of Purkinje cell", "id": "GO:0021942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021942", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "regulation of synapse structural plasticity", "id": "GO:0051823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051823", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "regulation of neuron migration", "id": "GO:2001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "negative regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034316", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic membrane", "id": "GO:0098888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098888", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "extrinsic component of postsynaptic membrane", "id": "GO:0098890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098890", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61301-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Asn40", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLEPLVTQVTTLVNTSNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 40, "start_aa": "Asn", "end_pos": 40, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn40", "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": "Q61301-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Thr632", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61301", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61301" } ] } ] }, { "uniprot_canonical_ac": "Q61301-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Ser640", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q61301", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61301" } ] } ] }, { "uniprot_canonical_ac": "Q61301-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61301", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61301" } ] } ] }, { "uniprot_canonical_ac": "Q61301-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q61301", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61301" } ] } ] }, { "uniprot_canonical_ac": "Q61301-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Ser939", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61301", "url": "https://www.uniprot.org/uniprotkb/Q61301" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61301", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61301" } ] } ] }, { "uniprot_canonical_ac": "Q61301-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Asp611", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "6", "chr_pos": "76931768", "evidence": [ { "id": "rs3388820114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388820114" } ] } ] } ], "record_id": "Q61301-1" }, { "uniprot_canonical_ac": "Q65CL1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 895, "chemical_mass": 99803.0, "gene_names": "Ctnna3;4930429L08Rik;4933408A16;Catna3;Ctnna3;Vr22", "protein_name": "Catenin alpha-3", "disease": [ { "disease_id": "DOID:0080171", "name": "esophageal atresia/tracheoesophageal fistula", "description": "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.", "url": "https://disease-ontology.org/term/DOID:0080171", "evidence": [ { "id": "0080171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080171" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.", "url": "https://disease-ontology.org/term/DOID:0080820", "evidence": [ { "id": "0080820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ], "weight": 0.0 }, { "disease_id": "DOID:0110084", "name": "arrhythmogenic right ventricular dysplasia 13", "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0110084", "evidence": [ { "id": "0110084", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110084" } ], "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 } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "fascia adherens", "id": "GO:0005916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005916", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell action potential", "id": "GO:0098911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098911", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "bundle of His cell-Purkinje myocyte adhesion involved in cell communication", "id": "GO:0086073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086073", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Asn365", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNTLNTAIVNMSKKTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "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": "Q65CL1-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Thr719", "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": 719, "start_aa": "Thr", "end_pos": 719, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr719", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q65CL1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q65CL1" } ] } ] }, { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q65CL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q65CL1" } ] } ] }, { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Thr361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q65CL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q65CL1" } ] } ] }, { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q65CL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q65CL1" } ] } ] }, { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Ser647", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q65CL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q65CL1" } ] } ] }, { "uniprot_canonical_ac": "Q65CL1-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Thr649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q65CL1", "url": "https://www.uniprot.org/uniprotkb/Q65CL1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q65CL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q65CL1" } ] } ] } ], "record_id": "Q65CL1-1" }, { "uniprot_canonical_ac": "Q8C5N3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 908, "chemical_mass": 104773.0, "gene_names": "Cwc22;B230213M24;Cwc22;Ncm;mKIAA1604", "protein_name": "Pre-mRNA-splicing factor CWC22 homolog", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C5N3-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" }, { "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": "Q8C5N3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C5N3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5N3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5N3-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5N3-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Ser829", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5N3", "url": "https://www.uniprot.org/uniprotkb/Q8C5N3" } ] } ] } ], "record_id": "Q8C5N3-1" }, { "uniprot_canonical_ac": "Q3U3E2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 584, "chemical_mass": 61345.0, "gene_names": "Fam117b;2810425F24Rik;6330416D14Rik;Als2cr13;Fam117b", "protein_name": "Protein FAM117B", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 12, "start_aa": "Thr", "end_pos": 12, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr12", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Thr200", "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": 200, "start_aa": "Thr", "end_pos": 200, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr200", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3U3E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U3E2" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q3U3E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "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": 204, "start_aa": "Ser", "end_pos": 204, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser204", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3U3E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "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": 205, "start_aa": "Ser", "end_pos": 205, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser205", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3U3E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U3E2" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q3U3E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U3E2" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Asn456", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PNNSYMFKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 456, "start_aa": "Asn", "end_pos": 456, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn456", "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": "Q3U3E2-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "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": 51, "start_aa": "Ser", "end_pos": 51, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser51", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3U3E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "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": 546, "start_aa": "Ser", "end_pos": 546, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser546", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3U3E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U3E2" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "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": 84, "start_aa": "Ser", "end_pos": 84, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser84", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q3U3E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U3E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U3E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U3E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U3E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U3E2" } ] } ] }, { "uniprot_canonical_ac": "Q3U3E2-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ser452", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U3E2", "url": "https://www.uniprot.org/uniprotkb/Q3U3E2" } ] } ] } ], "record_id": "Q3U3E2-1" }, { "uniprot_canonical_ac": "Q3U2I3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 975, "chemical_mass": 106541.0, "gene_names": "Fhip1b;4632419K20Rik;6530415H11Rik;FHIP;Fam160a2;Fhip1b;Kiaa1759", "protein_name": "FHF complex subunit HOOK-interacting protein 1B", "disease": [], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" }, { "name": "protein localization to perinuclear region of cytoplasm", "id": "GO:1905719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905719", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" } ], "cellular_component": [ { "name": "FHF complex", "id": "GO:0070695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070695", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Thr498", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 498, "start_aa": "Thr", "end_pos": 498, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr498", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Thr626", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 626, "start_aa": "Thr", "end_pos": 626, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr626", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Thr845", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 845, "start_aa": "Thr", "end_pos": 845, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr845", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" }, { "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": "Q3U2I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q3U2I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ser529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ser533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ser863", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Thr892", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" } ] } ] }, { "uniprot_canonical_ac": "Q3U2I3-1", "start_pos": "900", "end_pos": "900", "site_lbl": "Ser900", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U2I3", "url": "https://www.uniprot.org/uniprotkb/Q3U2I3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U2I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U2I3" } ] } ] } ], "record_id": "Q3U2I3-1" }, { "uniprot_canonical_ac": "Q9D952-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2035, "chemical_mass": 232012.0, "gene_names": "Evpl;Evpl", "protein_name": "Envoplakin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" } ], "biological_process": [ { "name": "keratinization", "id": "GO:0031424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031424", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" }, { "name": "regulation of antibacterial peptide production", "id": "GO:0002786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002786", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D952-1", "start_pos": "1576", "end_pos": "1576", "site_lbl": "Ser1576", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D952", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D952" } ] } ] }, { "uniprot_canonical_ac": "Q9D952-1", "start_pos": "1800", "end_pos": "1800", "site_lbl": "Ser1800", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ] } ] }, { "uniprot_canonical_ac": "Q9D952-1", "start_pos": "2026", "end_pos": "2026", "site_lbl": "Ser2026", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D952", "url": "https://www.uniprot.org/uniprotkb/Q9D952" } ] } ] } ], "record_id": "Q9D952-1" }, { "uniprot_canonical_ac": "Q9DCM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 27739.0, "gene_names": "Ethe1;0610025L15Rik;Ethe1;Hsco", "protein_name": "Persulfide dioxygenase ETHE1, mitochondrial", "disease": [ { "disease_id": "DOID:0060640", "name": "ethylmalonic encephalopathy", "description": "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0060640", "evidence": [ { "id": "0060640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060640" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "sulfur dioxygenase activity", "id": "GO:0050313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050313", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" } ], "biological_process": [ { "name": "hydrogen sulfide metabolic process", "id": "GO:0070813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070813", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCM0-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCM0" } ] } ] }, { "uniprot_canonical_ac": "Q9DCM0-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DCM0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DCM0" } ] } ] }, { "uniprot_canonical_ac": "Q9DCM0-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM0", "url": "https://www.uniprot.org/uniprotkb/Q9DCM0" } ] } ] } ], "record_id": "Q9DCM0-1" }, { "uniprot_canonical_ac": "Q9WUA5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 330, "chemical_mass": 36958.0, "gene_names": "Epm2a;Epm2a;TG-B;TcrbK)TG-BFlv;Tg(TcraK", "protein_name": "Laforin", "disease": [ { "disease_id": "DOID:0070660", "name": "Lafora disease 1", "description": "A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.", "url": "https://disease-ontology.org/term/DOID:0070660", "evidence": [ { "id": "0070660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070660" } ], "weight": 0.0 }, { "disease_id": "DOID:3534", "name": "Lafora disease", "description": "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.", "url": "https://disease-ontology.org/term/DOID:3534", "evidence": [ { "id": "3534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3534" } ], "weight": 0.0 }, { "disease_id": "DOID:891", "name": "progressive myoclonus epilepsy", "description": "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.", "url": "https://disease-ontology.org/term/DOID:891", "evidence": [ { "id": "891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:891" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "polysaccharide binding", "id": "GO:0030247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity", "id": "GO:0004373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "starch binding", "id": "GO:2001070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001070", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "carbohydrate phosphatase activity", "id": "GO:0019203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019203", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "glycogen binding", "id": "GO:2001069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001069", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" } ], "biological_process": [ { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "dephosphorylation", "id": "GO:0016311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016311", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "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": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "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": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "glial cell proliferation", "id": "GO:0014009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014009", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of dephosphorylation", "id": "GO:0035305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035305", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of glycogen (starch) synthase activity", "id": "GO:2000465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000465", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "negative regulation of phosphatase activity", "id": "GO:0010923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010923", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of protein import into nucleus", "id": "GO:0042306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042306", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "carbohydrate phosphorylation", "id": "GO:0046835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046835", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "regulation of ubiquitin protein ligase activity", "id": "GO:1904666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904666", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of endoplasmic reticulum membrane", "id": "GO:0098554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098554", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" }, { "name": "cytoplasmic side of rough endoplasmic reticulum membrane", "id": "GO:0098556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098556", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Arg107", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11266575", "evidence": [ { "id": "rs3389098449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389098449" } ] } ], "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "127", "end_pos": "127", "site_lbl": "His127", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11266637", "evidence": [ { "id": "rs3401000748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401000748" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Trp128", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11266640", "evidence": [ { "id": "rs3400843373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400843373" } ] }, { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11266639", "evidence": [ { "id": "rs3399761708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399761708" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Glu130", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11266644", "evidence": [ { "id": "rs3400938818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400938818" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Val185", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11324465", "evidence": [ { "id": "rs3389075895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389075895" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11324588", "evidence": [ { "id": "rs37472621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37472621" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Thr260", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11332946", "evidence": [ { "id": "rs3389093710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389093710" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Asp305", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11333083", "evidence": [ { "id": "rs3389091430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389091430" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Lys322", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "11333134", "evidence": [ { "id": "rs29369928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29369928" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Thr193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Nearly abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Cys265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of phosphatase activity with glycogen and synthetic substrates.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "24430976", "url": "https://glygen.org/publication/PubMed/24430976" }, { "database": "PubMed", "id": "18040046", "url": "https://glygen.org/publication/PubMed/18040046" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Gln292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Tyr293", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Nearly abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Pro300", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Trp32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Loss of glycogen phosphatase activity. Nearly abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" }, { "database": "PubMed", "id": "18040046", "url": "https://glygen.org/publication/PubMed/18040046" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA5-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Phe83", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://glygen.org/publication/PubMed/16971387" } ] } ] } ], "record_id": "Q9WUA5-1" }, { "uniprot_canonical_ac": "Q9JL04-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1578, "chemical_mass": 167387.0, "gene_names": "Fmn2;Fmn2", "protein_name": "Formin-2", "disease": [ { "disease_id": "DOID:0081211", "name": "autosomal recessive intellectual developmental disorder 47", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0081211", "evidence": [ { "id": "0081211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081211" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "intracellular transport", "id": "GO:0046907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046907", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "actin nucleation", "id": "GO:0045010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045010", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "meiotic chromosome movement towards spindle pole", "id": "GO:0016344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016344", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "polar body extrusion after meiotic divisions", "id": "GO:0040038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040038", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "establishment of meiotic spindle localization", "id": "GO:0051295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051295", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "homologous chromosome movement towards spindle pole in meiosis I anaphase", "id": "GO:0051758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051758", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "formin-nucleated actin cable assembly", "id": "GO:0070649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070649", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "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": 243, "start_aa": "Ser", "end_pos": 243, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser243", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9JL04", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JL04" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Thr249", "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": 249, "start_aa": "Thr", "end_pos": 249, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr249", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9JL04", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JL04" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Thr262", "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": 262, "start_aa": "Thr", "end_pos": 262, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr262", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9JL04", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "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": 263, "start_aa": "Thr", "end_pos": 263, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr263", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9JL04", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JL04" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9JL04", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JL04" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "174330399", "evidence": [ { "id": "rs3388519999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388519999" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "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": 366, "start_aa": "Ser", "end_pos": 366, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser366", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9JL04", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JL04" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Thr715", "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": 715, "start_aa": "Thr", "end_pos": 715, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr715", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9JL04", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "878", "end_pos": "878", "site_lbl": "Thr878", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 878, "start_aa": "Thr", "end_pos": 878, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr878", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JL04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JL04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JL04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JL04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JL04" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Lys537", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFC->NFC).", "chr_id": "1", "chr_pos": "174364675", "evidence": [ { "id": "rs3388519204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388519204" } ] } ] }, { "uniprot_canonical_ac": "Q9JL04-1", "start_pos": "1571", "end_pos": "1571", "site_lbl": "Lys1571", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly reduced interaction with SPIRE1.", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21705804", "url": "https://glygen.org/publication/PubMed/21705804" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Strongly reduced interaction with SPIRE1.", "evidence": [ { "database": "UniProtKB", "id": "Q9JL04", "url": "https://www.uniprot.org/uniprotkb/Q9JL04" }, { "database": "PubMed", "id": "21705804", "url": "https://glygen.org/publication/PubMed/21705804" } ] } ] } ], "record_id": "Q9JL04-1" }, { "uniprot_canonical_ac": "O09100-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 480, "chemical_mass": 50468.0, "gene_names": "Gata2;Gata-2;Gata2", "protein_name": "Endothelial transcription factor GATA-2", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0111947", "name": "immunodeficiency 21", "description": "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.", "url": "https://disease-ontology.org/term/DOID:0111947", "evidence": [ { "id": "0111947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111947" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "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 } ], "biological_process": [ { "name": "regulation of primitive erythrocyte differentiation", "id": "GO:0010725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010725", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "eosinophil fate commitment", "id": "GO:0035854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035854", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "negative regulation of macrophage differentiation", "id": "GO:0045650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045650", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of megakaryocyte differentiation", "id": "GO:0045654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045654", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "commitment of neuronal cell to specific neuron type in forebrain", "id": "GO:0021902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021902", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "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": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron differentiation", "id": "GO:0021514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021514", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cell differentiation in hindbrain", "id": "GO:0021533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021533", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "semicircular canal development", "id": "GO:0060872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060872", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "GABAergic neuron differentiation", "id": "GO:0097154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097154", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "regulation of forebrain neuron differentiation", "id": "GO:2000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000977", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "negative regulation of neural precursor cell proliferation", "id": "GO:2000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000178", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:1903589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903589", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "C2H2 zinc finger domain binding", "id": "GO:0070742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070742", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O09100-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Thr", "end_pos": 176, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr176", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O09100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O09100" }, { "database": "PubMed", "id": "25670854", "url": "https://glygen.org/publication/PubMed/25670854" } ] } ] }, { "uniprot_canonical_ac": "O09100-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Thr455", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 455, "start_aa": "Thr", "end_pos": 455, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr455", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O09100-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Thr457", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 457, "start_aa": "Thr", "end_pos": 457, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr457", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O09100-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ] } ] }, { "uniprot_canonical_ac": "O09100-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O09100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O09100" }, { "database": "PubMed", "id": "15837948", "url": "https://glygen.org/publication/PubMed/15837948" } ] } ] }, { "uniprot_canonical_ac": "O09100-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O09100", "url": "https://www.uniprot.org/uniprotkb/O09100" } ] } ] } ], "record_id": "O09100-1" }, { "uniprot_canonical_ac": "P22339-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 160, "chemical_mass": 17783.0, "gene_names": "Gadd45b;Gadd45b;Myd118", "protein_name": "Growth arrest and DNA damage-inducible protein GADD45 beta", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P22339", "url": "https://www.uniprot.org/uniprotkb/P22339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P22339-1" }, { "uniprot_canonical_ac": "A2AD83-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 703, "chemical_mass": 80330.0, "gene_names": "Frmd7;EG665849;Frmd7;Gm1533", "protein_name": "FERM domain-containing protein 7", "disease": [ { "disease_id": "DOID:0111790", "name": "congenital nystagmus 1", "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0111790", "evidence": [ { "id": "0111790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111790" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "negative regulation of stress fiber assembly", "id": "GO:0051497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051497", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprotkb/A2AD83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AD83-1" }, { "uniprot_canonical_ac": "Q80TD3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1108, "chemical_mass": 122520.0, "gene_names": "Fnip2;D630023B12Rik;Fnip2;Kiaa1450;Mapo1;mKIAA1450", "protein_name": "Folliculin-interacting protein 2", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "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": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "FNIP-folliculin RagC/D GAP", "id": "GO:1990877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990877", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" }, { "name": "ATPase inhibitor activity", "id": "GO:0042030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042030", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TD3-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ] } ] }, { "uniprot_canonical_ac": "Q80TD3-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ] } ] }, { "uniprot_canonical_ac": "Q80TD3-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Ser720", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" } ] } ] }, { "uniprot_canonical_ac": "Q80TD3-1", "start_pos": "721", "end_pos": "721", "site_lbl": "Ser721", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TD3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TD3" } ] } ] }, { "uniprot_canonical_ac": "Q80TD3-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TD3", "url": "https://www.uniprot.org/uniprotkb/Q80TD3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80TD3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TD3" } ] } ] } ], "record_id": "Q80TD3-1" }, { "uniprot_canonical_ac": "P23772-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 443, "chemical_mass": 47968.0, "gene_names": "Gata3;Gata-3;Gata3;jal", "protein_name": "Trans-acting T-cell-specific transcription factor GATA-3", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060348", "name": "hypoparathyroidism-retardation-dysmorphism syndrome", "description": "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.", "url": "https://disease-ontology.org/term/DOID:0060348", "evidence": [ { "id": "0060348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060348" } ], "weight": 0.0 }, { "disease_id": "DOID:0060878", "name": "hypoparathyroidism-deafness-renal disease syndrome", "description": "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.", "url": "https://disease-ontology.org/term/DOID:0060878", "evidence": [ { "id": "0060878", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060878" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:11199", "name": "hypoparathyroidism", "description": "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.", "url": "https://disease-ontology.org/term/DOID:11199", "evidence": [ { "id": "11199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11199" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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: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 } ], "biological_process": [ { "name": "thymic T cell selection", "id": "GO:0045061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045061", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of interleukin-5 production", "id": "GO:0032754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032754", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "parathyroid gland development", "id": "GO:0060017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060017", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cellular response to interferon-alpha", "id": "GO:0035457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035457", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "ureter maturation", "id": "GO:0035799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035799", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of cell motility", "id": "GO:2000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000146", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "T-helper 2 cell differentiation", "id": "GO:0045064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045064", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "ear development", "id": "GO:0043583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043583", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "immune system development", "id": "GO:0002520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002520", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "lymphocyte migration", "id": "GO:0072676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072676", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "type IV hypersensitivity", "id": "GO:0001806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001806", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "pro-T cell differentiation", "id": "GO:0002572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002572", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "parathyroid hormone secretion", "id": "GO:0035898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035898", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043370", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "mast cell differentiation", "id": "GO:0060374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060374", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "nephric duct formation", "id": "GO:0072179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072179", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in mesonephros development", "id": "GO:2000607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000607", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of thyroid hormone generation", "id": "GO:2000611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000611", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of transcription regulatory region DNA binding", "id": "GO:2000679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000679", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of cellular response to X-ray", "id": "GO:2000683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000683", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation", "id": "GO:2000703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000703", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation", "id": "GO:2000734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000734", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "norepinephrine biosynthetic process", "id": "GO:0042421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042421", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "nephric duct morphogenesis", "id": "GO:0072178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072178", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of establishment of cell polarity", "id": "GO:2000114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000114", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "mesenchymal to epithelial transition", "id": "GO:0060231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060231", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cell activation", "id": "GO:0001775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001775", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4 production", "id": "GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "negative regulation of mammary gland epithelial cell proliferation", "id": "GO:0033600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033600", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "regulation of nephron tubule epithelial cell differentiation", "id": "GO:0072182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072182", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "ureteric bud formation", "id": "GO:0060676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060676", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "positive regulation of ureteric bud formation", "id": "GO:0072107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072107", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "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": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "HMG box domain binding", "id": "GO:0071837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071837", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "histone methyltransferase binding", "id": "GO:1990226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990226", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "interleukin-2 receptor binding", "id": "GO:0005134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005134", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23772-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Thr155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 155, "start_aa": "Thr", "end_pos": 155, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr155", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Thr168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Thr", "end_pos": 168, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr168", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23772" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Tyr344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Dramatically decreased Th2 cell differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Lys346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Moderately decreased Th2 cell differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "348", "end_pos": "348", "site_lbl": "His348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Dramatically decreased Th2 cell differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Arg352", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Fails to induce Th2 cytokine production.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] } ] }, { "uniprot_canonical_ac": "P23772-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Pro353", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Fails to induce Th2 cytokine production.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] }, { "sequence_org": "P", "sequence_mut": "K", "comment": "Fails to induce Th2 cytokine production.", "evidence": [ { "database": "UniProtKB", "id": "P23772", "url": "https://www.uniprot.org/uniprotkb/P23772" }, { "database": "PubMed", "id": "17056504", "url": "https://glygen.org/publication/PubMed/17056504" } ] } ] } ], "record_id": "P23772-1" }, { "uniprot_canonical_ac": "Q99JP7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 662, "chemical_mass": 70251.0, "gene_names": "Ggt7;1110017C11Rik;6330563L03Rik;Ggt7;Ggtl3", "protein_name": "Glutathione hydrolase 7", "disease": [], "biological_process": [ { "name": "glutathione biosynthetic process", "id": "GO:0006750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006750", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" }, { "name": "glutathione catabolic process", "id": "GO:0006751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006751", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" }, { "name": "negative regulation of response to oxidative stress", "id": "GO:1902883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902883", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "glutathione hydrolase activity", "id": "GO:0036374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036374", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" }, { "name": "leukotriene C4 gamma-glutamyl transferase activity", "id": "GO:0103068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0103068", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RNESHLIDFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "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" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "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": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Asn267", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 267, "start_aa": "Asn", "end_pos": 267, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn267", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95995BI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LPWSQVLAFAAAVAQDGFNVTHDLAHALAEQLPPNASDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "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" } ] }, { "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": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Asn330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Asn353", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Asn394", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GHLVLSPPPPHTGPALISALNILEGFNLTSLVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 394, "start_aa": "Asn", "end_pos": 394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn394", "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" } ] }, { "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": 394, "start_aa": "Asn", "end_pos": 394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn394", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asn519", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G91560MT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PFGSGLLTPSGILLNSQMLDFSWPNRTANHSAPSLENSVQPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 519, "start_aa": "Asn", "end_pos": 519, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn519", "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" } ] }, { "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": 519, "start_aa": "Asn", "end_pos": 519, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn519", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Thr521", "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": 521, "start_aa": "Thr", "end_pos": 521, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr521", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q99JP7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JP7" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Asn523", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TANHSAPSLENSVQPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "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": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Ser528", "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": 528, "start_aa": "Ser", "end_pos": 528, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser528", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q99JP7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JP7" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Asn586", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSDSLAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2332", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2332" } ] }, { "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": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "Q99JP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99JP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "2", "chr_pos": "155347989", "evidence": [ { "id": "rs47157276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47157276" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99JP7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JP7" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP7", "url": "https://www.uniprot.org/uniprotkb/Q99JP7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q99JP7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q99JP7" }, { "database": "iPTMnet", "id": "Q99JP7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JP7" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q99JP7-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SCT->NCT).", "chr_id": "2", "chr_pos": "155347989", "evidence": [ { "id": "rs47157276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47157276" } ] } ] } ], "record_id": "Q99JP7-1" }, { "uniprot_canonical_ac": "P97855-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 465, "chemical_mass": 51829.0, "gene_names": "G3bp1;B430204O07;G3bp1;G3bp;mKIAA4115", "protein_name": "Ras GTPase-activating protein-binding protein 1", "disease": [], "molecular_function": [ { "name": "DNA/RNA helicase activity", "id": "GO:0033677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033677", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97855-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "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": 260, "start_aa": "Ser", "end_pos": 260, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser260", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P97855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97855" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Thr266", "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": 266, "start_aa": "Thr", "end_pos": 266, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr266", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P97855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97855" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P97855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97855" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Thr268", "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": 268, "start_aa": "Thr", "end_pos": 268, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr268", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P97855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97855" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P97855", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asn37", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSYAHGGLDSNGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "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": "P97855-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "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": 39, "start_aa": "Ser", "end_pos": 39, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser39", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P97855", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97855" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asn69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VMSQNFTNCHTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "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": "P97855-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Thr143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" }, { "database": "PubMed", "id": "11604510", "url": "https://glygen.org/publication/PubMed/11604510" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P97855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97855" }, { "database": "PubMed", "id": "33065005", "url": "https://glygen.org/publication/PubMed/33065005" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "11604510", "url": "https://glygen.org/publication/PubMed/11604510" }, { "database": "iPTMnet", "id": "P97855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97855", "url": "https://www.uniprot.org/uniprotkb/P97855" } ] } ] }, { "uniprot_canonical_ac": "P97855-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Lys411", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "11", "chr_pos": "55390329", "evidence": [ { "id": "rs3389096438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389096438" } ] } ] } ], "record_id": "P97855-1" }, { "uniprot_canonical_ac": "Q00342-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1000, "chemical_mass": 113496.0, "gene_names": "Flt3;B230315G04;CD135;Flk-2;Flk2;Flt-3;Flt3;Ly72;wmfl", "protein_name": "Receptor-type tyrosine-protein kinase FLT3", "disease": [ { "disease_id": "DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.", "url": "https://disease-ontology.org/term/DOID:0050458", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081082", "name": "acute myelomonocytic leukemia", "description": "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.", "url": "https://disease-ontology.org/term/DOID:0081082", "evidence": [ { "id": "0081082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081082" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "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: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: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 } ], "biological_process": [ { "name": "myeloid progenitor cell differentiation", "id": "GO:0002318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002318", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "pro-B cell differentiation", "id": "GO:0002328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002328", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "dendritic cell homeostasis", "id": "GO:0036145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036145", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "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": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "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": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "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": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "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": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "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": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "common myeloid progenitor cell proliferation", "id": "GO:0035726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035726", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "leukocyte homeostasis", "id": "GO:0001776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001776", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "lymphocyte proliferation", "id": "GO:0046651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046651", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "pro-T cell differentiation", "id": "GO:0002572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002572", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "lymphocyte differentiation", "id": "GO:0030098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030098", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "negative regulation of B cell differentiation", "id": "GO:0045578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045578", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00342-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Asn152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asn307", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 307, "start_aa": "Asn", "end_pos": 307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn307", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Asn324", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NDTGYYTCSSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "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" } ] }, { "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": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Asn352", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 352, "start_aa": "Asn", "end_pos": 352, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn352", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Asn445", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 445, "start_aa": "Asn", "end_pos": 445, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVLISHENNGSSAGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "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" } ] }, { "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": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Asn474", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPNCTEEIPEGVWNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 474, "start_aa": "Asn", "end_pos": 474, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn474", "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" } ] }, { "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": 474, "start_aa": "Asn", "end_pos": 474, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn474", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Asn503", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KVFGQWVSSSTLNMSEAGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 503, "start_aa": "Asn", "end_pos": 503, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn503", "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" } ] }, { "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": 503, "start_aa": "Asn", "end_pos": 503, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn503", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Asn542", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 542, "start_aa": "Asn", "end_pos": 542, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn542", "evidence": [ { "id": "Q00342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00342#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Asn627", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VMNATAYGISK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "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": "Q00342-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Asn723", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28929VW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EHNFSFYPTFQAHSNSSMPGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 723, "start_aa": "Asn", "end_pos": 723, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn723", "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": "Q00342-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Thr98", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Ser1000", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Tyr573", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Ser575", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Tyr590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q00342-1", "kinase_gene_name": "Flt3", "evidence": [ { "database": "iPTMnet", "id": "Q00342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00342" }, { "database": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Tyr592", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q00342-1", "kinase_gene_name": "Flt3", "evidence": [ { "database": "iPTMnet", "id": "Q00342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00342" }, { "database": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Tyr600", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Tyr727", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Ser760", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Tyr769", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Tyr796", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Tyr845", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "958", "end_pos": "958", "site_lbl": "Tyr958", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "972", "end_pos": "972", "site_lbl": "Tyr972", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" } ] } ] }, { "uniprot_canonical_ac": "Q00342-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Lys645", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity; no effect on FIZ1-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q00342", "url": "https://www.uniprot.org/uniprotkb/Q00342" }, { "database": "PubMed", "id": "10409713", "url": "https://glygen.org/publication/PubMed/10409713" } ] } ] } ], "record_id": "Q00342-1" }, { "uniprot_canonical_ac": "Q3U0V1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 748, "chemical_mass": 76775.0, "gene_names": "Khsrp;6330409F21Rik;Fbp2;Fubp2;Khsrp;Ksrp", "protein_name": "Far upstream element-binding protein 2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle clearance", "id": "GO:0010989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010989", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "miRNA metabolic process", "id": "GO:0010586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010586", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "positive regulation of mRNA catabolic process", "id": "GO:0061014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061014", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "regulation of miRNA metabolic process", "id": "GO:2000628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000628", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "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": 192, "start_aa": "Ser", "end_pos": 192, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser192", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3U0V1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U0V1" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3U0V1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U0V1" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Thr704", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 704, "start_aa": "Thr", "end_pos": 704, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr704", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Thr95", "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": 95, "start_aa": "Thr", "end_pos": 95, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr95", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3U0V1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U0V1" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "Q3U0V1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U0V1" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Thr96", "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": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q3U0V1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U0V1" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3U0V1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U0V1" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Thr101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ser130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" }, { "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": "Q3U0V1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Ser481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V1", "url": "https://www.uniprot.org/uniprotkb/Q3U0V1" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Thr693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P47811-1", "kinase_gene_name": "Mapk14", "evidence": [ { "database": "iPTMnet", "id": "Q3U0V1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U0V1" }, { "database": "PubMed", "id": "16364914", "url": "https://glygen.org/publication/PubMed/16364914" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Lys449", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVK->NVT).", "chr_id": "17", "chr_pos": "57331156", "evidence": [ { "id": "rs3389474978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389474978" } ] } ] }, { "uniprot_canonical_ac": "Q3U0V1-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Tyr552", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTY->NTC).", "chr_id": "17", "chr_pos": "57330540", "evidence": [ { "id": "rs3389468203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389468203" } ] } ] } ], "record_id": "Q3U0V1-1" }, { "uniprot_canonical_ac": "Q3UCQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 651, "chemical_mass": 68446.0, "gene_names": "Foxk2;1110054H05Rik;5730434B08Rik;6230415M23Rik;Foxk2;ILF;Ilf1", "protein_name": "Forkhead box protein K2", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "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": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "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": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "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": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "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": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "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": 415, "start_aa": "Ser", "end_pos": 415, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser415", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UCQ1" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UCQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Thr539", "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": 539, "start_aa": "Thr", "end_pos": 539, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr539", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UCQ1" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "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": 540, "start_aa": "Ser", "end_pos": 540, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser540", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UCQ1" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Thr543", "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": 543, "start_aa": "Thr", "end_pos": 543, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr543", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UCQ1" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Thr547", "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": 547, "start_aa": "Thr", "end_pos": 547, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr547", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Thr549", "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": 549, "start_aa": "Thr", "end_pos": 549, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr549", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UCQ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Ser364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UCQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" }, { "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": "Q3UCQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UCQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ser590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UCQ1", "url": "https://www.uniprot.org/uniprotkb/Q3UCQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UCQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UCQ1" } ] } ] }, { "uniprot_canonical_ac": "Q3UCQ1-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Asp228", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "11", "chr_pos": "121178851", "evidence": [ { "id": "rs3389228914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389228914" } ] } ] } ], "record_id": "Q3UCQ1-1" }, { "uniprot_canonical_ac": "Q61086-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 666, "chemical_mass": 76208.0, "gene_names": "Fzd3;D930050A07Rik;Fz3;Fzd3;fz-3;mFz3", "protein_name": "Frizzled-3", "disease": [ { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" } ], "biological_process": [ { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "sympathetic ganglion development", "id": "GO:0061549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061549", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "cell proliferation in midbrain", "id": "GO:0033278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033278", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "negative regulation of execution phase of apoptosis", "id": "GO:1900118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900118", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle, embryonic", "id": "GO:0045976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045976", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "dopaminergic neuron axon guidance", "id": "GO:0036514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036514", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" }, { "name": "serotonergic neuron axon guidance", "id": "GO:0036515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036515", "evidence": [ { "database": "UniProtKB", "id": "Q61086", "url": "https://www.uniprot.org/uniprotkb/Q61086" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61086-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "Q61086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61086#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61086-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Asn356", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "Q61086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61086#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61086-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "Q61086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61086#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61086-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G77547TA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVNESR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 521, "start_aa": "Asn", "end_pos": 521, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn521", "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": "Q61086-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SEC->NEC).", "chr_id": "14", "chr_pos": "65477230", "evidence": [ { "id": "rs49851255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49851255" } ] } ] } ], "record_id": "Q61086-1" }, { "uniprot_canonical_ac": "Q66JX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 399, "chemical_mass": 42758.0, "gene_names": "Cep43;4930553O10Rik;Cep43;FOP;Fgfr1op", "protein_name": "Centrosomal protein 43", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "microtubule anchoring", "id": "GO:0034453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034453", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" }, { "name": "protein tyrosine kinase inhibitor activity", "id": "GO:0030292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030292", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Thr170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 170, "start_aa": "Thr", "end_pos": 170, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr170", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Tyr337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66JX5", "url": "https://www.uniprot.org/uniprotkb/Q66JX5" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q66JX5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66JX5" } ] } ] }, { "uniprot_canonical_ac": "Q66JX5-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asn61", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEN->NES).", "chr_id": "17", "chr_pos": "8387892", "evidence": [ { "id": "rs224586042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224586042" } ] } ] } ], "record_id": "Q66JX5-1" }, { "uniprot_canonical_ac": "Q6PAR5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1458, "chemical_mass": 162402.0, "gene_names": "Gapvd1;2010005B09Rik;4432404J10Rik;Gapex-5;Gapex5;Gapvd1;Kiaa1521;RAP6;RME-6;mKIAA1521", "protein_name": "GTPase-activating protein and VPS9 domain-containing protein 1", "disease": [ { "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 } ], "biological_process": [ { "name": "regulation of protein transport", "id": "GO:0051223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051223", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Thr762", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 762, "start_aa": "Thr", "end_pos": 762, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr762", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Ser798", "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": 798, "start_aa": "Ser", "end_pos": 798, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser798", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6PAR5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Thr800", "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": 800, "start_aa": "Thr", "end_pos": 800, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr800", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6PAR5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Ser801", "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": 801, "start_aa": "Ser", "end_pos": 801, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser801", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6PAR5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Ser1017", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Ser1044", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "1076", "end_pos": "1076", "site_lbl": "Ser1076", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Thr390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Thr458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Tyr460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Thr470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Ser566", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ser569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Ser757", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "766", "end_pos": "766", "site_lbl": "Ser766", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "876", "end_pos": "876", "site_lbl": "Ser876", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Ser902", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Ser903", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Ser908", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PAR5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Ser914", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] }, { "uniprot_canonical_ac": "Q6PAR5-1", "start_pos": "964", "end_pos": "964", "site_lbl": "Ser964", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PAR5", "url": "https://www.uniprot.org/uniprotkb/Q6PAR5" } ] } ] } ], "record_id": "Q6PAR5-1" }, { "uniprot_canonical_ac": "Q6RFH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 20988.0, "gene_names": "Gcsam;Gcet2;Gcet;Gcsam;M17-L;M17", "protein_name": "Germinal center-associated signaling and motility protein", "disease": [], "molecular_function": [ { "name": "myosin II binding", "id": "GO:0045159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045159", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of lymphocyte migration", "id": "GO:2000402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000402", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" }, { "name": "regulation of B cell receptor signaling pathway", "id": "GO:0050855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050855", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6RFH4-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6RFH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6RFH4" } ] } ] }, { "uniprot_canonical_ac": "Q6RFH4-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Tyr150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6RFH4", "url": "https://www.uniprot.org/uniprotkb/Q6RFH4" } ] } ] } ], "record_id": "Q6RFH4-1" }, { "uniprot_canonical_ac": "Q70KY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 57595.0, "gene_names": "Foxo6;Foxo6", "protein_name": "Forkhead box protein O6", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "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": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q70KY4-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" }, { "database": "PubMed", "id": "12857750", "url": "https://glygen.org/publication/PubMed/12857750" }, { "database": "iPTMnet", "id": "Q70KY4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q70KY4" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No IGF1-induced increase in cytoplasmic localization. Increased transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" }, { "database": "PubMed", "id": "12857750", "url": "https://glygen.org/publication/PubMed/12857750" } ] } ] }, { "uniprot_canonical_ac": "Q70KY4-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Thr26", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No IGF1-induced increase in cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "Q70KY4", "url": "https://www.uniprot.org/uniprotkb/Q70KY4" }, { "database": "PubMed", "id": "12857750", "url": "https://glygen.org/publication/PubMed/12857750" } ] } ] } ], "record_id": "Q70KY4-1" }, { "uniprot_canonical_ac": "Q76JU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 300, "chemical_mass": 31804.0, "gene_names": "Ffar1;Ffar1;Gpr40", "protein_name": "Free fatty acid receptor 1", "disease": [ { "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 } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "bioactive lipid receptor activity", "id": "GO:0045125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045125", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "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": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q76JU9", "url": "https://www.uniprot.org/uniprotkb/Q76JU9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q76JU9-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Asn153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "Q76JU9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q76JU9#ptm_processing" } ] } ] } ], "record_id": "Q76JU9-1" }, { "uniprot_canonical_ac": "Q920B0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1035, "chemical_mass": 118007.0, "gene_names": "Frmd4b;6030440G05Rik;Frmd4b;GOBLIN;GRSP1", "protein_name": "FERM domain-containing protein 4B", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" } ], "biological_process": [ { "name": "establishment of epithelial cell polarity", "id": "GO:0090162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090162", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q920B0-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Thr745", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 745, "start_aa": "Thr", "end_pos": 745, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr745", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q920B0-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" }, { "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": "Q920B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q920B0" } ] } ] }, { "uniprot_canonical_ac": "Q920B0-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Ser609", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ] } ] }, { "uniprot_canonical_ac": "Q920B0-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q920B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q920B0" } ] } ] }, { "uniprot_canonical_ac": "Q920B0-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Ser916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920B0", "url": "https://www.uniprot.org/uniprotkb/Q920B0" } ] } ] } ], "record_id": "Q920B0-1" }, { "uniprot_canonical_ac": "Q9Z1T6-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2097, "chemical_mass": 236877.0, "gene_names": "Pikfyve;5230400C17Rik;Fab1;Kiaa0981;Pikfyve;Pip5k3;Pip5k;Pipk5k3;PipkIII;p235", "protein_name": "1-phosphatidylinositol 3-phosphate 5-kinase", "disease": [ { "disease_id": "DOID:0060448", "name": "Fleck corneal dystrophy", "description": "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.", "url": "https://disease-ontology.org/term/DOID:0060448", "evidence": [ { "id": "0060448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060448" } ], "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:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "1-phosphatidylinositol-5-kinase activity", "id": "GO:0052810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052810", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-3-phosphate 5-kinase activity", "id": "GO:0000285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000285", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-4-phosphate 5-kinase activity", "id": "GO:0016308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016308", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" } ], "biological_process": [ { "name": "phagosome maturation", "id": "GO:0090382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090382", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species biosynthetic process", "id": "GO:1903426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903426", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "myelin assembly", "id": "GO:0032288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032288", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "phosphatidylinositol 5-phosphate metabolic process", "id": "GO:1904562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904562", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "phagosome-lysosome fusion", "id": "GO:0090385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090385", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "peptidyl-serine autophosphorylation", "id": "GO:0036289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036289", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis of virus by host cell", "id": "GO:0019065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019065", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process", "id": "GO:1903100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903100", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" }, { "name": "PAS complex", "id": "GO:0070772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070772", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "943", "end_pos": "943", "site_lbl": "Asn943", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G33416PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GELDNKSIPQAVASLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 943, "start_aa": "Asn", "end_pos": 943, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn943", "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": "Q9Z1T6-2", "start_pos": "1543", "end_pos": "1543", "site_lbl": "Ser1543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "1548", "end_pos": "1548", "site_lbl": "Ser1548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "1668", "end_pos": "1668", "site_lbl": "Ser1668", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "1753", "end_pos": "1753", "site_lbl": "Ser1753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1T6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "1968", "end_pos": "1968", "site_lbl": "Ser1968", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "2052", "end_pos": "2052", "site_lbl": "Ser2052", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1T6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1T6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1T6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "46", "end_pos": "46", "site_lbl": "Tyr46", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "1", "chr_pos": "65229622", "evidence": [ { "id": "rs864259612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864259612" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "684", "end_pos": "684", "site_lbl": "Phe684", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGF->NGS).", "chr_id": "1", "chr_pos": "65274212", "evidence": [ { "id": "rs3388475995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388475995" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T6-2", "start_pos": "1831", "end_pos": "1831", "site_lbl": "Lys1831", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Loss of kinase activity. Decreases RABEPK location to membranes. Abolishes EGFR translocation to the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T6", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T6" }, { "database": "PubMed", "id": "11123925", "url": "https://glygen.org/publication/PubMed/11123925" }, { "database": "PubMed", "id": "14530284", "url": "https://glygen.org/publication/PubMed/14530284" }, { "database": "PubMed", "id": "17909029", "url": "https://glygen.org/publication/PubMed/17909029" } ] } ] } ], "record_id": "Q9Z1T6-2" }, { "uniprot_canonical_ac": "Q8R1I2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 15659.0, "gene_names": "Grp;BLP;Grp", "protein_name": "Gastrin-releasing peptide", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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 } ], "biological_process": [ { "name": "negative regulation of transmission of nerve impulse", "id": "GO:0051970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051970", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "positive regulation of peptide hormone secretion", "id": "GO:0090277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090277", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "response to external biotic stimulus", "id": "GO:0043207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043207", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "psychomotor behavior", "id": "GO:0036343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036343", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:1900738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900738", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell apoptotic process", "id": "GO:1905461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905461", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "positive regulation of respiratory gaseous exchange", "id": "GO:1903942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903942", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" } ], "cellular_component": [ { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q8R1I2", "url": "https://www.uniprot.org/uniprotkb/Q8R1I2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R1I2-1" }, { "uniprot_canonical_ac": "Q8VEB1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 67732.0, "gene_names": "Grk5;Gprk5;Grk5", "protein_name": "G protein-coupled receptor kinase 5", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "G protein-coupled receptor kinase activity", "id": "GO:0004703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004703", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "beta-adrenergic receptor kinase activity", "id": "GO:0047696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047696", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "desensitization of G protein-coupled receptor signaling pathway", "id": "GO:0002029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002029", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "tachykinin receptor signaling pathway", "id": "GO:0007217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007217", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106072", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VEB1-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" } ] } ] }, { "uniprot_canonical_ac": "Q8VEB1-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8VEB1-1", "kinase_gene_name": "Grk5", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q8VEB1-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8VEB1-1", "kinase_gene_name": "Grk5", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q8VEB1-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ser579", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VEB1", "url": "https://www.uniprot.org/uniprotkb/Q8VEB1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VEB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VEB1" } ] } ] } ], "record_id": "Q8VEB1-1" }, { "uniprot_canonical_ac": "O88895-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 428, "chemical_mass": 48821.0, "gene_names": "Hdac3;Hdac3", "protein_name": "Histone deacetylase 3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0070227", "name": "intrahepatic cholestasis of pregnancy", "description": "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.", "url": "https://disease-ontology.org/term/DOID:0070227", "evidence": [ { "id": "0070227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070227" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "random inactivation of X chromosome", "id": "GO:0060816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060816", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cellular response to parathyroid hormone stimulus", "id": "GO:0071374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071374", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "negative regulation of protein export from nucleus", "id": "GO:0046826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046826", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell differentiation", "id": "GO:2000726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000726", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of type B pancreatic cell apoptotic process", "id": "GO:2000676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000676", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cornified envelope assembly", "id": "GO:1903575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903575", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "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": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "positive regulation of ferroptosis", "id": "GO:0160020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160020", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone decrotonylase activity", "id": "GO:0160009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160009", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "protein de-2-hydroxyisobutyrylase activity", "id": "GO:0160010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160010", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "protein decrotonylase activity", "id": "GO:0160008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160008", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "protein lysine delactylase activity", "id": "GO:0160216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160216", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone deacetylase activity, hydrolytic mechanism", "id": "GO:0141221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141221", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone isonicotinyllysine deisonicotinylase activity", "id": "GO:0140229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140229", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88895-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" }, { "database": "PRO", "id": "O88895", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=O88895" }, { "database": "iPTMnet", "id": "O88895", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88895" }, { "database": "PubMed", "id": "27798112", "url": "https://glygen.org/publication/PubMed/27798112" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Deacetylase-dead mutant. No effect on its interaction with BMAL1, CRY1 and FBXL3 or its ability to regulate the circadian clock.", "evidence": [ { "database": "UniProtKB", "id": "O88895", "url": "https://www.uniprot.org/uniprotkb/O88895" }, { "database": "PubMed", "id": "26776516", "url": "https://glygen.org/publication/PubMed/26776516" } ] } ] } ], "record_id": "O88895-1" }, { "uniprot_canonical_ac": "Q8BHK6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 333, "chemical_mass": 37187.0, "gene_names": "Slamf7;19A24;19A;4930560D03Rik;CRACC;CS1;Slamf7", "protein_name": "SLAM family member 7", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" }, { "name": "regulation of natural killer cell activation", "id": "GO:0032814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032814", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Asn139", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "Q8BHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Asn145", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "Q8BHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Asn156", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "Q8BHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "Q8BHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "Q8BHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Tyr282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" }, { "database": "PubMed", "id": "19151721", "url": "https://glygen.org/publication/PubMed/19151721" }, { "database": "iPTMnet", "id": "Q8BHK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK6" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on interaction with SH2D1B, increases NK cell activation in presence of SH2D1B, abolishes NK cell inhibition in absence of SH2D1B.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" }, { "database": "PubMed", "id": "19151721", "url": "https://glygen.org/publication/PubMed/19151721" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Tyr302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" }, { "database": "PubMed", "id": "19151721", "url": "https://glygen.org/publication/PubMed/19151721" }, { "database": "iPTMnet", "id": "Q8BHK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK6" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Disrupts interaction with SH2D1B, abolishes NK cell activation in presence of SH2D1B, no effect on NK cell inhibition in absence of SH2D1B.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" }, { "database": "PubMed", "id": "19151721", "url": "https://glygen.org/publication/PubMed/19151721" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK6-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Tyr287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on interaction with SH2D1, no effect on NK cell activation in presence of SH2D1B, no effect on NK cell inhibition in absence of SH2D1B.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK6", "url": "https://www.uniprot.org/uniprotkb/Q8BHK6" }, { "database": "PubMed", "id": "19151721", "url": "https://glygen.org/publication/PubMed/19151721" } ] } ] } ], "record_id": "Q8BHK6-1" }, { "uniprot_canonical_ac": "O88384-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26713.0, "gene_names": "Vti1b;Vti1l1", "protein_name": "Vesicle transport through interaction with t-SNAREs homolog 1B", "disease": [], "molecular_function": [ { "name": "chloride channel inhibitor activity", "id": "GO:0019869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019869", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "presynaptic endosome membrane", "id": "GO:0098954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098954", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "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": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "vesicle fusion with Golgi apparatus", "id": "GO:0048280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048280", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88384-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Asn187", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05609XV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LVNTNENLSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 187, "start_aa": "Asn", "end_pos": 187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn187", "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": "O88384-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Asn56", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G71784JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QEANETLAEMEEELR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "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": "O88384-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88384", "url": "https://www.uniprot.org/uniprotkb/O88384" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "O88384", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88384" } ] } ] }, { "uniprot_canonical_ac": "O88384-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Thr58", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->NEA).", "chr_id": "12", "chr_pos": "79211742", "evidence": [ { "id": "rs251198733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251198733" } ] } ] } ], "record_id": "O88384-1" }, { "uniprot_canonical_ac": "Q91VW5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2238, "chemical_mass": 257564.0, "gene_names": "Golga4;Golga4;Olp-1", "protein_name": "Golgin subfamily A member 4", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" } ], "biological_process": [ { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91VW5-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ] } ] }, { "uniprot_canonical_ac": "Q91VW5-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ] } ] }, { "uniprot_canonical_ac": "Q91VW5-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Thr39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91VW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91VW5" } ] } ] }, { "uniprot_canonical_ac": "Q91VW5-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ] } ] }, { "uniprot_canonical_ac": "Q91VW5-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VW5", "url": "https://www.uniprot.org/uniprotkb/Q91VW5" } ] } ] } ], "record_id": "Q91VW5-1" }, { "uniprot_canonical_ac": "P25801-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 158, "chemical_mass": 18340.0, "gene_names": "Lmo2;Lmo2;Rbtn-2;Rbtn2;Rhom-2;Ttg2", "protein_name": "Rhombotin-2", "disease": [ { "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 } ], "biological_process": [ { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "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": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "negative regulation of erythrocyte differentiation", "id": "GO:0045647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045647", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P25801", "url": "https://www.uniprot.org/uniprotkb/P25801" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P25801-1" }, { "uniprot_canonical_ac": "Q149L7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 393, "chemical_mass": 43907.0, "gene_names": "Crtam;Crtam", "protein_name": "Cytotoxic and regulatory T-cell molecule", "disease": [], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "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": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "lymphocyte migration into lymphoid organs", "id": "GO:0097021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097021", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "detection of tumor cell", "id": "GO:0002355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002355", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "regulation of T cell activation", "id": "GO:0050863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050863", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "cell recognition", "id": "GO:0008037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008037", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "detection of stimulus", "id": "GO:0051606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051606", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "regulation of CD8-positive, alpha-beta T cell activation", "id": "GO:2001185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001185", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target", "id": "GO:0002860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002860", "evidence": [ { "database": "UniProtKB", "id": "Q149L7", "url": "https://www.uniprot.org/uniprotkb/Q149L7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q149L7-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asn176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "Q149L7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q149L7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q149L7-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Asn85", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 85, "start_aa": "Asn", "end_pos": 85, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn85", "evidence": [ { "id": "Q149L7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q149L7#ptm_processing" } ] } ] } ], "record_id": "Q149L7-1" }, { "uniprot_canonical_ac": "Q4VAA2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 29729.0, "gene_names": "Cdv3;2510010F10Rik;C230084J24Rik;Cdv3;TPP36", "protein_name": "Protein CDV3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "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": 167, "start_aa": "Thr", "end_pos": 167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr167", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q4VAA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4VAA2" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Thr178", "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": 178, "start_aa": "Thr", "end_pos": 178, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr178", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q4VAA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4VAA2" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q4VAA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VAA2" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "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": 180, "start_aa": "Thr", "end_pos": 180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr180", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q4VAA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VAA2" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "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": 182, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr182", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q4VAA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Tyr120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" }, { "database": "PRO", "id": "Q4VAA2", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q4VAA2" }, { "database": "iPTMnet", "id": "Q4VAA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VAA2" }, { "database": "PubMed", "id": "12606058", "url": "https://glygen.org/publication/PubMed/12606058" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Thr205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Tyr213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q4VAA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Tyr267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] }, { "uniprot_canonical_ac": "Q4VAA2-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VAA2", "url": "https://www.uniprot.org/uniprotkb/Q4VAA2" } ] } ] } ], "record_id": "Q4VAA2-1" }, { "uniprot_canonical_ac": "Q8VHK1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1201, "chemical_mass": 126779.0, "gene_names": "Caskin2;1600028L06Rik;Caskin2;Kiaa1139;mKIAA1139", "protein_name": "Caskin-2", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "1099", "end_pos": "1099", "site_lbl": "Thr1099", "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": 1099, "start_aa": "Thr", "end_pos": 1099, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1099", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8VHK1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "1105", "end_pos": "1105", "site_lbl": "Ser1105", "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": 1105, "start_aa": "Ser", "end_pos": 1105, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1105", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q8VHK1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Thr657", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 657, "start_aa": "Thr", "end_pos": 657, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr657", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Thr934", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 934, "start_aa": "Thr", "end_pos": 934, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr934", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "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": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Ser406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Ser471", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Ser855", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Ser874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK1-1", "start_pos": "880", "end_pos": "880", "site_lbl": "Thr880", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK1", "url": "https://www.uniprot.org/uniprotkb/Q8VHK1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHK1" } ] } ] } ], "record_id": "Q8VHK1-1" }, { "uniprot_canonical_ac": "Q3UZA1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 412, "chemical_mass": 44114.0, "gene_names": "Rcsd1;A430105K13Rik;CapZIP;Capzip;Gm19627;Rcsd1", "protein_name": "CapZ-interacting protein", "disease": [], "biological_process": [ { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "protein localization to endosome", "id": "GO:0036010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036010", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "cellular hyperosmotic response", "id": "GO:0071474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071474", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "WASH complex", "id": "GO:0071203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071203", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" }, { "name": "retromer complex binding", "id": "GO:1905394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905394", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Thr124", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 124, "start_aa": "Thr", "end_pos": 124, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr124", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ser179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "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": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Thr243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Thr256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UZA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ] } ] }, { "uniprot_canonical_ac": "Q3UZA1-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZA1", "url": "https://www.uniprot.org/uniprotkb/Q3UZA1" } ] } ] } ], "record_id": "Q3UZA1-1" }, { "uniprot_canonical_ac": "Q99JX3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 451, "chemical_mass": 47038.0, "gene_names": "Gorasp2;0610011A07Rik;2410043M02Rik;5730520M13Rik;9430094F20Rik;GOLPH2;GRASP55;GRS2;Gorasp2;p59", "protein_name": "Golgi reassembly-stacking protein 2", "disease": [ { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "organelle organization", "id": "GO:0006996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006996", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" }, { "name": "establishment of protein localization to plasma membrane", "id": "GO:0061951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061951", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "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": 366, "start_aa": "Ser", "end_pos": 366, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser366", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q99JX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JX3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "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": 371, "start_aa": "Ser", "end_pos": 371, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser371", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q99JX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JX3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "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": 410, "start_aa": "Ser", "end_pos": 410, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser410", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q99JX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JX3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Thr425", "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": 425, "start_aa": "Thr", "end_pos": 425, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr425", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q99JX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JX3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99JX3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Thr426", "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": 426, "start_aa": "Thr", "end_pos": 426, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr426", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q99JX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JX3" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q99JX3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99JX3" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99JX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Thr417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Thr435", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99JX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Asp446", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "2", "chr_pos": "70521307", "evidence": [ { "id": "rs580440350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580440350" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Arg101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No significant effect on interaction with BLZF1.", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" }, { "database": "PubMed", "id": "28049725", "url": "https://glygen.org/publication/PubMed/28049725" } ] } ] }, { "uniprot_canonical_ac": "Q99JX3-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Gly97", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Reduced interaction with BLZF1.", "evidence": [ { "database": "UniProtKB", "id": "Q99JX3", "url": "https://www.uniprot.org/uniprotkb/Q99JX3" }, { "database": "PubMed", "id": "28049725", "url": "https://glygen.org/publication/PubMed/28049725" } ] } ] } ], "record_id": "Q99JX3-1" }, { "uniprot_canonical_ac": "Q8CDV6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDV6", "url": "https://www.uniprot.org/uniprotkb/Q8CDV6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 558, "chemical_mass": 65274.0, "gene_names": "Ccdc63;4921511C16Rik;Ccdc63", "protein_name": "Coiled-coil domain-containing protein 63", "disease": [], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q8CDV6", "url": "https://www.uniprot.org/uniprotkb/Q8CDV6" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "Q8CDV6", "url": "https://www.uniprot.org/uniprotkb/Q8CDV6" } ], "pmid": "" }, { "name": "outer dynein arm assembly", "id": "GO:0036158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "evidence": [ { "database": "UniProtKB", "id": "Q8CDV6", "url": "https://www.uniprot.org/uniprotkb/Q8CDV6" } ], "pmid": "" } ], "cellular_component": [ { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8CDV6", "url": "https://www.uniprot.org/uniprotkb/Q8CDV6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CDV6-1" }, { "uniprot_canonical_ac": "Q6SJQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 337, "chemical_mass": 36715.0, "gene_names": "Cd300lf;CLIM1;CLM-1;CLM1;Cd300lf;Clm1;Digr2;F730004D16Rik;IREM1;IgSF13;LMIR3;Lmir3;Pigr3", "protein_name": "CMRF35-like molecule 1", "disease": [], "biological_process": [ { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "negative regulation of MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0034125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034125", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "interleukin-13-mediated signaling pathway", "id": "GO:0035772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035772", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4-mediated signaling pathway", "id": "GO:1902216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902216", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "negative regulation of apoptotic cell clearance", "id": "GO:2000426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000426", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "immune response-activating signaling pathway", "id": "GO:0002757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002757", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "TRIF-dependent toll-like receptor signaling pathway", "id": "GO:0035666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035666", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "negative regulation of mast cell activation", "id": "GO:0033004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033004", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "ceramide binding", "id": "GO:0097001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097001", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" }, { "name": "interleukin-4 receptor binding", "id": "GO:0005136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005136", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ7", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6SJQ7-1" }, { "uniprot_canonical_ac": "A2RTF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1109, "chemical_mass": 126108.0, "gene_names": "Catsperb;4931410B03;4932415G16Rik;Catsperb", "protein_name": "Cation channel sperm-associated auxiliary subunit beta", "disease": [], "cellular_component": [ { "name": "CatSper complex", "id": "GO:0036128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036128", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "A2RTF1", "url": "https://www.uniprot.org/uniprotkb/A2RTF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Asn1017", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9UBW&bu=0&command=select+.E:1017;+center+selection;+zoom+selection" }, "start_pos": 1017, "start_aa": "Asn", "end_pos": 1017, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1017", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBW|E|1017", "database": "", "url": "" }, { "id": "9UBW|e|1017", "database": "", "url": "" }, { "id": "9UBX|r|1017", "database": "", "url": "" }, { "id": "9UBX|e|1017", "database": "", "url": "" }, { "id": "9UBX|E|1017", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asn118", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.E:118;+center+selection;+zoom+selection" }, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|E|118", "database": "", "url": "" }, { "id": "9UBW|E|118", "database": "", "url": "" }, { "id": "9UBW|e|118", "database": "", "url": "" }, { "id": "9UBX|r|118", "database": "", "url": "" }, { "id": "9UBX|e|118", "database": "", "url": "" }, { "id": "9UBX|E|118", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Asn321", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9UBW&bu=0&command=select+.E:321;+center+selection;+zoom+selection" }, "start_pos": 321, "start_aa": "Asn", "end_pos": 321, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn321", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBW|E|321", "database": "", "url": "" }, { "id": "9UBW|e|321", "database": "", "url": "" }, { "id": "9UBX|r|321", "database": "", "url": "" }, { "id": "9UBX|e|321", "database": "", "url": "" }, { "id": "9UBX|E|321", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "12", "chr_pos": "101474851", "evidence": [ { "id": "rs3389254391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389254391" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asn66", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asn672", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G19973ZD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "STDVEKSVLIPGYSSFLIMNITDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 672, "start_aa": "Asn", "end_pos": 672, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn672", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.E:672;+center+selection;+zoom+selection" }, "start_pos": 672, "start_aa": "Asn", "end_pos": 672, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn672", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|E|672", "database": "", "url": "" }, { "id": "9UBW|E|672", "database": "", "url": "" }, { "id": "9UBW|e|672", "database": "", "url": "" }, { "id": "9UBX|r|672", "database": "", "url": "" }, { "id": "9UBX|e|672", "database": "", "url": "" }, { "id": "9UBX|E|672", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Asn90", "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": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Asn915", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.E:915;+center+selection;+zoom+selection" }, "start_pos": 915, "start_aa": "Asn", "end_pos": 915, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn915", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|E|915", "database": "", "url": "" }, { "id": "9UBW|E|915", "database": "", "url": "" }, { "id": "9UBW|e|915", "database": "", "url": "" }, { "id": "9UBX|r|915", "database": "", "url": "" }, { "id": "9UBX|e|915", "database": "", "url": "" }, { "id": "9UBX|E|915", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Asn923", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YKQCANVTSRAMCNCSEHQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 923, "start_aa": "Asn", "end_pos": 923, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn923", "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" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.E:923;+center+selection;+zoom+selection" }, "start_pos": 923, "start_aa": "Asn", "end_pos": 923, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn923", "evidence": [ { "id": "A2RTF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2RTF1#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|E|923", "database": "", "url": "" }, { "id": "9UBW|E|923", "database": "", "url": "" }, { "id": "9UBW|e|923", "database": "", "url": "" }, { "id": "9UBX|r|923", "database": "", "url": "" }, { "id": "9UBX|e|923", "database": "", "url": "" }, { "id": "9UBX|E|923", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Thr1106", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "12", "chr_pos": "101591988", "evidence": [ { "id": "rs1134326280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134326280" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Thr674", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->NII).", "chr_id": "12", "chr_pos": "101554328", "evidence": [ { "id": "rs254362525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254362525" } ] } ] }, { "uniprot_canonical_ac": "A2RTF1-1", "start_pos": "992", "end_pos": "992", "site_lbl": "Pro992", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEP->NET).", "chr_id": "12", "chr_pos": "101590907", "evidence": [ { "id": "rs3549728780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549728780" } ] } ] } ], "record_id": "A2RTF1-1" }, { "uniprot_canonical_ac": "Q64261-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 37028.0, "gene_names": "Cdk6;Cdk6;Cdkn6;Crk2", "protein_name": "Cyclin-dependent kinase 6", "disease": [ { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0070284", "name": "primary autosomal recessive microcephaly 12", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0070284", "evidence": [ { "id": "0070284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070284" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:1064", "name": "cystinosis", "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.", "url": "https://disease-ontology.org/term/DOID:1064", "evidence": [ { "id": "1064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:7698", "name": "non-functioning pancreatic endocrine tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:7698", "evidence": [ { "id": "7698", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7698" } ], "weight": 0.0 }, { "disease_id": "DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "regulation of hematopoietic stem cell differentiation", "id": "GO:1902036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902036", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "gliogenesis", "id": "GO:0042063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042063", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "regulation of erythrocyte differentiation", "id": "GO:0045646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045646", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of monocyte differentiation", "id": "GO:0045656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045656", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "FBXO family protein binding", "id": "GO:0098770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098770", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0004693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004693", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin D2-CDK6 complex", "id": "GO:0097132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097132", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000307", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin D1-CDK6 complex", "id": "GO:0097131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097131", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" }, { "name": "cyclin D3-CDK6 complex", "id": "GO:0097133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097133", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64261-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Tyr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Thr177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Tyr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64261", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Thr325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Thr70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Arg31", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Enhanced kinase activity. Over-production of thymocytes and hematopoietic stem cells and progenitor cells.", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" }, { "database": "PubMed", "id": "21508411", "url": "https://glygen.org/publication/PubMed/21508411" } ] } ] }, { "uniprot_canonical_ac": "Q64261-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Lys43", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of kinase activity. Pronounced reduction in thymocytes and hematopoietic stem cells and progenitor cells.", "evidence": [ { "database": "UniProtKB", "id": "Q64261", "url": "https://www.uniprot.org/uniprotkb/Q64261" }, { "database": "PubMed", "id": "21508411", "url": "https://glygen.org/publication/PubMed/21508411" } ] } ] } ], "record_id": "Q64261-1" }, { "uniprot_canonical_ac": "Q03137-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 986, "chemical_mass": 109814.0, "gene_names": "Epha4;2900005C20Rik;Cek8;Epha4;Hek8;Sek1;Sek;Tyro1;rb", "protein_name": "Ephrin type-A receptor 4", "disease": [ { "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:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 } ], "biological_process": [ { "name": "deadenylation-dependent decapping of nuclear-transcribed mRNA", "id": "GO:0000290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000290", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "neuron projection guidance", "id": "GO:0097485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097485", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "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": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of GTPase activity", "id": "GO:0043087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043087", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "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": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "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": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of modification of synaptic structure", "id": "GO:1905244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905244", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of proteolysis involved in protein catabolic process", "id": "GO:1903051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903051", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "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": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "fasciculation of sensory neuron axon", "id": "GO:0097155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097155", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "fasciculation of motor neuron axon", "id": "GO:0097156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097156", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "neuron projection fasciculation", "id": "GO:0106030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106030", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "nephric duct morphogenesis", "id": "GO:0072178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072178", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "corticospinal tract morphogenesis", "id": "GO:0021957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021957", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "negative regulation of axon regeneration", "id": "GO:0048681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048681", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of astrocyte differentiation", "id": "GO:0048710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048710", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to arterial endothelial cell", "id": "GO:1904999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904999", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "regulation of synapse pruning", "id": "GO:1905806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "DH domain binding", "id": "GO:0097161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097161", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "transmembrane-ephrin receptor activity", "id": "GO:0005005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005005", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "PH domain binding", "id": "GO:0042731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042731", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "ephrin receptor activity", "id": "GO:0005003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005003", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" }, { "name": "GPI-linked ephrin receptor activity", "id": "GO:0005004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005004", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03137-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Asn235", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSCVNNSEEKDVPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 235, "start_aa": "Asn", "end_pos": 235, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn235", "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" } ] }, { "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": 235, "start_aa": "Asn", "end_pos": 235, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn235", "evidence": [ { "id": "Q03137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03137#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->HNS).", "chr_id": "1", "chr_pos": "77483305", "evidence": [ { "id": "rs3388481139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388481139" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Asn340", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63980BQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PPSAPLNLISNVNETSVNLEWSSPQNTGGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 340, "start_aa": "Asn", "end_pos": 340, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn340", "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" } ] }, { "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": 340, "start_aa": "Asn", "end_pos": 340, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn340", "evidence": [ { "id": "Q03137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03137#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Asn408", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 408, "start_aa": "Asn", "end_pos": 408, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn408", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2295", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2295" } ] }, { "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": 408, "start_aa": "Asn", "end_pos": 408, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn408", "evidence": [ { "id": "Q03137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03137#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "876", "end_pos": "876", "site_lbl": "Asn876", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G73968GN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYPANEGPPSAPLNLISNVNETSVNLEWSSPQNTGGR", "relation": "attached", "comment": "reported site N44 is on non-canonical isoform A0A087WRH4-1 which maps to canonical isoform site Q03137-1:876", "icn3d_view": {}, "start_pos": 876, "start_aa": "Asn", "end_pos": 876, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn876", "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": "Q03137-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Asn931", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DNFTAAGYTTLEAVVHMSQDDLAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 931, "start_aa": "Asn", "end_pos": 931, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn931", "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": "Q03137-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Tyr596", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q03137-1", "kinase_gene_name": "Epha4", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" }, { "database": "iPTMnet", "id": "Q03137", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03137" }, { "database": "PubMed", "id": "8622893", "url": "https://glygen.org/publication/PubMed/8622893" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Tyr602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q03137-1", "kinase_gene_name": "Epha4", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" }, { "database": "iPTMnet", "id": "Q03137", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03137" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" }, { "database": "iPTMnet", "id": "Q03137", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03137" }, { "database": "PubMed", "id": "24658113", "url": "https://glygen.org/publication/PubMed/24658113" }, { "database": "PubMed", "id": "31814004", "url": "https://glygen.org/publication/PubMed/31814004" }, { "database": "PubMed", "id": "8622893", "url": "https://glygen.org/publication/PubMed/8622893" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Tyr779", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Tyr928", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Lys102", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "1", "chr_pos": "77483702", "evidence": [ { "id": "rs3388483211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388483211" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ile67", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IRT->NRT).", "chr_id": "1", "chr_pos": "77483808", "evidence": [ { "id": "rs50937700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50937700" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "889", "end_pos": "889", "site_lbl": "Lys889", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "1", "chr_pos": "77354074", "evidence": [ { "id": "rs1131754272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131754272" } ] } ] }, { "uniprot_canonical_ac": "Q03137-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Val635", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Kinase dead; loss of autophosphorylation and loss of CHN1 phosphorylation. No effect on interaction with NGEF.", "evidence": [ { "database": "UniProtKB", "id": "Q03137", "url": "https://www.uniprot.org/uniprotkb/Q03137" }, { "database": "PubMed", "id": "17785183", "url": "https://glygen.org/publication/PubMed/17785183" }, { "database": "PubMed", "id": "11336673", "url": "https://glygen.org/publication/PubMed/11336673" } ] } ] } ], "record_id": "Q03137-1" }, { "uniprot_canonical_ac": "Q64314-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 382, "chemical_mass": 40983.0, "gene_names": "Cd34;Cd34", "protein_name": "Hematopoietic progenitor cell antigen CD34", "disease": [ { "disease_id": "DOID:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "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 } ], "biological_process": [ { "name": "negative regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "mesangial cell-matrix adhesion", "id": "GO:0035759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035759", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "positive regulation of granulocyte colony-stimulating factor production", "id": "GO:0071657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071657", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "extracellular exosome assembly", "id": "GO:0071971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071971", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "glomerular endothelium development", "id": "GO:0072011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072011", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "metanephric glomerular mesangial cell differentiation", "id": "GO:0072254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072254", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "glomerular endothelium fenestra", "id": "GO:0036053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036053", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" }, { "name": "sulfate binding", "id": "GO:0043199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043199", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64314-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Asn144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 144, "start_aa": "Asn", "end_pos": 144, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn144", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Asn145", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "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": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Asn359", "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": "GAQENGTGQATSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 359, "start_aa": "Asn", "end_pos": 359, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn359", "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": "Q64314-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Asn56", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q64314", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64314#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Tyr326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q64314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64314" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Tyr336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q64314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64314" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64314", "url": "https://www.uniprot.org/uniprotkb/Q64314" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64314", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64314" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSR); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194631806", "evidence": [ { "id": "rs3388527508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527508" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Pro111", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194631696", "evidence": [ { "id": "rs3388520628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388520628" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Pro116", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194631711", "evidence": [ { "id": "rs241973137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241973137" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Gly185", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194633293", "evidence": [ { "id": "rs3388525166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525166" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ile186", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194633296", "evidence": [ { "id": "rs3388526997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526997" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Val18", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194621325", "evidence": [ { "id": "rs3388527062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527062" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Val235", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194640839", "evidence": [ { "id": "rs3388526613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526613" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Leu244", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194640867", "evidence": [ { "id": "rs3388527044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527044" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Met257", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194641141", "evidence": [ { "id": "rs3388520647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388520647" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Val296", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194641461", "evidence": [ { "id": "rs3388529152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529152" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194641486", "evidence": [ { "id": "rs3388525226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525226" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642291", "evidence": [ { "id": "rs3388526676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526676" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Pro340", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642298", "evidence": [ { "id": "rs3388525043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525043" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Pro344", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642311", "evidence": [ { "id": "rs3388526119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526119" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ala34", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630168", "evidence": [ { "id": "rs3388523596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388523596" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Val352", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642334", "evidence": [ { "id": "rs3388525174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525174" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Arg373", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642397", "evidence": [ { "id": "rs3388527583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527583" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Gln374", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194642401", "evidence": [ { "id": "rs3388527843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527843" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630212", "evidence": [ { "id": "rs3388523659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388523659" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Pro45", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630201", "evidence": [ { "id": "rs257294831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257294831" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630212", "evidence": [ { "id": "rs3388523659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388523659" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Tyr71", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630278", "evidence": [ { "id": "rs3388522978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388522978" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Asp73", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630286", "evidence": [ { "id": "rs220344219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220344219" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Pro79", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194630302", "evidence": [ { "id": "rs3388526197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526197" } ] } ] }, { "uniprot_canonical_ac": "Q64314-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ile94", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "194631647", "evidence": [ { "id": "rs3388527498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527498" } ] } ] } ], "record_id": "Q64314-1" }, { "uniprot_canonical_ac": "C6KI89-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1145, "chemical_mass": 131417.0, "gene_names": "Catsperg2;1700067C01Rik;CATSPERG;Catsperg2;Catsperg", "protein_name": "Cation channel sperm-associated auxiliary subunit gamma 2", "disease": [], "cellular_component": [ { "name": "CatSper complex", "id": "GO:0036128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036128", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "C6KI89", "url": "https://www.uniprot.org/uniprotkb/C6KI89" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "Asn1038", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1038, "start_aa": "Asn", "end_pos": 1038, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1038", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "7", "chr_pos": "29397496", "evidence": [ { "id": "rs585154270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585154270" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "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": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "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": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Asn356", "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": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Asn402", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9UBW&bu=0&command=select+.F:402;+center+selection;+zoom+selection" }, "start_pos": 402, "start_aa": "Asn", "end_pos": 402, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn402", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBW|F|402", "database": "", "url": "" }, { "id": "9UBW|f|402", "database": "", "url": "" }, { "id": "9UBX|s|402", "database": "", "url": "" }, { "id": "9UBX|f|402", "database": "", "url": "" }, { "id": "9UBX|F|402", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asn672", "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": 672, "start_aa": "Asn", "end_pos": 672, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn672", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Asn743", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 743, "start_aa": "Asn", "end_pos": 743, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn743", "evidence": [ { "id": "C6KI89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C6KI89#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "1045", "end_pos": "1045", "site_lbl": "Lys1045", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "7", "chr_pos": "29397473", "evidence": [ { "id": "rs3388889160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388889160" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "632", "end_pos": "632", "site_lbl": "His632", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HTC->NTC).", "chr_id": "7", "chr_pos": "29406003", "evidence": [ { "id": "rs48816043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48816043" } ] } ] }, { "uniprot_canonical_ac": "C6KI89-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Thr674", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNT->NNI).", "chr_id": "7", "chr_pos": "29405876", "evidence": [ { "id": "rs3388871365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388871365" } ] } ] } ], "record_id": "C6KI89-1" }, { "uniprot_canonical_ac": "Q8K389-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1822, "chemical_mass": 205945.0, "gene_names": "Cdk5rap2;2900018K03Rik;Cdk5rap2;Kiaa1633;an;mKIAA1633", "protein_name": "CDK5 regulatory subunit-associated protein 2", "disease": [ { "disease_id": "DOID:0050569", "name": "Seckel syndrome", "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:0050569", "evidence": [ { "id": "0050569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050569" } ], "weight": 0.0 }, { "disease_id": "DOID:0070286", "name": "primary autosomal recessive microcephaly 3", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.", "url": "https://disease-ontology.org/term/DOID:0070286", "evidence": [ { "id": "0070286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070286" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "gamma-tubulin ring complex", "id": "GO:0000931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000931", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" } ], "biological_process": [ { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "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": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090266", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "negative regulation of centriole replication", "id": "GO:0046600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046600", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "microtubule organizing center organization", "id": "GO:0031023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031023", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1195", "end_pos": "1195", "site_lbl": "Thr1195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K389", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Ser1243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Ser1245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K389", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1497", "end_pos": "1497", "site_lbl": "Ser1497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K389", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1592", "end_pos": "1592", "site_lbl": "Ser1592", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1595", "end_pos": "1595", "site_lbl": "Ser1595", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "1822", "end_pos": "1822", "site_lbl": "Ser1822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ser485", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K389", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K389" } ] } ] }, { "uniprot_canonical_ac": "Q8K389-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K389", "url": "https://www.uniprot.org/uniprotkb/Q8K389" } ] } ] } ], "record_id": "Q8K389-1" }, { "uniprot_canonical_ac": "P24807-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 76, "chemical_mass": 7797.0, "gene_names": "Cd24a;Cd24;Cd24a;Cd24;HSA;Ly-52;nectadrin", "protein_name": "Signal transducer CD24", "disease": [ { "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "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": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "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": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "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": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "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": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "regulation of cytokine-mediated signaling pathway", "id": "GO:0001959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001959", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "B cell receptor transport into membrane raft", "id": "GO:0032597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032597", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "chemokine receptor transport out of membrane raft", "id": "GO:0032600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032600", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta3 production", "id": "GO:0032913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032913", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "glomerular parietal epithelial cell differentiation", "id": "GO:0072139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072139", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "positive regulation of nephron tubule epithelial cell differentiation", "id": "GO:2000768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000768", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "response to molecule of bacterial origin", "id": "GO:0002237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002237", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "podocyte differentiation", "id": "GO:0072112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072112", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "cell activation", "id": "GO:0001775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001775", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "respiratory burst", "id": "GO:0045730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045730", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response to wounding", "id": "GO:0106016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106016", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to wounding", "id": "GO:0106015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106015", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "protein tyrosine kinase activator activity", "id": "GO:0030296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030296", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "P24807", "url": "https://www.uniprot.org/uniprotkb/P24807" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P24807-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asn27", "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": 27, "start_aa": "Asn", "end_pos": 27, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn27", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 30, "start_aa": "Ser", "end_pos": 30, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser30", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "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": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 41, "start_aa": "Ser", "end_pos": 41, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 43, "start_aa": "Ser", "end_pos": 43, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser43", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "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": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] }, { "uniprot_canonical_ac": "P24807-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Thr51", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 51, "start_aa": "Thr", "end_pos": 51, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr51", "evidence": [ { "id": "P24807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24807#ptm_processing" }, { "id": "1530634", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1530634" } ] } ] } ], "record_id": "P24807-1" }, { "uniprot_canonical_ac": "O88693-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 394, "chemical_mass": 44839.0, "gene_names": "Ugcg;Epcs21;GlcT-1;Ugcgl;Ugcg", "protein_name": "Ceramide glucosyltransferase", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "protein lipidation", "id": "GO:0006497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006497", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "glucosylceramide biosynthetic process", "id": "GO:0006679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006679", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "cornified envelope assembly", "id": "GO:1903575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903575", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "leptin-mediated signaling pathway", "id": "GO:0033210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033210", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" }, { "name": "intestinal lipid absorption", "id": "GO:0098856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098856", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" } ], "molecular_function": [ { "name": "ceramide glucosyltransferase activity", "id": "GO:0008120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008120", "evidence": [ { "database": "UniProtKB", "id": "O88693", "url": "https://www.uniprot.org/uniprotkb/O88693" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88693-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Thr155", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59213883", "evidence": [ { "id": "rs3388688492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688492" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Gln160", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59213898", "evidence": [ { "id": "rs3394313111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394313111" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Asp314", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59219604", "evidence": [ { "id": "rs3542291517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542291517" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Cys323", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59219632", "evidence": [ { "id": "rs3542311463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542311463" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ala352", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59220263", "evidence": [ { "id": "rs3388687970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687970" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asp370", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59220317", "evidence": [ { "id": "rs6211008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6211008" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ile373", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59220325", "evidence": [ { "id": "rs3388681870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681870" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Arg383", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59220356", "evidence": [ { "id": "rs3542278573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542278573" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ala388", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59220370", "evidence": [ { "id": "rs3542281546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542281546" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Leu59", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59207838", "evidence": [ { "id": "rs3388688296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688296" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Leu76", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59207888", "evidence": [ { "id": "rs3388681816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681816" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asp77", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59207893", "evidence": [ { "id": "rs3388678813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678813" } ] } ] }, { "uniprot_canonical_ac": "O88693-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asp91", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "59211906", "evidence": [ { "id": "rs3394298230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394298230" } ] } ] } ], "record_id": "O88693-1" }, { "uniprot_canonical_ac": "Q9QY96-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1079, "chemical_mass": 120903.0, "gene_names": "Casr;CaR;Casr;Gprc2a", "protein_name": "Extracellular calcium-sensing receptor", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060700", "name": "familial hypocalciuric hypercalcemia 1", "description": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0060700", "evidence": [ { "id": "0060700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080652", "evidence": [ { "id": "0080652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ], "weight": 0.0 }, { "disease_id": "DOID:0090107", "name": "autosomal dominant hypocalcemia 1", "description": "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0090107", "evidence": [ { "id": "0090107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090107" } ], "weight": 0.0 }, { "disease_id": "DOID:0090109", "name": "autosomal dominant hypocalcemia", "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.", "url": "https://disease-ontology.org/term/DOID:0090109", "evidence": [ { "id": "0090109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090109" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "weight": 0.0 }, { "disease_id": "DOID:12678", "name": "hypercalcemia", "description": "", "url": "https://disease-ontology.org/term/DOID:12678", "evidence": [ { "id": "12678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12678" } ], "weight": 0.0 }, { "disease_id": "DOID:13543", "name": "hyperparathyroidism", "description": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.", "url": "https://disease-ontology.org/term/DOID:13543", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "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:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" } ], "biological_process": [ { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "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": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "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": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to peptide", "id": "GO:1901653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901653", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "detection of calcium ion", "id": "GO:0005513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005513", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "response to fibroblast growth factor", "id": "GO:0071774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071774", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "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": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "bile acid secretion", "id": "GO:0032782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032782", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "regulation of presynaptic membrane potential", "id": "GO:0099505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099505", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway", "id": "GO:0140582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140582", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" }, { "name": "amino acid binding", "id": "GO:0016597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016597", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Asn261", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 261, "start_aa": "Asn", "end_pos": 261, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn261", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Asn287", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 287, "start_aa": "Asn", "end_pos": 287, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn287", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Asn386", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLNSSTAFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 386, "start_aa": "Asn", "end_pos": 386, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn386", "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" } ] }, { "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": 386, "start_aa": "Asn", "end_pos": 386, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn386", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Asn446", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLFTNGSCADIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 446, "start_aa": "Asn", "end_pos": 446, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn446", "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" } ] }, { "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": 446, "start_aa": "Asn", "end_pos": 446, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn446", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Asn468", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Asn488", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 488, "start_aa": "Asn", "end_pos": 488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn488", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Asn541", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVPFSNCSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 541, "start_aa": "Asn", "end_pos": 541, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "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" } ] }, { "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": 541, "start_aa": "Asn", "end_pos": 541, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Asn594", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 594, "start_aa": "Asn", "end_pos": 594, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn594", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Asn90", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "Q9QY96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QY96#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "1062", "end_pos": "1062", "site_lbl": "Ser1062", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY96", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY96" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Thr888", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Ser920", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY96", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY96" } ] } ] }, { "uniprot_canonical_ac": "Q9QY96-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Leu723", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "In nuclear flecks (Nuf) mutant; gain-of-function mutant; mice develop cataracts and display ectopic calcification.", "evidence": [ { "database": "UniProtKB", "id": "Q9QY96", "url": "https://www.uniprot.org/uniprotkb/Q9QY96" }, { "database": "PubMed", "id": "15347804", "url": "https://glygen.org/publication/PubMed/15347804" } ] } ] } ], "record_id": "Q9QY96-1" }, { "uniprot_canonical_ac": "P27548-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 260, "chemical_mass": 29370.0, "gene_names": "Cd40lg;CD154;CD40-L;Cd40lg;Cd40l;HIGM1;IGM;IMD3;Ly-62;Ly62;T-BAM;TRAP;Tnfsf5;Tnlg8b;gp39", "protein_name": "CD40 ligand", "disease": [ { "disease_id": "DOID:0050169", "name": "cutaneous lupus erythematosus", "description": "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.", "url": "https://disease-ontology.org/term/DOID:0050169", "evidence": [ { "id": "0050169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050169" } ], "weight": 0.0 }, { "disease_id": "DOID:0050175", "name": "tick-borne encephalitis", "description": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.", "url": "https://disease-ontology.org/term/DOID:0050175", "evidence": [ { "id": "0050175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050175" } ], "weight": 0.0 }, { "disease_id": "DOID:0050185", "name": "erythema multiforme", "description": "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.", "url": "https://disease-ontology.org/term/DOID:0050185", "evidence": [ { "id": "0050185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050185" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050731", "name": "vitamin B12 deficiency", "description": "A vitamin metabolic disorder that results from low blood levels of vitamin B12.", "url": "https://disease-ontology.org/term/DOID:0050731", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ], "weight": 0.0 }, { "disease_id": "DOID:0050873", "name": "follicular lymphoma", "description": "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).", "url": "https://disease-ontology.org/term/DOID:0050873", "evidence": [ { "id": "0050873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050873" } ], "weight": 0.0 }, { "disease_id": "DOID:0060022", "name": "CD40 ligand deficiency", "description": "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.", "url": "https://disease-ontology.org/term/DOID:0060022", "evidence": [ { "id": "0060022", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060022" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070355", "name": "overactive bladder syndrome", "description": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.", "url": "https://disease-ontology.org/term/DOID:0070355", "evidence": [ { "id": "0070355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070355" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "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:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11702", "name": "dysgammaglobulinemia", "description": "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.", "url": "https://disease-ontology.org/term/DOID:11702", "evidence": [ { "id": "11702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11702" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "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:13133", "name": "HELLP syndrome", "description": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.", "url": "https://disease-ontology.org/term/DOID:13133", "evidence": [ { "id": "13133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13133" } ], "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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3388", "name": "periodontal disease", "description": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.", "url": "https://disease-ontology.org/term/DOID:3388", "evidence": [ { "id": "3388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3388" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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: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:5050", "name": "Ehrlich tumor carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5050", "evidence": [ { "id": "5050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5050" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "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:628", "name": "combined T cell and B cell immunodeficiency", "description": "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.", "url": "https://disease-ontology.org/term/DOID:628", "evidence": [ { "id": "628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:628" } ], "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 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "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:8986", "name": "narcolepsy", "description": "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.", "url": "https://disease-ontology.org/term/DOID:8986", "evidence": [ { "id": "8986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8986" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of dendritic cell differentiation", "id": "GO:2001200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001200", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "regulation of immunoglobulin production", "id": "GO:0002637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002637", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "CD40 signaling pathway", "id": "GO:0023035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023035", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "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": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "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": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "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": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4 production", "id": "GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "positive regulation of immune response to tumor cell", "id": "GO:0002839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002839", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "CD40 receptor binding", "id": "GO:0005174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005174", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P27548", "url": "https://www.uniprot.org/uniprotkb/P27548" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27548-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Asn239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "P27548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27548#ptm_processing" } ] } ] } ], "record_id": "P27548-1" }, { "uniprot_canonical_ac": "Q8CH18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1146, "chemical_mass": 132060.0, "gene_names": "Ccar1;2610511G16Rik;9430036H15Rik;Carp1;Ccar1", "protein_name": "Cell division cycle and apoptosis regulator protein 1", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "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": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "1113", "end_pos": "1113", "site_lbl": "Asn1113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01937VC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSTVMDDIHTVLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1113, "start_aa": "Asn", "end_pos": 1113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1113", "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": "Q8CH18-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Ser453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] }, { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Thr624", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] }, { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Thr664", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] }, { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Ser682", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] }, { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Ser694", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] }, { "uniprot_canonical_ac": "Q8CH18-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Thr858", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CH18", "url": "https://www.uniprot.org/uniprotkb/Q8CH18" } ] } ] } ], "record_id": "Q8CH18-1" }, { "uniprot_canonical_ac": "Q9JIG7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 627, "chemical_mass": 70844.0, "gene_names": "Ccdc22;Ccdc22;DXImx40e;Ppp1r3f;Sfc22", "protein_name": "Coiled-coil domain-containing protein 22", "disease": [ { "disease_id": "DOID:0060572", "name": "Ritscher-Schinzel syndrome 2", "description": "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060572", "evidence": [ { "id": "0060572", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060572" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of plasma lipoprotein particle levels", "id": "GO:0097006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097006", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "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": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" } ], "molecular_function": [ { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIG7-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIG7", "url": "https://www.uniprot.org/uniprotkb/Q9JIG7" } ] } ] } ], "record_id": "Q9JIG7-1" }, { "uniprot_canonical_ac": "P06745-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 558, "chemical_mass": 62767.0, "gene_names": "Gpi1;Gpi;Amf;Gpi-1r;Gpi-1s;Gpi-1t;Gpi-1;Gpi1-r;Gpi1-s;Gpi1-t;Gpi1s;Gpi1;Gpi;MF;NK/GPI;NK;Nlk;Org;Pgi;Phi", "protein_name": "Glucose-6-phosphate isomerase", "disease": [ { "disease_id": "DOID:0051005", "name": "congenital nonspherocytic hemolytic anemia 4", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0051005", "evidence": [ { "id": "0051005", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051005" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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: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:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "weight": 0.0 }, { "disease_id": "DOID:440", "name": "neuromuscular disease", "description": "A neuropathy that affect the nerves that control the voluntary muscles.", "url": "https://disease-ontology.org/term/DOID:440", "evidence": [ { "id": "440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:440" } ], "weight": 0.0 }, { "disease_id": "DOID:589", "name": "congenital hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:589", "evidence": [ { "id": "589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:589" } ], "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: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": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" } ], "biological_process": [ { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "glucose-6-phosphate isomerase activity", "id": "GO:0004347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004347", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "racemase and epimerase activity, acting on carbohydrates and derivatives", "id": "GO:0016857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016857", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "carbohydrate derivative binding", "id": "GO:0097367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097367", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" }, { "name": "glucose-6-phosphate 1-epimerase activity", "id": "GO:0047938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047938", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06745-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INYTENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "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": "P06745-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P06745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06745", "url": "https://www.uniprot.org/uniprotkb/P06745" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "100", "end_pos": "100", "site_lbl": "His100", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33926646", "evidence": [ { "id": "rs3388898749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898749" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Lys142", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33920330", "evidence": [ { "id": "rs3388901349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901349" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Gly143", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33920326", "evidence": [ { "id": "rs3388893239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893239" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Gly156", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33920287_33920288insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388897715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388897715" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Glu15", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33929596", "evidence": [ { "id": "rs13473576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473576" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ile192", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33920097", "evidence": [ { "id": "rs3388903063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903063" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33920062", "evidence": [ { "id": "rs3388900388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388900388" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Thr218", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33918509", "evidence": [ { "id": "rs3388883493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883493" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ala222", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33918496", "evidence": [ { "id": "rs3388901331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901331" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Lys25", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33907152", "evidence": [ { "id": "rs3388883533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883533" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Gln261", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33915402", "evidence": [ { "id": "rs3388859912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388859912" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Trp267", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33915384", "evidence": [ { "id": "rs3388888077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388888077" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Glu294", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33907310_33907311insTTTGTGTCACAGGTTTTGACCACTTCGAGCAG", "evidence": [ { "id": "rs3397597127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397597127" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Lys314", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33907152", "evidence": [ { "id": "rs3388883533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883533" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ala316", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33907146", "evidence": [ { "id": "rs32486404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32486404" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Asp356", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905355", "evidence": [ { "id": "rs3388893274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893274" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Met357", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905354_33905355insACCTCAACCA", "evidence": [ { "id": "rs3388891456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388891456" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905347", "evidence": [ { "id": "rs3388888023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388888023" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Asn360", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905343", "evidence": [ { "id": "rs3388893219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893219" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Asp372", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905308", "evidence": [ { "id": "rs3388898756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898756" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905308", "evidence": [ { "id": "rs3388898756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898756" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Pro403", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905054", "evidence": [ { "id": "rs3388891481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388891481" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Glu443", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33903523", "evidence": [ { "id": "rs3388881152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881152" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Trp513", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33902064", "evidence": [ { "id": "rs3388893243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893243" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Val53", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905313", "evidence": [ { "id": "rs32484647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32484647" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33901876", "evidence": [ { "id": "rs3388881073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881073" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Gln66", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33905274", "evidence": [ { "id": "rs3388900309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388900309" } ] } ] }, { "uniprot_canonical_ac": "P06745-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "33926662", "evidence": [ { "id": "rs32489703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32489703" } ] } ] } ], "record_id": "P06745-1" }, { "uniprot_canonical_ac": "Q9QUK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 288, "chemical_mass": 33109.0, "gene_names": "Cln8;Cln8;Tlcd6;mnd", "protein_name": "Protein CLN8", "disease": [ { "disease_id": "DOID:0110723", "name": "neuronal ceroid lipofuscinosis 8", "description": "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.", "url": "https://disease-ontology.org/term/DOID:0110723", "evidence": [ { "id": "0110723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110723" } ], "weight": 0.0 }, { "disease_id": "DOID:0110724", "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "description": "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.", "url": "https://disease-ontology.org/term/DOID:0110724", "evidence": [ { "id": "0110724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110724" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "musculoskeletal movement", "id": "GO:0050881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050881", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "ceramide metabolic process", "id": "GO:0006672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006672", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "somatic motor neuron differentiation", "id": "GO:0021523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021523", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "glutamate reuptake", "id": "GO:0051935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051935", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" }, { "name": "mitochondrial membrane organization", "id": "GO:0007006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007006", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ceramide binding", "id": "GO:0097001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097001", "evidence": [ { "database": "UniProtKB", "id": "Q9QUK3", "url": "https://www.uniprot.org/uniprotkb/Q9QUK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QUK3-1" }, { "uniprot_canonical_ac": "Q5SV66-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 37989.0, "gene_names": "Ccdc42;A530001H01Rik;Ccdc42", "protein_name": "Coiled-coil domain-containing protein 42", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q5SV66", "url": "https://www.uniprot.org/uniprotkb/Q5SV66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SV66-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "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": 180, "start_aa": "Ser", "end_pos": 180, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser180", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q5SV66", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SV66" } ] } ] }, { "uniprot_canonical_ac": "Q5SV66-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "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": 188, "start_aa": "Ser", "end_pos": 188, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser188", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q5SV66", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SV66" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->W).", "chr_id": "11", "chr_pos": "68485050", "evidence": [ { "id": "rs3389181628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389181628" } ] } ] } ], "record_id": "Q5SV66-1" }, { "uniprot_canonical_ac": "P18581-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 657, "chemical_mass": 71856.0, "gene_names": "Slc7a2;20.5;Atrc2;CAT-2;Cat2;Slc7a2;Tea", "protein_name": "Cationic amino acid transporter 2", "disease": [ { "disease_id": "DOID:0111666", "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0111666", "evidence": [ { "id": "0111666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111666" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-ornithine transmembrane transporter activity", "id": "GO:0000064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000064", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "high-affinity L-arginine transmembrane transporter activity", "id": "GO:0005289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005289", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "high-affinity lysine transmembrane transporter activity", "id": "GO:0005292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005292", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-lysine transmembrane transporter activity", "id": "GO:0015189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015189", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "low-affinity L-arginine transmembrane transporter activity", "id": "GO:0097626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097626", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "high-affinity L-ornithine transmembrane transporter activity", "id": "GO:0097627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097627", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-arginine transmembrane transporter activity", "id": "GO:0061459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061459", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-alpha-amino acid transmembrane transport", "id": "GO:1902475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902475", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "nitric oxide production involved in inflammatory response", "id": "GO:0002537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002537", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "regulation of macrophage activation", "id": "GO:0043030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043030", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-arginine import across plasma membrane", "id": "GO:0097638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097638", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-lysine import across plasma membrane", "id": "GO:0097639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097639", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-ornithine import across plasma membrane", "id": "GO:0097640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097640", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-ornithine transmembrane transport", "id": "GO:1903352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903352", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-arginine transmembrane transport", "id": "GO:1903826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903826", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "L-amino acid transport", "id": "GO:0015807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015807", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" }, { "name": "amino acid import across plasma membrane", "id": "GO:0089718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089718", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18581-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Thr106", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 106, "start_aa": "Thr", "end_pos": 106, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr106", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asn157", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "P18581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18581#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Asn227", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 227, "start_aa": "Asn", "end_pos": 227, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn227", "evidence": [ { "id": "P18581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18581#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Asn239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "P18581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18581#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18581", "url": "https://www.uniprot.org/uniprotkb/P18581" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P18581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P18581" } ] } ] }, { "uniprot_canonical_ac": "P18581-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Ile509", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "8", "chr_pos": "41367024", "evidence": [ { "id": "rs3388932323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388932323" } ] } ] } ], "record_id": "P18581-1" }, { "uniprot_canonical_ac": "B9EJA2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1648, "chemical_mass": 178774.0, "gene_names": "Cttnbp2;3010022N24Rik;4732477G22Rik;6430526E05;9130022E09Rik;Cortbp2;Cttnbp2;Kiaa1758;ORF4;mKIAA1758", "protein_name": "Cortactin-binding protein 2", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "FAR/SIN/STRIPAK complex", "id": "GO:0090443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090443", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic actin cytoskeleton", "id": "GO:1905274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905274", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "1445", "end_pos": "1445", "site_lbl": "Asn1445", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KVNTSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1445, "start_aa": "Asn", "end_pos": 1445, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1445", "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": "B9EJA2-1", "start_pos": "1615", "end_pos": "1615", "site_lbl": "Asn1615", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G57776ZU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RNSSSSNTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1615, "start_aa": "Asn", "end_pos": 1615, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1615", "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": "B9EJA2-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 399, "start_aa": "Thr", "end_pos": 399, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr399", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Ser576", "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": 576, "start_aa": "Ser", "end_pos": 576, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser576", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "B9EJA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=B9EJA2" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ser579", "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": 579, "start_aa": "Ser", "end_pos": 579, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser579", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "B9EJA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B9EJA2" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Thr580", "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": 580, "start_aa": "Thr", "end_pos": 580, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr580", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "B9EJA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=B9EJA2" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "B9EJA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B9EJA2" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Thr633", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 633, "start_aa": "Thr", "end_pos": 633, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr633", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Thr883", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 883, "start_aa": "Thr", "end_pos": 883, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr883", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "1510", "end_pos": "1510", "site_lbl": "Ser1510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B9EJA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B9EJA2" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Pro540", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Almost complete loss of CTTN-binding and loss of regulation of spine density; when associated with A-543.", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" }, { "database": "PubMed", "id": "22262902", "url": "https://glygen.org/publication/PubMed/22262902" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Pro543", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Almost complete loss of CTTN-binding and loss of regulation of spine density; when associated with A-540.", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" }, { "database": "PubMed", "id": "22262902", "url": "https://glygen.org/publication/PubMed/22262902" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Pro599", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Reduced CTTN-binding; when associated with A-602.", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" }, { "database": "PubMed", "id": "22262902", "url": "https://glygen.org/publication/PubMed/22262902" } ] } ] }, { "uniprot_canonical_ac": "B9EJA2-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Pro602", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Reduced CTTN-binding; when associated with A-599.", "evidence": [ { "database": "UniProtKB", "id": "B9EJA2", "url": "https://www.uniprot.org/uniprotkb/B9EJA2" }, { "database": "PubMed", "id": "22262902", "url": "https://glygen.org/publication/PubMed/22262902" } ] } ] } ], "record_id": "B9EJA2-1" }, { "uniprot_canonical_ac": "Q9CY57-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 249, "chemical_mass": 26585.0, "gene_names": "Chtop;2500003M10Rik;Chtop;Fop;MNCb-1706;Srag", "protein_name": "Chromatin target of PRMT1 protein", "disease": [], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "positive regulation of helicase activity", "id": "GO:0051096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051096", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "methyl-CpG binding", "id": "GO:0008327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008327", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" }, { "name": "transcription export complex", "id": "GO:0000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000346", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CY57-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Thr243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ] } ] }, { "uniprot_canonical_ac": "Q9CY57-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ] } ] }, { "uniprot_canonical_ac": "Q9CY57-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ] } ] }, { "uniprot_canonical_ac": "Q9CY57-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CY57", "url": "https://www.uniprot.org/uniprotkb/Q9CY57" } ] } ] } ], "record_id": "Q9CY57-1" }, { "uniprot_canonical_ac": "Q3TR08-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 231, "chemical_mass": 24933.0, "gene_names": "Fndc4;2810430J06Rik;6330410H20Rik;FRCP1;Fndc4;Fnmp1;Frcp1", "protein_name": "Fibronectin type III domain-containing protein 4", "disease": [], "biological_process": [ { "name": "response to transforming growth factor beta", "id": "GO:0071559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071559", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3TR08", "url": "https://www.uniprot.org/uniprotkb/Q3TR08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TR08-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "Q3TR08", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3TR08#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3TR08-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PPSPVNVTVTHLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "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" } ] }, { "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": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "Q3TR08", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3TR08#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3TR08-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "5", "chr_pos": "31451985", "evidence": [ { "id": "rs3388744746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744746" } ] } ] } ], "record_id": "Q3TR08-1" }, { "uniprot_canonical_ac": "Q8C5L3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 540, "chemical_mass": 59711.0, "gene_names": "Cnot2;2600016M12Rik;2810470K03Rik;Cnot2", "protein_name": "CCR4-NOT transcription complex subunit 2", "disease": [], "biological_process": [ { "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": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010606", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "negative regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033147", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "CCR4-NOT complex", "id": "GO:0030014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030014", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "CCR4-NOT core complex", "id": "GO:0030015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030015", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" } ], "molecular_function": [ { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "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": 101, "start_aa": "Ser", "end_pos": 101, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser101", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "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": 108, "start_aa": "Ser", "end_pos": 108, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser108", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Thr111", "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": 111, "start_aa": "Thr", "end_pos": 111, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr111", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Thr113", "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": 113, "start_aa": "Thr", "end_pos": 113, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr113", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 113, "start_aa": "Thr", "end_pos": 113, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr113", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "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": 114, "start_aa": "Thr", "end_pos": 114, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr114", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "116342239", "evidence": [ { "id": "rs3389068168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068168" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Thr118", "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": 118, "start_aa": "Thr", "end_pos": 118, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr118", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "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": 120, "start_aa": "Ser", "end_pos": 120, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser120", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Thr123", "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": 123, "start_aa": "Thr", "end_pos": 123, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr123", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Thr155", "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": 155, "start_aa": "Thr", "end_pos": 155, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr155", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "116342239", "evidence": [ { "id": "rs3389068168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068168" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ser169", "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": 169, "start_aa": "Ser", "end_pos": 169, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser169", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C5L3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C5L3" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "10", "chr_pos": "116339960", "evidence": [ { "id": "rs3401316564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401316564" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "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": 99, "start_aa": "Ser", "end_pos": 99, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser99", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8C5L3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C5L3" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q8C5L3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C5L3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C5L3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ] } ] }, { "uniprot_canonical_ac": "Q8C5L3-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5L3", "url": "https://www.uniprot.org/uniprotkb/Q8C5L3" } ] } ] } ], "record_id": "Q8C5L3-1" }, { "uniprot_canonical_ac": "Q9WUU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1971, "chemical_mass": 217363.0, "gene_names": "Mcm3ap;GANP;Ganp;Map80;Mcm3ap", "protein_name": "Germinal-center associated nuclear protein", "disease": [], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "nucleosome organization", "id": "GO:0034728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034728", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear pore nuclear basket", "id": "GO:0044615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044615", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "transcription export complex 2", "id": "GO:0070390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070390", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" }, { "name": "histone H3 acetyltransferase activity", "id": "GO:0010484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010484", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "1033", "end_pos": "1033", "site_lbl": "Thr1033", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1033, "start_aa": "Thr", "end_pos": 1033, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1033", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "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": 13, "start_aa": "Ser", "end_pos": 13, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser13", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WUU9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "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": 18, "start_aa": "Ser", "end_pos": 18, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser18", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WUU9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9WUU9" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "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": 210, "start_aa": "Thr", "end_pos": 210, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr210", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "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": 211, "start_aa": "Ser", "end_pos": 211, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser211", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WUU9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 44, "start_aa": "Thr", "end_pos": 44, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr44", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "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": 544, "start_aa": "Ser", "end_pos": 544, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser544", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "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": 547, "start_aa": "Ser", "end_pos": 547, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser547", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9WUU9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WUU9" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Thr59", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 59, "start_aa": "Thr", "end_pos": 59, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr59", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Asn771", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INNENMTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 771, "start_aa": "Asn", "end_pos": 771, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn771", "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": "Q9WUU9-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Thr89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Thr", "end_pos": 89, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr89", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" }, { "database": "PubMed", "id": "11526238", "url": "https://glygen.org/publication/PubMed/11526238" }, { "database": "iPTMnet", "id": "Q9WUU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUU9", "url": "https://www.uniprot.org/uniprotkb/Q9WUU9" } ] } ] }, { "uniprot_canonical_ac": "Q9WUU9-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "10", "chr_pos": "76307012", "evidence": [ { "id": "rs262067159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262067159" } ] } ] } ], "record_id": "Q9WUU9-1" }, { "uniprot_canonical_ac": "Q9JL56-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 37629.0, "gene_names": "Gde1;1200003M13Rik;Gde1;Mir16;RGS16", "protein_name": "Glycerophosphodiester phosphodiesterase 1", "disease": [], "biological_process": [ { "name": "ethanolamine metabolic process", "id": "GO:0006580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006580", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "N-acylethanolamine metabolic process", "id": "GO:0070291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070291", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "phosphatidylcholine lysophospholipase activity", "id": "GO:0004622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004622", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "glycerophosphodiester phosphodiesterase activity", "id": "GO:0008889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008889", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" }, { "name": "glycerophosphoinositol glycerophosphodiesterase activity", "id": "GO:0047395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047395", "evidence": [ { "database": "UniProtKB", "id": "Q9JL56", "url": "https://www.uniprot.org/uniprotkb/Q9JL56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JL56-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HNLTIFFDVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "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" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "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": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "Q9JL56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JL56#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JL56-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2355", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ] } ] } ], "record_id": "Q9JL56-1" }, { "uniprot_canonical_ac": "Q61584-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 677, "chemical_mass": 76222.0, "gene_names": "Fxr1;1110050J02Rik;9530073J07Rik;Fxr1h;Fxr1p;Fxr1", "protein_name": "RNA-binding protein FXR1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081343", "name": "congenital myopathy 9A", "description": "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0081343", "evidence": [ { "id": "0081343", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081343" } ], "weight": 0.0 }, { "disease_id": "DOID:0081344", "name": "congenital myopathy 9B", "description": "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.", "url": "https://disease-ontology.org/term/DOID:0081344", "evidence": [ { "id": "0081344", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081344" } ], "weight": 0.0 }, { "disease_id": "DOID:14261", "name": "fragile X syndrome", "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.", "url": "https://disease-ontology.org/term/DOID:14261", "evidence": [ { "id": "14261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14261" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle organ development", "id": "GO:0060538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060538", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "cytoplasmic translational initiation", "id": "GO:0002183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002183", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "post-transcriptional regulation of gene expression", "id": "GO:0010608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010608", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "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": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "positive regulation of miRNA-mediated gene silencing", "id": "GO:2000637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000637", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic plasticity", "id": "GO:0048170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048170", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "nuclear pore complex assembly", "id": "GO:0051292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051292", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "negative regulation of mRNA catabolic process", "id": "GO:1902373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902373", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of translation at presynapse, modulating synaptic transmission", "id": "GO:0099577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099577", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "ribonucleoprotein granule", "id": "GO:0035770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035770", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "intracellular membraneless organelle", "id": "GO:0043232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043232", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "G-quadruplex RNA binding", "id": "GO:0002151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002151", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "RNA strand annealing activity", "id": "GO:0033592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033592", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61584-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asn423", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G37399XV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPNYTSGYGTNSELSNPSETESER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 423, "start_aa": "Asn", "end_pos": 423, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn423", "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": "Q61584-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Thr592", "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": 592, "start_aa": "Thr", "end_pos": 592, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr592", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61584", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61584" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 592, "start_aa": "Thr", "end_pos": 592, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr592", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Thr398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "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": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Ser449", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ser452", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Thr512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Ser514", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ser553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Ser643", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Thr667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Tyr68", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q61584", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61584" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Arg532", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRS).", "chr_id": "3", "chr_pos": "34118372", "evidence": [ { "id": "rs3392770232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392770232" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Leu351", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Abolished ability to undergo liquid-liquid phase separation and promote translation of target mRNAs. Male infertility in knokin mice.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "35951695", "url": "https://glygen.org/publication/PubMed/35951695" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Ser426", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Ser525", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Thr551", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] }, { "uniprot_canonical_ac": "Q61584-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation by GSK3B.", "evidence": [ { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprotkb/Q61584" }, { "database": "PubMed", "id": "26240334", "url": "https://glygen.org/publication/PubMed/26240334" } ] } ] } ], "record_id": "Q61584-1" }, { "uniprot_canonical_ac": "P97288-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 388, "chemical_mass": 43962.0, "gene_names": "Htr4;5-HT-4;5-HT4;5-HT<4L>;5HTR4;Htr4", "protein_name": "5-hydroxytryptamine receptor 4", "disease": [ { "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: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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "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": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "maintenance of gastrointestinal epithelium", "id": "GO:0030277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030277", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting serotonin receptor signaling pathway", "id": "GO:0007198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007198", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "mucus secretion", "id": "GO:0070254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070254", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "adenylate cyclase-activating serotonin receptor signaling pathway", "id": "GO:0007192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007192", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "large intestinal transit", "id": "GO:0120056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120056", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "system process", "id": "GO:0003008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003008", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor activity", "id": "GO:0004993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004993", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "P97288", "url": "https://www.uniprot.org/uniprotkb/P97288" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97288-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Asn7", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 7, "start_aa": "Asn", "end_pos": 7, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn7", "evidence": [ { "id": "P97288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97288#ptm_processing" } ] } ] } ], "record_id": "P97288-1" }, { "uniprot_canonical_ac": "O89110-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 480, "chemical_mass": 55357.0, "gene_names": "Casp8;CASP-8;Casp8;FLICE;MACH;Mch5", "protein_name": "Caspase-8", "disease": [ { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0110116", "name": "autoimmune lymphoproliferative syndrome type 2B", "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0110116", "evidence": [ { "id": "0110116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110116" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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: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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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: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 }, { "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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: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:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "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 } ], "biological_process": [ { "name": "regulation of apoptotic signaling pathway", "id": "GO:2001233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001233", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "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": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "TRAIL-activated apoptotic signaling pathway", "id": "GO:0036462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036462", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "regulation of thymocyte apoptotic process", "id": "GO:0070243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070243", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "neural tube formation", "id": "GO:0001841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001841", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "positive regulation of pyroptotic inflammatory response", "id": "GO:0140639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140639", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity involved in apoptotic process", "id": "GO:0008656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008656", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "death effector domain binding", "id": "GO:0035877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035877", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "death receptor binding", "id": "GO:0005123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005123", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "CD95 death-inducing signaling complex", "id": "GO:0031265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031265", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "ripoptosome", "id": "GO:0097342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097342", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "death-inducing signaling complex", "id": "GO:0031264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031264", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "Noc1p-Noc2p complex", "id": "GO:0030690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030690", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" }, { "name": "caspase complex", "id": "GO:0008303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008303", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O89110-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "O89110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89110" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "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": "O89110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89110" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Tyr336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Asp212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of autocatalytic cleavage; when associated with A-218; A-225 and A-387.", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asp218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of autocatalytic cleavage; when associated with A-212; A-225 and A-387.", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asp225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of autocatalytic cleavage; when associated with A-212; A-218 and A-387.", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Cys362", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of kinase activity. Knockin mice show embryonic lethality caused by endothelial cell necroptosis leading to cardiovascular defects. Mlkl deficiency rescues the cardiovascular phenotype of knockin mice, but causes perinatal lethality caused by induction of pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "31748744", "url": "https://glygen.org/publication/PubMed/31748744" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "O89110-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asp387", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of autocatalytic cleavage; when associated with A-212; A-218 and A-225.", "evidence": [ { "database": "UniProtKB", "id": "O89110", "url": "https://www.uniprot.org/uniprotkb/O89110" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] } ], "record_id": "O89110-1" }, { "uniprot_canonical_ac": "Q08857-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 472, "chemical_mass": 52698.0, "gene_names": "Cd36;Cd36;FAT;GPIV;Scarb3", "protein_name": "Platelet glycoprotein 4", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening 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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "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: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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid transport across blood-brain barrier", "id": "GO:1990379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990379", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "regulation of action potential", "id": "GO:0098900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098900", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to bacterial lipopeptide", "id": "GO:0071221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071221", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "regulation of toll-like receptor signaling pathway", "id": "GO:0034121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034121", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "long-chain fatty acid import into cell", "id": "GO:0044539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044539", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "triglyceride transport", "id": "GO:0034197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034197", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to linoleic acid", "id": "GO:0070543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070543", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cholesterol import", "id": "GO:0070508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070508", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to hydroperoxide", "id": "GO:0071447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071447", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of cholesterol storage", "id": "GO:0010886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010886", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "long-chain fatty acid transport", "id": "GO:0015909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015909", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "plasma lipoprotein particle clearance", "id": "GO:0034381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034381", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050909", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "low-density lipoprotein particle mediated signaling", "id": "GO:0055096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055096", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to diacyl bacterial lipopeptide", "id": "GO:0071726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071726", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of blood microparticle formation", "id": "GO:2000334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000334", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "long-chain fatty acid import across plasma membrane", "id": "GO:0015911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015911", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "positive regulation of triglyceride metabolic process", "id": "GO:0090208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090208", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "oxidised low-density lipoprotein particle clearance", "id": "GO:0150024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150024", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "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": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "short-chain fatty acid transport", "id": "GO:0015912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015912", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" } ], "molecular_function": [ { "name": "oleic acid binding", "id": "GO:0070538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070538", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "long-chain fatty acid transmembrane transporter activity", "id": "GO:0005324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005324", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "low-density lipoprotein particle binding", "id": "GO:0030169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030169", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "Toll-like receptor binding", "id": "GO:0035325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035325", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "thrombospondin receptor activity", "id": "GO:0070053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070053", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "lipoteichoic acid immune receptor activity", "id": "GO:0070892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070892", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "short-chain fatty acid transmembrane transporter activity", "id": "GO:0015636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015636", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "oxidised low-density lipoprotein particle receptor activity", "id": "GO:0150025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150025", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "oleate transmembrane transporter activity", "id": "GO:1901480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901480", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q08857", "url": "https://www.uniprot.org/uniprotkb/Q08857" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08857-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Asn134", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 134, "start_aa": "Asn", "end_pos": 134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asn205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2588", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2588" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2588", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2588" } ] }, { "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": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Asn235", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 235, "start_aa": "Asn", "end_pos": 235, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn235", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Asn247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 247, "start_aa": "Asn", "end_pos": 247, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn247", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Asn321", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VISNNCTSYGVLDIGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 321, "start_aa": "Asn", "end_pos": 321, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn321", "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" } ] }, { "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": 321, "start_aa": "Asn", "end_pos": 321, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn321", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05049YU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PYIVPILWLNETGTIGDEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "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" } ] }, { "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": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08857-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Asn79", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "evidence": [ { "id": "Q08857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08857#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "5", "chr_pos": "18025482", "evidence": [ { "id": "rs3388731331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731331" } ] } ] } ], "record_id": "Q08857-1" }, { "uniprot_canonical_ac": "P30658-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 519, "chemical_mass": 54918.0, "gene_names": "Cbx2;Cbx2;M33;MOD2;pc", "protein_name": "Chromobox protein homolog 2", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0111776", "name": "46,XY sex reversal 5", "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.", "url": "https://disease-ontology.org/term/DOID:0111776", "evidence": [ { "id": "0111776", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111776" } ], "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 } ], "biological_process": [ { "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": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "development of primary sexual characteristics", "id": "GO:0045137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045137", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "histone H3K9me2/3 reader activity", "id": "GO:0062072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062072", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" }, { "name": "PRC1 complex", "id": "GO:0035102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035102", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P30658-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Thr384", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 384, "start_aa": "Thr", "end_pos": 384, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr384", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P30658-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ser303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P30658", "url": "https://www.uniprot.org/uniprotkb/P30658" } ] } ] }, { "uniprot_canonical_ac": "P30658-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P30658", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30658" }, { "database": "PubMed", "id": "20493168", "url": "https://glygen.org/publication/PubMed/20493168" } ] } ] } ], "record_id": "P30658-1" }, { "uniprot_canonical_ac": "Q6PB51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 277, "chemical_mass": 30427.0, "gene_names": "Ccdc117;1110004K02Rik;1700026O03Rik;Ccdc117", "protein_name": "Coiled-coil domain-containing protein 117", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PB51-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PB51", "url": "https://www.uniprot.org/uniprotkb/Q6PB51" } ] } ] } ], "record_id": "Q6PB51-1" }, { "uniprot_canonical_ac": "Q9D6Y1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 31093.0, "gene_names": "Ccdc3;2310045O21Rik;Ccdc3", "protein_name": "Coiled-coil domain-containing protein 3", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "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": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" }, { "name": "negative regulation of lipid biosynthetic process", "id": "GO:0051055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051055", "evidence": [ { "database": "UniProtKB", "id": "Q9D6Y1", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6Y1-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "Q9D6Y1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D6Y1#ptm_processing" }, { "id": "20043878", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20043878" } ] } ] } ], "record_id": "Q9D6Y1-1" }, { "uniprot_canonical_ac": "Q9JJV3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJV3", "url": "https://www.uniprot.org/uniprotkb/Q9JJV3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 23230.0, "gene_names": "Tmem37;Cacng5;Pr1;Pr;Tmem37", "protein_name": "Voltage-dependent calcium channel gamma-like subunit", "disease": [], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV3", "url": "https://www.uniprot.org/uniprotkb/Q9JJV3" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity", "id": "GO:0005244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV3", "url": "https://www.uniprot.org/uniprotkb/Q9JJV3" } ], "pmid": "" } ], "cellular_component": [ { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q9JJV3", "url": "https://www.uniprot.org/uniprotkb/Q9JJV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JJV3-1" }, { "uniprot_canonical_ac": "Q9JLQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 637, "chemical_mass": 70450.0, "gene_names": "Cd2ap;Cd2ap;METS-1;Mets1", "protein_name": "CD2-associated protein", "disease": [ { "disease_id": "DOID:0112245", "name": "focal segmental glomerulosclerosis 3", "description": "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.", "url": "https://disease-ontology.org/term/DOID:0112245", "evidence": [ { "id": "0112245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112245" } ], "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:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:680", "name": "tauopathy", "description": "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.", "url": "https://disease-ontology.org/term/DOID:680", "evidence": [ { "id": "680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:680" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to transforming growth factor beta", "id": "GO:0071559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071559", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "negative regulation of small GTPase mediated signal transduction", "id": "GO:0051058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051058", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein heterooligomerization", "id": "GO:0051291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051291", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "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": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "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": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "collateral sprouting", "id": "GO:0048668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048668", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "vesicle organization", "id": "GO:0016050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016050", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "regulation of receptor-mediated endocytosis", "id": "GO:0048259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048259", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "stress-activated MAPK cascade", "id": "GO:0051403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051403", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "endothelium development", "id": "GO:0003158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003158", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta1 production", "id": "GO:0032911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032911", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "podocyte differentiation", "id": "GO:0072112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072112", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "immunological synapse formation", "id": "GO:0001771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001771", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "maintenance of blood-brain barrier", "id": "GO:0035633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035633", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "renal albumin absorption", "id": "GO:0097018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097018", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "localization of cell", "id": "GO:0051674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051674", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "neurotrophin signaling pathway", "id": "GO:0038179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038179", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "response to glial cell derived neurotrophic factor", "id": "GO:1990790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990790", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor binding", "id": "GO:0005172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005172", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit binding", "id": "GO:0036312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036312", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 188, "start_aa": "Thr", "end_pos": 188, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr188", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Thr549", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 549, "start_aa": "Thr", "end_pos": 549, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr549", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9JLQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Ser514", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JLQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Thr563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLQ0", "url": "https://www.uniprot.org/uniprotkb/Q9JLQ0" } ] } ] }, { "uniprot_canonical_ac": "Q9JLQ0-1", "start_pos": "488", "end_pos": "488", "site_lbl": "His488", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "17", "chr_pos": "43119690", "evidence": [ { "id": "rs3389422733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422733" } ] } ] } ], "record_id": "Q9JLQ0-1" }, { "uniprot_canonical_ac": "P70677-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 277, "chemical_mass": 31475.0, "gene_names": "Casp3;A830040C14Rik;AC-3;CASP-3;CC3;CPP-32;CPP32;Casp3;Caspase-3;Cpp32;Lice;SCA-1;Yama;mldy", "protein_name": "Caspase-3", "disease": [ { "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:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:1002", "name": "endometritis", "description": "An endometrial disease that is characterized by inflammation of the endometrium.", "url": "https://disease-ontology.org/term/DOID:1002", "evidence": [ { "id": "1002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1002" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:11996", "name": "spermatic cord torsion", "description": "", "url": "https://disease-ontology.org/term/DOID:11996", "evidence": [ { "id": "11996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11996" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "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 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "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: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 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "death-inducing signaling complex", "id": "GO:0031264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031264", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "caspase complex", "id": "GO:0008303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008303", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "phospholipase A2 activator activity", "id": "GO:0016005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016005", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "death receptor binding", "id": "GO:0005123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005123", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase inhibitor activity", "id": "GO:0004861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004861", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to cobalt ion", "id": "GO:0032025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032025", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "glial cell apoptotic process", "id": "GO:0034349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034349", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "positive regulation of apoptotic DNA fragmentation", "id": "GO:1902512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902512", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cellular response to staurosporine", "id": "GO:0072734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072734", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to osmotic stress", "id": "GO:0008627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008627", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "fibroblast apoptotic process", "id": "GO:0044346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044346", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "anterior neural tube closure", "id": "GO:0061713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061713", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "protein poly-ADP-ribosylation", "id": "GO:0070212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070212", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "leukocyte apoptotic process", "id": "GO:0071887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071887", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" }, { "name": "positive regulation of pyroptotic inflammatory response", "id": "GO:0140639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140639", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70677-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70677", "url": "https://www.uniprot.org/uniprotkb/P70677" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70677", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70677" } ] } ] } ], "record_id": "P70677-1" }, { "uniprot_canonical_ac": "Q9DBY5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 44460.0, "gene_names": "Cbx6;Cbx6", "protein_name": "Chromobox protein homolog 6", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "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": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" }, { "name": "PRC1 complex", "id": "GO:0035102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035102", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBY5-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Thr410", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 410, "start_aa": "Thr", "end_pos": 410, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr410", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DBY5-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBY5", "url": "https://www.uniprot.org/uniprotkb/Q9DBY5" } ] } ] } ], "record_id": "Q9DBY5-1" }, { "uniprot_canonical_ac": "Q91VT4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 236, "chemical_mass": 25415.0, "gene_names": "Cbr4;A730083J17Rik;Cbr4", "protein_name": "3-oxoacyl-[acyl-carrier-protein] reductase", "disease": [ { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "oxidoreductase complex", "id": "GO:1990204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990204", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "protein heterotetramerization", "id": "GO:0051290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051290", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "daunorubicin metabolic process", "id": "GO:0044597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044597", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "doxorubicin metabolic process", "id": "GO:0044598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044598", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" } ], "molecular_function": [ { "name": "quinone binding", "id": "GO:0048038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048038", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "NAD(P)H dehydrogenase (quinone) activity", "id": "GO:0003955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003955", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "NADPH dehydrogenase (quinone) activity", "id": "GO:0008753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008753", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity", "id": "GO:0004316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004316", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q91VT4", "url": "https://www.uniprot.org/uniprotkb/Q91VT4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91VT4-1" }, { "uniprot_canonical_ac": "Q66L44-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 698, "chemical_mass": 74131.0, "gene_names": "Cbarp;1;9630008F14;Barp;Cbarp;Dos;R29144/1", "protein_name": "Voltage-dependent calcium channel beta subunit-associated regulatory protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of calcium ion-dependent exocytosis", "id": "GO:0045955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045955", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" }, { "name": "negative regulation of calcium ion transmembrane transport", "id": "GO:1903170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903170", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated calcium channel activity", "id": "GO:1901386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901386", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "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": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "Q66L44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q66L44#ptm_processing" }, { "id": "24751537", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24751537" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "24751537", "url": "https://glygen.org/publication/PubMed/24751537" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Thr691", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 691, "start_aa": "Thr", "end_pos": 691, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr691", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Ser610", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66L44", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Ser696", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66L44", "url": "https://www.uniprot.org/uniprotkb/Q66L44" } ] } ] }, { "uniprot_canonical_ac": "Q66L44-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Asp535", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "10", "chr_pos": "79967616", "evidence": [ { "id": "rs3400983009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400983009" } ] } ] } ], "record_id": "Q66L44-1" }, { "uniprot_canonical_ac": "P10605-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 37280.0, "gene_names": "Ctsb;CB;Ctsb", "protein_name": "Cathepsin B", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "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: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: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: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: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: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: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:885", "name": "fascioliasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.", "url": "https://disease-ontology.org/term/DOID:885", "evidence": [ { "id": "885", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:885" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "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": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "proteoglycan binding", "id": "GO:0043394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043394", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "kininogen binding", "id": "GO:0030984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030984", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "peptidase inhibitor complex", "id": "GO:1904090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904090", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" }, { "name": "thyroid hormone generation", "id": "GO:0006590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006590", "evidence": [ { "database": "UniProtKB", "id": "P10605", "url": "https://www.uniprot.org/uniprotkb/P10605" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10605-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ser175", "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": 175, "start_aa": "Ser", "end_pos": 175, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser175", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Thr183", "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": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Asn192", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2189", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2189" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2189", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2189" } ] }, { "glytoucan_ac": "G57776ZU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KGLVSGGVYNSHVGCLPYTIPPCEHHVNGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2189", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2189" } ] }, { "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": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "P10605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10605#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "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": 194, "start_aa": "Ser", "end_pos": 194, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser194", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P10605", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10605" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36113477", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36113477" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "41391522", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41391522" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Thr199", "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": 199, "start_aa": "Thr", "end_pos": 199, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr199", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P10605", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10605" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36113477", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36113477" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "41391522", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41391522" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Thr204", "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": 204, "start_aa": "Thr", "end_pos": 204, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr204", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Asn208", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28622IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CNKSCEAGYSPSYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "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": "P10605-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "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": 210, "start_aa": "Ser", "end_pos": 210, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser210", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P10605", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10605" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36113477", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36113477" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "41391522", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41391522" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] }, { "uniprot_canonical_ac": "P10605-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "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": "QNTTWQAGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "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": "P10605-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Thr39", "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": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P10605", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10605" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36113477", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36113477" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "41391522", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41391522" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "P10605", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10605" } ] } ] } ], "record_id": "P10605-1" }, { "uniprot_canonical_ac": "Q0VEJ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 659, "chemical_mass": 74303.0, "gene_names": "Cep76;6230425F05Rik;9630013E05;Cep76", "protein_name": "Centrosomal protein of 76 kDa", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of centriole replication", "id": "GO:0046599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046599", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0VEJ0-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Ser75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0VEJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VEJ0" } ] } ] }, { "uniprot_canonical_ac": "Q0VEJ0-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0VEJ0", "url": "https://www.uniprot.org/uniprotkb/Q0VEJ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0VEJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VEJ0" } ] } ] } ], "record_id": "Q0VEJ0-1" }, { "uniprot_canonical_ac": "Q3UHB8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHB8", "url": "https://www.uniprot.org/uniprotkb/Q3UHB8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 706, "chemical_mass": 79857.0, "gene_names": "Ccdc177;Ccdc177;Gm1568", "protein_name": "Coiled-coil domain-containing protein 177", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHB8-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHB8", "url": "https://www.uniprot.org/uniprotkb/Q3UHB8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHB8" } ] } ] } ], "record_id": "Q3UHB8-1" }, { "uniprot_canonical_ac": "Q64433-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 102, "chemical_mass": 10963.0, "gene_names": "Hspe1;10kDa;Hsp10;Hspe1;mt-cpn10", "protein_name": "10 kDa heat shock protein, mitochondrial", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64433-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64433" } ] } ] }, { "uniprot_canonical_ac": "Q64433-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Thr79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64433", "url": "https://www.uniprot.org/uniprotkb/Q64433" } ] } ] } ], "record_id": "Q64433-1" }, { "uniprot_canonical_ac": "Q6GQT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 603, "chemical_mass": 67634.0, "gene_names": "Cdc14a;A830059A17Rik;CDC14A2;CDC14a1;Cdc14a;Cdc14", "protein_name": "Dual specificity protein phosphatase CDC14A", "disease": [ { "disease_id": "DOID:0110491", "name": "autosomal recessive nonsyndromic deafness 32", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2.", "url": "https://disease-ontology.org/term/DOID:0110491", "evidence": [ { "id": "0110491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110491" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "kinocilium", "id": "GO:0060091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060091", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "stereocilium tip", "id": "GO:0032426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032426", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "kinociliary basal body", "id": "GO:1902636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902636", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "regulation of exit from mitosis", "id": "GO:0007096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007096", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6GQT0-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KNNVTTIVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "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": "Q6GQT0-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ] } ] }, { "uniprot_canonical_ac": "Q6GQT0-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Ser592", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" } ] } ] }, { "uniprot_canonical_ac": "Q6GQT0-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "3", "chr_pos": "116122301", "evidence": [ { "id": "rs3388648817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648817" } ] } ] }, { "uniprot_canonical_ac": "Q6GQT0-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Cys278", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Mutant mice are deaf, show fusion of stereocilia and degeneration of hair cells, and have low sperm counts.", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT0", "url": "https://www.uniprot.org/uniprotkb/Q6GQT0" }, { "database": "PubMed", "id": "29293958", "url": "https://glygen.org/publication/PubMed/29293958" } ] } ] } ], "record_id": "Q6GQT0-1" }, { "uniprot_canonical_ac": "Q8CDK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 862, "chemical_mass": 99216.0, "gene_names": "Agbl2;4930524K04;A430081C19Rik;Agbl2;CCP2;Ccp2", "protein_name": "Cytosolic carboxypeptidase 2", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "protein side chain deglutamylation", "id": "GO:0035610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035610", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CDK2-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ser814", "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": 814, "start_aa": "Ser", "end_pos": 814, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser814", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q8CDK2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CDK2" }, { "id": "Q8CDK2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CDK2" } ] } ] }, { "uniprot_canonical_ac": "Q8CDK2-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Ser816", "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": 816, "start_aa": "Ser", "end_pos": 816, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser816", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q8CDK2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CDK2" }, { "id": "Q8CDK2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CDK2" } ] } ] }, { "uniprot_canonical_ac": "Q8CDK2-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Glu593", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes deglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CDK2", "url": "https://www.uniprot.org/uniprotkb/Q8CDK2" }, { "database": "PubMed", "id": "25103237", "url": "https://glygen.org/publication/PubMed/25103237" } ] } ] } ], "record_id": "Q8CDK2-1" }, { "uniprot_canonical_ac": "Q8K3W3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 698, "chemical_mass": 75770.0, "gene_names": "Casc3;Btz;Casc3;Mln51", "protein_name": "Protein CASC3", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "exon-exon junction complex", "id": "GO:0035145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035145", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" }, { "name": "regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000622", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Ser694", "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": 694, "start_aa": "Ser", "end_pos": 694, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser694", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8K3W3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K3W3" }, { "id": "Q8K3W3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K3W3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8K3W3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Ser263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3W3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3W3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Thr354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3W3-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Leu464", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Accumulation in the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3W3", "url": "https://www.uniprot.org/uniprotkb/Q8K3W3" }, { "database": "PubMed", "id": "12843282", "url": "https://glygen.org/publication/PubMed/12843282" } ] } ] } ], "record_id": "Q8K3W3-1" }, { "uniprot_canonical_ac": "Q8VHF2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 831, "chemical_mass": 88208.0, "gene_names": "Cdhr5;1810074H01Rik;Cdhr5;Mucdhl;Mupcdh", "protein_name": "Cadherin-related family member 5", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "brush border assembly", "id": "GO:1904970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904970", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "regulation of microvillus length", "id": "GO:0032532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032532", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "intermicrovillar adhesion", "id": "GO:0090675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090675", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Asn135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Asn201", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 201, "start_aa": "Asn", "end_pos": 201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Asn287", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 287, "start_aa": "Asn", "end_pos": 287, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn287", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Asn311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 311, "start_aa": "Asn", "end_pos": 311, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn311", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Asn36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 36, "start_aa": "Asn", "end_pos": 36, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn36", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Asn408", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 408, "start_aa": "Asn", "end_pos": 408, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn408", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Thr462", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 462, "start_aa": "Thr", "end_pos": 462, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr462", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Asn475", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 475, "start_aa": "Asn", "end_pos": 475, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn475", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Thr597", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 597, "start_aa": "Thr", "end_pos": 597, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr597", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Thr728", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 728, "start_aa": "Thr", "end_pos": 728, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr728", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Thr733", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 733, "start_aa": "Thr", "end_pos": 733, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr733", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Asn84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "Q8VHF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Ser699", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "721", "end_pos": "721", "site_lbl": "Ser721", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Ser725", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" }, { "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": "Q8VHF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Thr795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Ser802", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Ser804", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ] } ] }, { "uniprot_canonical_ac": "Q8VHF2-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Ser806", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF2", "url": "https://www.uniprot.org/uniprotkb/Q8VHF2" } ] } ] } ], "record_id": "Q8VHF2-1" }, { "uniprot_canonical_ac": "O88552-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 230, "chemical_mass": 24484.0, "gene_names": "Cldn2;Cldn2", "protein_name": "Claudin-2", "disease": [], "biological_process": [ { "name": "regulation of intestinal lipid absorption", "id": "GO:1904729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904729", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "id": "GO:0016338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016338", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "regulation of bile acid secretion", "id": "GO:0120188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120188", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "paracellular transport", "id": "GO:0160184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160184", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "regulation of intestinal D-glucose absorption", "id": "GO:1903985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903985", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" }, { "name": "paracellular tight junction channel activity", "id": "GO:0160187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160187", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88552-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88552", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88552" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88552", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88552" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Glu53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Does not affect the channel activity.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "19114638", "url": "https://glygen.org/publication/PubMed/19114638" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Cys54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Disrupts trafficking to tight junction.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "23677799", "url": "https://glygen.org/publication/PubMed/23677799" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect trafficking to tight junction. Causes loss of pore formation. Impairs transepithelial conductance. Impairs sodium paracellular permeability.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "23677799", "url": "https://glygen.org/publication/PubMed/23677799" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Cys64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Disrupts trafficking to tight junction.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "23677799", "url": "https://glygen.org/publication/PubMed/23677799" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect trafficking to tight junction. Causes loss of pore formation. Impairs transepithelial conductance. Impairs sodium paracellular permeability.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "23677799", "url": "https://glygen.org/publication/PubMed/23677799" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asp65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Markedly decreases cation permeability.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "19114638", "url": "https://glygen.org/publication/PubMed/19114638" } ] } ] }, { "uniprot_canonical_ac": "O88552-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asp76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not affect the channel activity.", "evidence": [ { "database": "UniProtKB", "id": "O88552", "url": "https://www.uniprot.org/uniprotkb/O88552" }, { "database": "PubMed", "id": "19114638", "url": "https://glygen.org/publication/PubMed/19114638" } ] } ] } ], "record_id": "O88552-1" }, { "uniprot_canonical_ac": "P27790-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 599, "chemical_mass": 65381.0, "gene_names": "Cenpb;CENP-B;Cenp-b;Cenpb", "protein_name": "Major centromere autoantigen B", "disease": [ { "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:2952", "name": "inner ear disease", "description": "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.", "url": "https://disease-ontology.org/term/DOID:2952", "evidence": [ { "id": "2952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "condensed chromosome, centromeric region", "id": "GO:0000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000779", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27790-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Thr169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 169, "start_aa": "Thr", "end_pos": 169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P27790-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ] } ] }, { "uniprot_canonical_ac": "P27790-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Thr396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ] } ] }, { "uniprot_canonical_ac": "P27790-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Thr398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27790", "url": "https://www.uniprot.org/uniprotkb/P27790" } ] } ] }, { "uniprot_canonical_ac": "P27790-1", "start_pos": "580", "end_pos": "580", "site_lbl": "His580", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HVT->NVT).", "chr_id": "2", "chr_pos": "131020059", "evidence": [ { "id": "rs3388589607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388589607" } ] } ] } ], "record_id": "P27790-1" }, { "uniprot_canonical_ac": "Q4QRL3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1481, "chemical_mass": 166608.0, "gene_names": "Ccdc88b;2610041P08Rik;Ccdc88b;Ccdc88", "protein_name": "Coiled-coil domain-containing protein 88B", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "cytoskeleton-dependent intracellular transport", "id": "GO:0030705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030705", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Ser1042", "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": 1042, "start_aa": "Ser", "end_pos": 1042, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1042", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q4QRL3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4QRL3" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Thr513", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 513, "start_aa": "Thr", "end_pos": 513, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr513", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Thr720", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 720, "start_aa": "Thr", "end_pos": 720, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr720", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Ser1353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4QRL3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QRL3" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Ser1384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4QRL3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QRL3" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q4QRL3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QRL3" } ] } ] }, { "uniprot_canonical_ac": "Q4QRL3-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4QRL3", "url": "https://www.uniprot.org/uniprotkb/Q4QRL3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4QRL3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4QRL3" } ] } ] } ], "record_id": "Q4QRL3-1" }, { "uniprot_canonical_ac": "Q6PDY0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 202, "chemical_mass": 22133.0, "gene_names": "Ccdc85b;Ccdc85b;Dipa", "protein_name": "Coiled-coil domain-containing protein 85B", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "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": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" } ], "molecular_function": [ { "name": "delta-catenin binding", "id": "GO:0070097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070097", "evidence": [ { "database": "UniProtKB", "id": "Q6PDY0", "url": "https://www.uniprot.org/uniprotkb/Q6PDY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PDY0-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Thr165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 165, "start_aa": "Thr", "end_pos": 165, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr165", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q6PDY0-1" }, { "uniprot_canonical_ac": "Q9Z309-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 187, "chemical_mass": 21704.0, "gene_names": "Cib2;2810434I23Rik;Cib2;KIP 2;KIP2;Kip2", "protein_name": "Calcium and integrin-binding family member 2", "disease": [ { "disease_id": "DOID:0110505", "name": "autosomal recessive nonsyndromic deafness 48", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.", "url": "https://disease-ontology.org/term/DOID:0110505", "evidence": [ { "id": "0110505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110505" } ], "weight": 0.0 }, { "disease_id": "DOID:0110826", "name": "Usher syndrome type 1", "description": "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.", "url": "https://disease-ontology.org/term/DOID:0110826", "evidence": [ { "id": "0110826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110826" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "muscle tendon junction", "id": "GO:0005927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005927", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "cuticular plate", "id": "GO:0032437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032437", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ile114", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Weakens interaction with TMC1.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ile123", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Causes deafness; disrupts interaction with TMC1 and TMC2; abolishes MET currents; abolishes localization of TMC1 and TMC2 to stereocilia.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Leu140", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Disrupts interaction with TMC1.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Val152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Disrupts interaction with TMC1. Disrupts mechanoelectrical transduction (MET) in hair cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Arg186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Causes deafness; decreases interaction with TMC1 and TMC2; abolishes localization of TMC1 to stereocilia; reduces localization of TMC2 to stereocilia; reduces calcium permeability and conductance of MET channels in hair cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Glu64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Causes deafness; decreases interaction with TMC1 and TMC2; reduces MET currents.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Disrupts interaction with TMC1. Disrupts mechanoelectrical transduction (MET) in hair cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "34089643", "url": "https://glygen.org/publication/PubMed/34089643" } ] } ] }, { "uniprot_canonical_ac": "Q9Z309-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Phe91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Causes profound deafness. Does not disrupt localization in hair cell stereocilia. No obvious indications of vestibular dysfunction.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z309", "url": "https://www.uniprot.org/uniprotkb/Q9Z309" }, { "database": "PubMed", "id": "28663585", "url": "https://glygen.org/publication/PubMed/28663585" } ] } ] } ], "record_id": "Q9Z309-1" }, { "uniprot_canonical_ac": "P40201-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1711, "chemical_mass": 196385.0, "gene_names": "Chd1;4930525N21Rik;Chd-1;Chd1", "protein_name": "ATP-dependent chromatin remodeler CHD1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nucleosome organization", "id": "GO:0034728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034728", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "histone H3K4me3 reader activity", "id": "GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P40201-1", "start_pos": "1023", "end_pos": "1023", "site_lbl": "Ser1023", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "Ser1038", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1079", "end_pos": "1079", "site_lbl": "Ser1079", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1094", "end_pos": "1094", "site_lbl": "Ser1094", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1096", "end_pos": "1096", "site_lbl": "Ser1096", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1098", "end_pos": "1098", "site_lbl": "Ser1098", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Ser1100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Ser1159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Ser1353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1355", "end_pos": "1355", "site_lbl": "Ser1355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1356", "end_pos": "1356", "site_lbl": "Ser1356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1360", "end_pos": "1360", "site_lbl": "Ser1360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1363", "end_pos": "1363", "site_lbl": "Ser1363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1373", "end_pos": "1373", "site_lbl": "Ser1373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1678", "end_pos": "1678", "site_lbl": "Ser1678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "1690", "end_pos": "1690", "site_lbl": "Ser1690", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P40201", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P40201", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Thr235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Thr248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] }, { "uniprot_canonical_ac": "P40201-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40201", "url": "https://www.uniprot.org/uniprotkb/P40201" } ] } ] } ], "record_id": "P40201-1" }, { "uniprot_canonical_ac": "O88200-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 328, "chemical_mass": 36451.0, "gene_names": "Clec11a;Clec11a;Clecsf3;Scgf", "protein_name": "C-type lectin domain family 11 member A", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "O88200", "url": "https://www.uniprot.org/uniprotkb/O88200" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88200-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Thr108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 108, "start_aa": "Thr", "end_pos": 108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr108", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955729", "evidence": [ { "id": "rs3388904534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904534" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Pro109", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955720", "evidence": [ { "id": "rs3388906815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906815" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955721", "evidence": [ { "id": "rs247642635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247642635" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Thr145", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955360", "evidence": [ { "id": "rs3388905740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905740" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Gln169", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955287", "evidence": [ { "id": "rs3388905348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905348" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Lys184", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954402", "evidence": [ { "id": "rs3397898644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397898644" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ala235", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954249", "evidence": [ { "id": "rs221589210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221589210" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Arg250", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954204", "evidence": [ { "id": "rs3388905308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905308" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Gly254", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954192", "evidence": [ { "id": "rs3388864292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388864292" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Pro25", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43956117", "evidence": [ { "id": "rs5527997721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527997721" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ala272", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954137", "evidence": [ { "id": "rs3388904499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904499" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Gly278", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43954119", "evidence": [ { "id": "rs3388908551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908551" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Thr59", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955871", "evidence": [ { "id": "rs3388905744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905744" } ] } ] }, { "uniprot_canonical_ac": "O88200-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Gln83", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/tetranectin.", "chr_id": "7", "chr_pos": "43955798", "evidence": [ { "id": "rs3397908194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397908194" } ] } ] } ], "record_id": "O88200-1" }, { "uniprot_canonical_ac": "O88696-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 272, "chemical_mass": 29800.0, "gene_names": "Clpp;Clpp;D17Wsu160e", "protein_name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial", "disease": [ { "disease_id": "DOID:0050857", "name": "Perrault syndrome", "description": "A syndrome that is characterized by sensorineural hearing loss and ovarian failure.", "url": "https://disease-ontology.org/term/DOID:0050857", "evidence": [ { "id": "0050857", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050857" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "ATP-dependent peptidase activity", "id": "GO:0004176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004176", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "endopeptidase Clp complex", "id": "GO:0009368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009368", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "membrane protein proteolysis", "id": "GO:0033619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033619", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "O88696", "url": "https://www.uniprot.org/uniprotkb/O88696" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88696-1" }, { "uniprot_canonical_ac": "P56857-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 264, "chemical_mass": 28122.0, "gene_names": "Cldn18;Cldn18", "protein_name": "Claudin-18", "disease": [], "biological_process": [ { "name": "tight junction assembly", "id": "GO:0120192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120192", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "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": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "negative regulation of bone resorption", "id": "GO:0045779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045779", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "negative regulation of osteoclast development", "id": "GO:2001205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001205", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "id": "GO:0016338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016338", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "tight junction organization", "id": "GO:0120193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120193", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56857-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56857", "url": "https://www.uniprot.org/uniprotkb/P56857" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56857", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56857" } ] } ] } ], "record_id": "P56857-1" }, { "uniprot_canonical_ac": "Q60771-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 207, "chemical_mass": 22114.0, "gene_names": "Cldn11;Claudin-11;Claudin11;Cldn11;Osp;Otm", "protein_name": "Claudin-11", "disease": [ { "disease_id": "DOID:0070402", "name": "hypomyelinating leukodystrophy 22", "description": "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.", "url": "https://disease-ontology.org/term/DOID:0070402", "evidence": [ { "id": "0070402", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070402" } ], "weight": 0.0 } ], "biological_process": [ { "name": "tight junction assembly", "id": "GO:0120192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120192", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "axon ensheathment", "id": "GO:0008366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008366", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "id": "GO:0016338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016338", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" } ], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60771-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ser193", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" } ] } ] }, { "uniprot_canonical_ac": "Q60771-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60771", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60771" } ] } ] }, { "uniprot_canonical_ac": "Q60771-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60771", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60771" } ] } ] }, { "uniprot_canonical_ac": "Q60771-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Ser198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60771", "url": "https://www.uniprot.org/uniprotkb/Q60771" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60771", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60771" } ] } ] } ], "record_id": "Q60771-1" }, { "uniprot_canonical_ac": "Q9Z0H8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1047, "chemical_mass": 115910.0, "gene_names": "Clip2;B230327O20;CLIP-115;Clip1;Clip2;Cyln2;Kiaa0291;WSCR4;mKIAA0291;wbscr4", "protein_name": "CAP-Gly domain-containing linker protein 2", "disease": [ { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "lamellar body", "id": "GO:0042599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042599", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "dendritic microtubule", "id": "GO:1901588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901588", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Asn201", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G36379GD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TGNESGSNLSDSGSVKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 201, "start_aa": "Asn", "end_pos": 201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "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": "Q9Z0H8-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "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": 24, "start_aa": "Ser", "end_pos": 24, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser24", "evidence": [ { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "Q9Z0H8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0H8" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Thr355", "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": 355, "start_aa": "Thr", "end_pos": 355, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr355", "evidence": [ { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "Q9Z0H8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0H8" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0H8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Thr356", "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": 356, "start_aa": "Thr", "end_pos": 356, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr356", "evidence": [ { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "Q9Z0H8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0H8" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0H8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "924", "end_pos": "924", "site_lbl": "Ser924", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "974", "end_pos": "974", "site_lbl": "Ser974", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0H8-1", "start_pos": "980", "end_pos": "980", "site_lbl": "Ser980", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0H8" } ] } ] } ], "record_id": "Q9Z0H8-1" }, { "uniprot_canonical_ac": "E9Q9F6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 805, "chemical_mass": 91096.0, "gene_names": "Catsperd;4921529N20Rik;4933402B14Rik;619718;Catsperd;Gm6095;Tmem146", "protein_name": "Cation channel sperm-associated auxiliary subunit delta", "disease": [], "cellular_component": [ { "name": "CatSper complex", "id": "GO:0036128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036128", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "E9Q9F6", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q9F6-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Asn227", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.G:227;+center+selection;+zoom+selection" }, "start_pos": 227, "start_aa": "Asn", "end_pos": 227, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn227", "evidence": [ { "id": "E9Q9F6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|G|227", "database": "", "url": "" }, { "id": "9UBW|g|227", "database": "", "url": "" }, { "id": "9UBW|G|227", "database": "", "url": "" }, { "id": "9UBX|t|227", "database": "", "url": "" }, { "id": "9UBX|g|227", "database": "", "url": "" }, { "id": "9UBX|G|227", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "E9Q9F6-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Asn419", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 419, "start_aa": "Asn", "end_pos": 419, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn419", "evidence": [ { "id": "E9Q9F6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9Q9F6-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Asn469", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.G:469;+center+selection;+zoom+selection" }, "start_pos": 469, "start_aa": "Asn", "end_pos": 469, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn469", "evidence": [ { "id": "E9Q9F6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB|G|469", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "E9Q9F6-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Asn535", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7EEB&bu=0&command=select+.G:535;+center+selection;+zoom+selection" }, "start_pos": 535, "start_aa": "Asn", "end_pos": 535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn535", "evidence": [ { "id": "E9Q9F6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "7EEB", "database": "PDB", "url": "https://www.rcsb.org/structure/7EEB" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBW", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBW" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "9UBX", "database": "PDB", "url": "https://www.rcsb.org/structure/9UBX" }, { "id": "7EEB|G|535", "database": "", "url": "" }, { "id": "9UBW|g|535", "database": "", "url": "" }, { "id": "9UBW|G|535", "database": "", "url": "" }, { "id": "9UBX|t|535", "database": "", "url": "" }, { "id": "9UBX|g|535", "database": "", "url": "" }, { "id": "9UBX|G|535", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "E9Q9F6-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Asn627", "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": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "evidence": [ { "id": "E9Q9F6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q9F6#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] } ], "record_id": "E9Q9F6-1" }, { "uniprot_canonical_ac": "P0DP43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 985, "chemical_mass": 113803.0, "gene_names": "Catspere1;Catspere;Catspere1;Gm7068", "protein_name": "Cation channel sperm-associated auxiliary subunit epsilon", "disease": [], "cellular_component": [ { "name": "CatSper complex", "id": "GO:0036128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036128", "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "P0DP43", "url": "https://www.uniprot.org/uniprotkb/P0DP43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asn143", "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": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Asn292", "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": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Asn502", "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": 502, "start_aa": "Asn", "end_pos": 502, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn502", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Asn517", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Asn565", "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": 565, "start_aa": "Asn", "end_pos": 565, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn565", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Asn749", "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": 749, "start_aa": "Asn", "end_pos": 749, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn749", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Asn830", "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": 830, "start_aa": "Asn", "end_pos": 830, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn830", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Asn888", "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": 888, "start_aa": "Asn", "end_pos": 888, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn888", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Asn915", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 915, "start_aa": "Asn", "end_pos": 915, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn915", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "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": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] }, { "uniprot_canonical_ac": "P0DP43-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Asn920", "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": 920, "start_aa": "Asn", "end_pos": 920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "evidence": [ { "id": "P0DP43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DP43#ptm_processing" }, { "id": "34225353", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34225353" } ] } ] } ], "record_id": "P0DP43-1" }, { "uniprot_canonical_ac": "P63154-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 690, "chemical_mass": 83416.0, "gene_names": "Crnkl1;1200013P10Rik;5730590A01Rik;Crnkl1;crn", "protein_name": "Crooked neck-like protein 1", "disease": [ { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" }, { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63154-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" } ] } ] }, { "uniprot_canonical_ac": "P63154-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63154", "url": "https://www.uniprot.org/uniprotkb/P63154" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P63154", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63154" } ] } ] } ], "record_id": "P63154-1" }, { "uniprot_canonical_ac": "Q6P9K8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1431, "chemical_mass": 150495.0, "gene_names": "Caskin1;3300002N10Rik;C130061I24;C630036E02Rik;Caskin1;Kiaa1306;mKIAA1306", "protein_name": "Caskin-1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Thr1246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1246, "start_aa": "Thr", "end_pos": 1246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1246", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1281", "end_pos": "1281", "site_lbl": "Thr1281", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1281, "start_aa": "Thr", "end_pos": 1281, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1281", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1298", "end_pos": "1298", "site_lbl": "Thr1298", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1298, "start_aa": "Thr", "end_pos": 1298, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1298", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1335", "end_pos": "1335", "site_lbl": "Thr1335", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1335, "start_aa": "Thr", "end_pos": 1335, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1335", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Thr809", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 809, "start_aa": "Thr", "end_pos": 809, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr809", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "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": 824, "start_aa": "Ser", "end_pos": 824, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser824", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6P9K8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P9K8" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "17", "chr_pos": "24723684", "evidence": [ { "id": "rs3389433492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433492" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1067", "end_pos": "1067", "site_lbl": "Thr1067", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1069", "end_pos": "1069", "site_lbl": "Ser1069", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1259", "end_pos": "1259", "site_lbl": "Ser1259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1268", "end_pos": "1268", "site_lbl": "Thr1268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "1363", "end_pos": "1363", "site_lbl": "Ser1363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Thr741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Ser791", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Ser891", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Ser893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "989", "end_pos": "989", "site_lbl": "Ser989", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9K8", "url": "https://www.uniprot.org/uniprotkb/Q6P9K8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9K8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9K8" } ] } ] }, { "uniprot_canonical_ac": "Q6P9K8-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Asp514", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "17", "chr_pos": "24721291", "evidence": [ { "id": "rs3389432297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432297" } ] } ] } ], "record_id": "Q6P9K8-1" }, { "uniprot_canonical_ac": "Q80T79-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80T79", "url": "https://www.uniprot.org/uniprotkb/Q80T79" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3707, "chemical_mass": 405762.0, "gene_names": "Csmd3;4930500N14Rik;Csmd3;Kiaa1894;mKIAA1894", "protein_name": "CUB and sushi domain-containing protein 3", "disease": [ { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80T79", "url": "https://www.uniprot.org/uniprotkb/Q80T79" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q80T79", "url": "https://www.uniprot.org/uniprotkb/Q80T79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1092", "end_pos": "1092", "site_lbl": "Asn1092", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1092, "start_aa": "Asn", "end_pos": 1092, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1092", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Asn1126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1126, "start_aa": "Asn", "end_pos": 1126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1126", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1171", "end_pos": "1171", "site_lbl": "Asn1171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1171, "start_aa": "Asn", "end_pos": 1171, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1171", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1280", "end_pos": "1280", "site_lbl": "Asn1280", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GINISAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1280, "start_aa": "Asn", "end_pos": 1280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1280", "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" } ] }, { "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": 1280, "start_aa": "Asn", "end_pos": 1280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1280", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1536", "end_pos": "1536", "site_lbl": "Asn1536", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DPGVPMNGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1536, "start_aa": "Asn", "end_pos": 1536, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1536", "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" } ] }, { "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": 1536, "start_aa": "Asn", "end_pos": 1536, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1536", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1591", "end_pos": "1591", "site_lbl": "Asn1591", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1591, "start_aa": "Asn", "end_pos": 1591, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1591", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1709", "end_pos": "1709", "site_lbl": "Asn1709", "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": "ESCFDPGNIMNGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1709, "start_aa": "Asn", "end_pos": 1709, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1709", "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" } ] }, { "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": 1709, "start_aa": "Asn", "end_pos": 1709, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1709", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1781", "end_pos": "1781", "site_lbl": "Asn1781", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1781, "start_aa": "Asn", "end_pos": 1781, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1781", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NYSVDHNCVYSIAVPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1781, "start_aa": "Asn", "end_pos": 1781, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1781", "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" } ] }, { "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": 1781, "start_aa": "Asn", "end_pos": 1781, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1781", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "1929", "end_pos": "1929", "site_lbl": "Asn1929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1929, "start_aa": "Asn", "end_pos": 1929, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1929", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Asn2019", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2019, "start_aa": "Asn", "end_pos": 2019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2019", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2155", "end_pos": "2155", "site_lbl": "Asn2155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2155, "start_aa": "Asn", "end_pos": 2155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2155", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2286", "end_pos": "2286", "site_lbl": "Asn2286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2286, "start_aa": "Asn", "end_pos": 2286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2286", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "15", "chr_pos": "47560206", "evidence": [ { "id": "rs3551744244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551744244" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2291", "end_pos": "2291", "site_lbl": "Asn2291", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2291, "start_aa": "Asn", "end_pos": 2291, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2291", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2711", "end_pos": "2711", "site_lbl": "Asn2711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2711, "start_aa": "Asn", "end_pos": 2711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2711", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2711, "start_aa": "Asn", "end_pos": 2711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2711", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2711, "start_aa": "Asn", "end_pos": 2711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2711", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2711, "start_aa": "Asn", "end_pos": 2711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2711", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IVNGSHYEYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2711, "start_aa": "Asn", "end_pos": 2711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2711", "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": "Q80T79-3", "start_pos": "2764", "end_pos": "2764", "site_lbl": "Thr2764", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2764, "start_aa": "Thr", "end_pos": 2764, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2764", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "2932", "end_pos": "2932", "site_lbl": "Asn2932", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02886BB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVNCSDPGIPANSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2932, "start_aa": "Asn", "end_pos": 2932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3061", "end_pos": "3061", "site_lbl": "Thr3061", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3061, "start_aa": "Thr", "end_pos": 3061, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3061", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3074", "end_pos": "3074", "site_lbl": "Thr3074", "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": 3074, "start_aa": "Thr", "end_pos": 3074, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3074", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q80T79", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80T79" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3099", "end_pos": "3099", "site_lbl": "Asn3099", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TCLSNGSWTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3099, "start_aa": "Asn", "end_pos": 3099, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3099", "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" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3099, "start_aa": "Asn", "end_pos": 3099, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3099", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3099, "start_aa": "Asn", "end_pos": 3099, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3099", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3218", "end_pos": "3218", "site_lbl": "Asn3218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TCTTNGTWSGVMPTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3218, "start_aa": "Asn", "end_pos": 3218, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3218", "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": "Q80T79-3", "start_pos": "3364", "end_pos": "3364", "site_lbl": "Asn3364", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HGSQNNTFGFQVGSVVQFHCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3364, "start_aa": "Asn", "end_pos": 3364, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3364", "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": "Q80T79-3", "start_pos": "3483", "end_pos": "3483", "site_lbl": "Thr3483", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3483, "start_aa": "Thr", "end_pos": 3483, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3483", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3522", "end_pos": "3522", "site_lbl": "Asn3522", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPMTLTVTSFNASTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3522, "start_aa": "Asn", "end_pos": 3522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3522", "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" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3522, "start_aa": "Asn", "end_pos": 3522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3522", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2242", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3529", "end_pos": "3529", "site_lbl": "Asn3529", "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": "VNATLSNSDMELLLSGVYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3529, "start_aa": "Asn", "end_pos": 3529, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3529", "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": "Q80T79-3", "start_pos": "724", "end_pos": "724", "site_lbl": "Asn724", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 724, "start_aa": "Asn", "end_pos": 724, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn724", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "73", "end_pos": "73", "site_lbl": "Asn73", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 73, "start_aa": "Asn", "end_pos": 73, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn73", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "823", "end_pos": "823", "site_lbl": "Asn823", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70316RW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEFQADHSMSGRGFNITYNTFGHNECPDPGIPINAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 823, "start_aa": "Asn", "end_pos": 823, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn823", "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" } ] }, { "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": 823, "start_aa": "Asn", "end_pos": 823, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn823", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "90", "end_pos": "90", "site_lbl": "Asn90", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "966", "end_pos": "966", "site_lbl": "Asn966", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 966, "start_aa": "Asn", "end_pos": 966, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn966", "evidence": [ { "id": "Q80T79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T79#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T79-3", "start_pos": "3458", "end_pos": "3458", "site_lbl": "Thr3458", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TWT->NWT).", "chr_id": "15", "chr_pos": "47469526", "evidence": [ { "id": "rs3389331013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389331013" } ] } ] } ], "record_id": "Q80T79-3" }, { "uniprot_canonical_ac": "Q80YR6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 893, "chemical_mass": 100831.0, "gene_names": "Rbbp8;9930104E21Rik;CtIP;Ctip;RBBP-8;RIM;Rbbp8;SAE2", "protein_name": "DNA endonuclease RBBP8", "disease": [ { "disease_id": "DOID:0070013", "name": "Seckel syndrome 2", "description": "A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.", "url": "https://disease-ontology.org/term/DOID:0070013", "evidence": [ { "id": "0070013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070013" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "BRCA1-C complex", "id": "GO:0070533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070533", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "DNA double-strand break processing involved in repair via single-strand annealing", "id": "GO:0010792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010792", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "DNA strand resection involved in replication fork processing", "id": "GO:0110025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110025", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "homologous recombination", "id": "GO:0035825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035825", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Thr360", "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": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q80YR6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YR6" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q80YR6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "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": 369, "start_aa": "Ser", "end_pos": 369, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser369", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q80YR6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Thr604", "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": 604, "start_aa": "Thr", "end_pos": 604, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr604", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q80YR6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YR6" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Thr610", "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": 610, "start_aa": "Thr", "end_pos": 610, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr610", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q80YR6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80YR6" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "18", "chr_pos": "11855683", "evidence": [ { "id": "rs3389445633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389445633" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Ser662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Ser720", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Thr843", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] }, { "uniprot_canonical_ac": "Q80YR6-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Thr855", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YR6", "url": "https://www.uniprot.org/uniprotkb/Q80YR6" } ] } ] } ], "record_id": "Q80YR6-1" }, { "uniprot_canonical_ac": "Q8BLQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 635, "chemical_mass": 68350.0, "gene_names": "Slc7a4;Slc7a4", "protein_name": "Cationic amino acid transporter 4", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "pmid": "" }, { "name": "carboxylic acid transmembrane transporter activity", "id": "GO:0046943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046943", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "Q8BLQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Asn151", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "evidence": [ { "id": "Q8BLQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Asn195", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "evidence": [ { "id": "Q8BLQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Asn221", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 221, "start_aa": "Asn", "end_pos": 221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn221", "evidence": [ { "id": "Q8BLQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Thr431", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 431, "start_aa": "Thr", "end_pos": 431, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr431", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q8BLQ7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8BLQ7" }, { "database": "iPTMnet", "id": "Q8BLQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLQ7" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BLQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLQ7" } ] } ] }, { "uniprot_canonical_ac": "Q8BLQ7-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ7", "url": "https://www.uniprot.org/uniprotkb/Q8BLQ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BLQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BLQ7" } ] } ] } ], "record_id": "Q8BLQ7-1" }, { "uniprot_canonical_ac": "Q8C5K5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C5K5", "url": "https://www.uniprot.org/uniprotkb/Q8C5K5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 36589.0, "gene_names": "1810030O07Rik", "protein_name": "Uncharacterized protein CXorf38 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C5K5-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5K5", "url": "https://www.uniprot.org/uniprotkb/Q8C5K5" } ] } ] } ], "record_id": "Q8C5K5-1" }, { "uniprot_canonical_ac": "Q8VHY0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2327, "chemical_mass": 252309.0, "gene_names": "Cspg4;4732461B14Rik;AN2;An2;Cspg4a;Cspg4;Kiaa4232;NG2;Ng2", "protein_name": "Chondroitin sulfate proteoglycan 4", "disease": [ { "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "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": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "substrate-dependent cell migration", "id": "GO:0006929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006929", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "lamellipodium membrane", "id": "GO:0031258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031258", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Ser1000", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 1000, "start_aa": "Ser", "end_pos": 1000, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1000", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Asn1136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1136, "start_aa": "Asn", "end_pos": 1136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1136", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Thr1174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1174, "start_aa": "Thr", "end_pos": 1174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1174", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1207", "end_pos": "1207", "site_lbl": "Asn1207", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1207, "start_aa": "Asn", "end_pos": 1207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1207", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "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": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "Asn1369", "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": 1369, "start_aa": "Asn", "end_pos": 1369, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1369", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1454", "end_pos": "1454", "site_lbl": "Asn1454", "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": 1454, "start_aa": "Asn", "end_pos": 1454, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1454", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1650", "end_pos": "1650", "site_lbl": "Asn1650", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1650, "start_aa": "Asn", "end_pos": 1650, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1650", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1914", "end_pos": "1914", "site_lbl": "Asn1914", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1914, "start_aa": "Asn", "end_pos": 1914, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1914", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2021", "end_pos": "2021", "site_lbl": "Asn2021", "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": 2021, "start_aa": "Asn", "end_pos": 2021, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2021", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2039", "end_pos": "2039", "site_lbl": "Asn2039", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2039, "start_aa": "Asn", "end_pos": 2039, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2039", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2045", "end_pos": "2045", "site_lbl": "Asn2045", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2045, "start_aa": "Asn", "end_pos": 2045, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2045", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2080", "end_pos": "2080", "site_lbl": "Asn2080", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LDPTVLDASELANR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2080, "start_aa": "Asn", "end_pos": 2080, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2080", "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" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2080, "start_aa": "Asn", "end_pos": 2080, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2080", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2213", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2213" } ] }, { "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": 2080, "start_aa": "Asn", "end_pos": 2080, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2080", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LGLAPGAANISLVGCIEDFSVNGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "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" } ] }, { "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": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Asn686", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05049YU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVAVRPAIQILHNTGLHLAQGSAAAILPANLSVETNAVGQDVSVLFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 686, "start_aa": "Asn", "end_pos": 686, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn686", "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" } ] }, { "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": 686, "start_aa": "Asn", "end_pos": 686, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn686", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "773", "end_pos": "773", "site_lbl": "Asn773", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 773, "start_aa": "Asn", "end_pos": 773, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn773", "evidence": [ { "id": "Q8VHY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2257", "end_pos": "2257", "site_lbl": "Thr2257", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1001", "end_pos": "1001", "site_lbl": "Gly1001", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795268", "evidence": [ { "id": "rs3389055272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055272" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Arg1009", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795291", "evidence": [ { "id": "rs3389013863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013863" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Val1014", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795306", "evidence": [ { "id": "rs3389040629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040629" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Val103", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792573", "evidence": [ { "id": "rs226136120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226136120" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1113", "end_pos": "1113", "site_lbl": "Ser1113", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795603", "evidence": [ { "id": "rs3389044683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044683" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1124", "end_pos": "1124", "site_lbl": "Glu1124", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795637", "evidence": [ { "id": "rs3389040663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040663" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Gln1156", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795734", "evidence": [ { "id": "rs257114784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257114784" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Glu1168", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795770", "evidence": [ { "id": "rs3400203228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400203228" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1169", "end_pos": "1169", "site_lbl": "Val1169", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795771", "evidence": [ { "id": "rs3400203283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400203283" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "His1170", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795775", "evidence": [ { "id": "rs3400192285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400192285" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asp118", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792618", "evidence": [ { "id": "rs3389036097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036097" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1201", "end_pos": "1201", "site_lbl": "Ala1201", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795867", "evidence": [ { "id": "rs231673050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231673050" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Val1220", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795925", "evidence": [ { "id": "rs3389048279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048279" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1278", "end_pos": "1278", "site_lbl": "Asp1278", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797369", "evidence": [ { "id": "rs251754292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251754292" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1287", "end_pos": "1287", "site_lbl": "Pro1287", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797396", "evidence": [ { "id": "rs3389048250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048250" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1289", "end_pos": "1289", "site_lbl": "Ala1289", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797402", "evidence": [ { "id": "rs3389044519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044519" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Val128", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792648", "evidence": [ { "id": "rs3389044655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044655" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1304", "end_pos": "1304", "site_lbl": "Pro1304", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797447", "evidence": [ { "id": "rs3389048682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048682" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Trp1333", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797534", "evidence": [ { "id": "rs3389040659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040659" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1337", "end_pos": "1337", "site_lbl": "Phe1337", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797546", "evidence": [ { "id": "rs3389053134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053134" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1361", "end_pos": "1361", "site_lbl": "Thr1361", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797619", "evidence": [ { "id": "rs3389042531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042531" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Gly1376", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797664", "evidence": [ { "id": "rs3389055275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055275" } ] }, { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797663", "evidence": [ { "id": "rs3389048256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048256" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1386", "end_pos": "1386", "site_lbl": "Gln1386", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797695", "evidence": [ { "id": "rs232342654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232342654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1406", "end_pos": "1406", "site_lbl": "Pro1406", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797753", "evidence": [ { "id": "rs3389048851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048851" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Gly1409", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797762", "evidence": [ { "id": "rs3389050666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050666" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1425", "end_pos": "1425", "site_lbl": "Phe1425", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797811", "evidence": [ { "id": "rs3389042567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042567" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1448", "end_pos": "1448", "site_lbl": "Ala1448", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56798329", "evidence": [ { "id": "rs245699149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245699149" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Leu1451", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56798338", "evidence": [ { "id": "rs3389048290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048290" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Gly146", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792702", "evidence": [ { "id": "rs3389013834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013834" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1524", "end_pos": "1524", "site_lbl": "Gly1524", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56799705", "evidence": [ { "id": "rs3389048658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048658" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1597", "end_pos": "1597", "site_lbl": "Val1597", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800027", "evidence": [ { "id": "rs3389044660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044660" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1647", "end_pos": "1647", "site_lbl": "Val1647", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800280", "evidence": [ { "id": "rs220670939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220670939" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1653", "end_pos": "1653", "site_lbl": "Gln1653", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800297", "evidence": [ { "id": "rs3389036094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036094" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1654", "end_pos": "1654", "site_lbl": "Ala1654", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800301", "evidence": [ { "id": "rs3389048701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048701" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1671", "end_pos": "1671", "site_lbl": "Pro1671", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56803922", "evidence": [ { "id": "rs3389042592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042592" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1705", "end_pos": "1705", "site_lbl": "Cys1705", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804023", "evidence": [ { "id": "rs3389050714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050714" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Gln1707", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804029", "evidence": [ { "id": "rs3389048869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048869" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1731", "end_pos": "1731", "site_lbl": "Ala1731", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804382", "evidence": [ { "id": "rs3389055251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055251" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1736", "end_pos": "1736", "site_lbl": "Ala1736", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804396", "evidence": [ { "id": "rs250368644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250368644" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804396", "evidence": [ { "id": "rs250368644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250368644" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1756", "end_pos": "1756", "site_lbl": "Val1756", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804457", "evidence": [ { "id": "rs3389013816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013816" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1767", "end_pos": "1767", "site_lbl": "Val1767", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804489", "evidence": [ { "id": "rs3389048241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048241" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1774", "end_pos": "1774", "site_lbl": "Ala1774", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804510", "evidence": [ { "id": "rs3389036068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036068" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1783", "end_pos": "1783", "site_lbl": "Glu1783", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804537", "evidence": [ { "id": "rs3389044468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044468" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Ala1785", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804543", "evidence": [ { "id": "rs3400004277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400004277" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1786", "end_pos": "1786", "site_lbl": "Ala1786", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804546", "evidence": [ { "id": "rs229077867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229077867" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1813", "end_pos": "1813", "site_lbl": "Thr1813", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804627", "evidence": [ { "id": "rs3389036123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036123" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804628", "evidence": [ { "id": "rs3389044491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044491" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1818", "end_pos": "1818", "site_lbl": "Ala1818", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804643", "evidence": [ { "id": "rs3389053069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053069" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1831", "end_pos": "1831", "site_lbl": "Arg1831", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804682", "evidence": [ { "id": "rs3389044532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044532" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1867", "end_pos": "1867", "site_lbl": "Asp1867", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804789", "evidence": [ { "id": "rs3389021626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021626" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1872", "end_pos": "1872", "site_lbl": "Glu1872", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804806", "evidence": [ { "id": "rs3389013814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013814" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1883", "end_pos": "1883", "site_lbl": "Asn1883", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804839", "evidence": [ { "id": "rs3389021654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1885", "end_pos": "1885", "site_lbl": "Phe1885", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804845", "evidence": [ { "id": "rs3389048820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048820" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1893", "end_pos": "1893", "site_lbl": "Thr1893", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804868", "evidence": [ { "id": "rs3389013865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013865" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1932", "end_pos": "1932", "site_lbl": "Pro1932", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804984", "evidence": [ { "id": "rs3389050641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050641" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1952", "end_pos": "1952", "site_lbl": "Arg1952", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805045", "evidence": [ { "id": "rs211753867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211753867" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1964", "end_pos": "1964", "site_lbl": "Thr1964", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805080", "evidence": [ { "id": "rs235210984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235210984" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1991", "end_pos": "1991", "site_lbl": "Leu1991", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805162", "evidence": [ { "id": "rs3389044499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044499" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2022", "end_pos": "2022", "site_lbl": "Phe2022", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805256", "evidence": [ { "id": "rs233070804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233070804" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Ala2040", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805308", "evidence": [ { "id": "rs1134588878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134588878" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Val2044", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805320", "evidence": [ { "id": "rs3547349486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547349486" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2057", "end_pos": "2057", "site_lbl": "Gly2057", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805360", "evidence": [ { "id": "rs3389013820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013820" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Gly206", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792882", "evidence": [ { "id": "rs3389027339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027339" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2072", "end_pos": "2072", "site_lbl": "Val2072", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805404", "evidence": [ { "id": "rs3389036104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036104" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2094", "end_pos": "2094", "site_lbl": "Pro2094", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805470", "evidence": [ { "id": "rs3389055197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055197" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2105", "end_pos": "2105", "site_lbl": "Gly2105", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805504", "evidence": [ { "id": "rs252218285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252218285" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2121", "end_pos": "2121", "site_lbl": "Arg2121", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805552", "evidence": [ { "id": "rs219630206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219630206" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2122", "end_pos": "2122", "site_lbl": "Asp2122", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805553_56805554insTCCCGCTG", "evidence": [ { "id": "rs3400240126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400240126" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2133", "end_pos": "2133", "site_lbl": "Gly2133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805588", "evidence": [ { "id": "rs3389044542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044542" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Trp2152", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805645", "evidence": [ { "id": "rs3389048870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048870" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2155", "end_pos": "2155", "site_lbl": "Gly2155", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805653", "evidence": [ { "id": "rs3389048249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048249" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2169", "end_pos": "2169", "site_lbl": "Pro2169", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805696", "evidence": [ { "id": "rs3389021653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021653" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2175", "end_pos": "2175", "site_lbl": "Ser2175", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805713", "evidence": [ { "id": "rs3389055234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055234" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2182", "end_pos": "2182", "site_lbl": "Ser2182", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805734", "evidence": [ { "id": "rs255897013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255897013" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2185", "end_pos": "2185", "site_lbl": "Glu2185", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805745", "evidence": [ { "id": "rs32793885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32793885" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2187", "end_pos": "2187", "site_lbl": "Val2187", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805750", "evidence": [ { "id": "rs247532610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247532610" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2189", "end_pos": "2189", "site_lbl": "Thr2189", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805756", "evidence": [ { "id": "rs3389044688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044688" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2214", "end_pos": "2214", "site_lbl": "Ala2214", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805831", "evidence": [ { "id": "rs261376041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261376041" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2217", "end_pos": "2217", "site_lbl": "Gly2217", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805839", "evidence": [ { "id": "rs227550119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227550119" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2234", "end_pos": "2234", "site_lbl": "Val2234", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805890", "evidence": [ { "id": "rs3389048638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048638" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2235", "end_pos": "2235", "site_lbl": "Cys2235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805894", "evidence": [ { "id": "rs3389050701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050701" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2248", "end_pos": "2248", "site_lbl": "Leu2248", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805932", "evidence": [ { "id": "rs3389036121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036121" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2263", "end_pos": "2263", "site_lbl": "Gln2263", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805977", "evidence": [ { "id": "rs3389048832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048832" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2273", "end_pos": "2273", "site_lbl": "Leu2273", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56806007", "evidence": [ { "id": "rs3406005341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406005341" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2320", "end_pos": "2320", "site_lbl": "Leu2320", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56806148", "evidence": [ { "id": "rs51734042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51734042" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ala30", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772561", "evidence": [ { "id": "rs3389050709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050709" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ala332", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793261", "evidence": [ { "id": "rs3389042596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042596" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793260", "evidence": [ { "id": "rs3389044472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044472" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Arg334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793266", "evidence": [ { "id": "rs3547298573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547298573" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Gly342", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793290", "evidence": [ { "id": "rs3389053121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053121" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793398", "evidence": [ { "id": "rs235651251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235651251" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Glu397", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793457", "evidence": [ { "id": "rs3389053079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053079" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793456", "evidence": [ { "id": "rs3389048685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048685" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Gly444", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793596", "evidence": [ { "id": "rs3389013836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013836" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793600", "evidence": [ { "id": "rs32795054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32795054" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Leu457", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793635", "evidence": [ { "id": "rs3389044454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044454" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Leu459", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793642", "evidence": [ { "id": "rs3389053152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053152" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Val473", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793683", "evidence": [ { "id": "rs230897038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230897038" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Gln475", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793690", "evidence": [ { "id": "rs3389013813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013813" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ser476", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793692", "evidence": [ { "id": "rs32789814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32789814" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Leu487", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793726", "evidence": [ { "id": "rs265745216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265745216" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Gln539", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793881", "evidence": [ { "id": "rs3389042613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042613" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793975", "evidence": [ { "id": "rs3389042575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042575" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Cys588", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794029", "evidence": [ { "id": "rs3388994768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388994768" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Leu595", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794049", "evidence": [ { "id": "rs3389044524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044524" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Pro5", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772487", "evidence": [ { "id": "rs214455629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214455629" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772486", "evidence": [ { "id": "rs3389040599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040599" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Val624", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794137", "evidence": [ { "id": "rs221825677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221825677" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Val694", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794346", "evidence": [ { "id": "rs3389053138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053138" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Gln714", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794407", "evidence": [ { "id": "rs3389055205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055205" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "733", "end_pos": "733", "site_lbl": "His733", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794463", "evidence": [ { "id": "rs32789818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32789818" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Val742", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794490", "evidence": [ { "id": "rs3547260182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547260182" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Gln750", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794515", "evidence": [ { "id": "rs3389036112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036112" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Thr795", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794650", "evidence": [ { "id": "rs3399166654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399166654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "827", "end_pos": "827", "site_lbl": "His827", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794745", "evidence": [ { "id": "rs237822271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237822271" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Glu850", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794814", "evidence": [ { "id": "rs265875254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265875254" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Leu857", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794836", "evidence": [ { "id": "rs3389042548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042548" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Met868", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794869", "evidence": [ { "id": "rs3389048301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048301" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "887", "end_pos": "887", "site_lbl": "His887", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794926", "evidence": [ { "id": "rs3389013846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013846" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Pro890", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794934", "evidence": [ { "id": "rs3389050676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050676" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Ile898", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794958", "evidence": [ { "id": "rs3389021625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021625" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Gln91", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792537", "evidence": [ { "id": "rs3389040661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040661" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Glu943", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795093", "evidence": [ { "id": "rs3389050678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050678" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Gly948", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795108", "evidence": [ { "id": "rs3389027363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027363" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "949", "end_pos": "949", "site_lbl": "Lys949", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795112", "evidence": [ { "id": "rs253948427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253948427" } ] }, { "sequence_org": "K", "sequence_mut": "R*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795111_56795112ins", "evidence": [ { "id": "rs3389055233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055233" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Ala951", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795118", "evidence": [ { "id": "rs3389050699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050699" } ] }, { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795117", "evidence": [ { "id": "rs3389048631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048631" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Trp952", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795122", "evidence": [ { "id": "rs3389044701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044701" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795120", "evidence": [ { "id": "rs3389042545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042545" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "959", "end_pos": "959", "site_lbl": "Ser959", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795141", "evidence": [ { "id": "rs224513491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224513491" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2324", "end_pos": "2324", "site_lbl": "Gln2324", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "G", "comment": "No effect on interaction with GRIP1 and GRIP2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" }, { "database": "PubMed", "id": "12458226", "url": "https://glygen.org/publication/PubMed/12458226" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2325", "end_pos": "2325", "site_lbl": "Tyr2325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on interaction with GRIP1 and GRIP2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" }, { "database": "PubMed", "id": "12458226", "url": "https://glygen.org/publication/PubMed/12458226" } ] }, { "sequence_org": "Y", "sequence_mut": "G", "comment": "Loss of interaction with GRIP1 and GRIP2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" }, { "database": "PubMed", "id": "12458226", "url": "https://glygen.org/publication/PubMed/12458226" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2326", "end_pos": "2326", "site_lbl": "Trp2326", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Loss of interaction with GRIP1 and GRIP2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" }, { "database": "PubMed", "id": "12458226", "url": "https://glygen.org/publication/PubMed/12458226" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2327", "end_pos": "2327", "site_lbl": "Val2327", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Loss of interaction with GRIP1 and GRIP2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VHY0", "url": "https://www.uniprot.org/uniprotkb/Q8VHY0" }, { "database": "PubMed", "id": "12458226", "url": "https://glygen.org/publication/PubMed/12458226" } ] } ] } ], "record_id": "Q8VHY0-1" }, { "uniprot_canonical_ac": "Q9JLB4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3623, "chemical_mass": 399097.0, "gene_names": "Cubn;Cubn;D2Wsu88e;Ifcr", "protein_name": "Cubilin", "disease": [ { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "coated vesicle", "id": "GO:0030135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030135", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cobalamin transport", "id": "GO:0015889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015889", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "endocytic hemoglobin import into cell", "id": "GO:0020028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020028", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cobalamin catabolic process", "id": "GO:0042366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042366", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "hemoglobin binding", "id": "GO:0030492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030492", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cobalamin binding", "id": "GO:0031419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031419", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1043", "end_pos": "1043", "site_lbl": "Asn1043", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1043, "start_aa": "Asn", "end_pos": 1043, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1043", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1079", "end_pos": "1079", "site_lbl": "Thr1079", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1079, "start_aa": "Thr", "end_pos": 1079, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1079", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Asn1168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1168, "start_aa": "Asn", "end_pos": 1168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1168", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1217", "end_pos": "1217", "site_lbl": "Asn1217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00490MQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/Q9JLB4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G13749ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/Q9JLB4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G35510GA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/Q9JLB4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G44437FL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/Q9JLB4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "G51356MD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "GlyCosmos", "url": "https://glycosmos.org/glycoproteins/Q9JLB4" }, { "id": "GLY_001251", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001251" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1285", "end_pos": "1285", "site_lbl": "Asn1285", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1285, "start_aa": "Asn", "end_pos": 1285, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1285", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Asn1307", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1307, "start_aa": "Asn", "end_pos": 1307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1307", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NWT->SWT).", "chr_id": "2", "chr_pos": "13429580", "evidence": [ { "id": "rs235561820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235561820" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1319", "end_pos": "1319", "site_lbl": "Asn1319", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1319, "start_aa": "Asn", "end_pos": 1319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1319", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1332", "end_pos": "1332", "site_lbl": "Asn1332", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1332, "start_aa": "Asn", "end_pos": 1332, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1332", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1500", "end_pos": "1500", "site_lbl": "Asn1500", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GFNASWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1500, "start_aa": "Asn", "end_pos": 1500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1500", "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" } ] }, { "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": 1500, "start_aa": "Asn", "end_pos": 1500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1500", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1551", "end_pos": "1551", "site_lbl": "Asn1551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40926MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLLNITDFDLEATDSCLMTYDGSSSANTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1551, "start_aa": "Asn", "end_pos": 1551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1551", "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" } ] }, { "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": 1551, "start_aa": "Asn", "end_pos": 1551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1551", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1646", "end_pos": "1646", "site_lbl": "Asn1646", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1646, "start_aa": "Asn", "end_pos": 1646, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1646", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1802", "end_pos": "1802", "site_lbl": "Asn1802", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1802, "start_aa": "Asn", "end_pos": 1802, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1802", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1819", "end_pos": "1819", "site_lbl": "Asn1819", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1819, "start_aa": "Asn", "end_pos": 1819, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1819", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1967", "end_pos": "1967", "site_lbl": "Asn1967", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1967, "start_aa": "Asn", "end_pos": 1967, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1967", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2085", "end_pos": "2085", "site_lbl": "Asn2085", "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": 2085, "start_aa": "Asn", "end_pos": 2085, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2085", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2117", "end_pos": "2117", "site_lbl": "Asn2117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2117, "start_aa": "Asn", "end_pos": 2117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2117", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2274", "end_pos": "2274", "site_lbl": "Asn2274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2274, "start_aa": "Asn", "end_pos": 2274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2274", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2400", "end_pos": "2400", "site_lbl": "Asn2400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2400, "start_aa": "Asn", "end_pos": 2400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2400", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2531", "end_pos": "2531", "site_lbl": "Asn2531", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2531, "start_aa": "Asn", "end_pos": 2531, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2531", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2581", "end_pos": "2581", "site_lbl": "Asn2581", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2581, "start_aa": "Asn", "end_pos": 2581, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2581", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2610", "end_pos": "2610", "site_lbl": "Asn2610", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2610, "start_aa": "Asn", "end_pos": 2610, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2610", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2813", "end_pos": "2813", "site_lbl": "Asn2813", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2813, "start_aa": "Asn", "end_pos": 2813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2813", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2925", "end_pos": "2925", "site_lbl": "Asn2925", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TFNSSTGDIVSPNFPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2925, "start_aa": "Asn", "end_pos": 2925, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2925", "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" } ] }, { "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": 2925, "start_aa": "Asn", "end_pos": 2925, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2925", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2989", "end_pos": "2989", "site_lbl": "Asn2989", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GHNLSSTPLVTICGSETLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2989, "start_aa": "Asn", "end_pos": 2989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2989", "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" } ] }, { "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": 2989, "start_aa": "Asn", "end_pos": 2989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2989", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3106", "end_pos": "3106", "site_lbl": "Asn3106", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3106, "start_aa": "Asn", "end_pos": 3106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3106", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3125", "end_pos": "3125", "site_lbl": "Asn3125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "STNNSLTLLFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3125, "start_aa": "Asn", "end_pos": 3125, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3125", "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" } ] }, { "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": 3125, "start_aa": "Asn", "end_pos": 3125, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3125", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3268", "end_pos": "3268", "site_lbl": "Asn3268", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3268, "start_aa": "Asn", "end_pos": 3268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3268", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3283", "end_pos": "3283", "site_lbl": "Asn3283", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3283, "start_aa": "Asn", "end_pos": 3283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3283", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3290", "end_pos": "3290", "site_lbl": "Asn3290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3290, "start_aa": "Asn", "end_pos": 3290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3290", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3357", "end_pos": "3357", "site_lbl": "Asn3357", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3357, "start_aa": "Asn", "end_pos": 3357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3357", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3457", "end_pos": "3457", "site_lbl": "Asn3457", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGSSSSSPLLGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3457, "start_aa": "Asn", "end_pos": 3457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3457", "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" } ] }, { "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": 3457, "start_aa": "Asn", "end_pos": 3457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3457", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3533", "end_pos": "3533", "site_lbl": "Asn3533", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3533, "start_aa": "Asn", "end_pos": 3533, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3533", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Asn491", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 491, "start_aa": "Asn", "end_pos": 491, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn491", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Asn711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 711, "start_aa": "Asn", "end_pos": 711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn711", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Asn749", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 749, "start_aa": "Asn", "end_pos": 749, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn749", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Asn781", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 781, "start_aa": "Asn", "end_pos": 781, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn781", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Asn857", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 857, "start_aa": "Asn", "end_pos": 857, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn857", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "957", "end_pos": "957", "site_lbl": "Asn957", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 957, "start_aa": "Asn", "end_pos": 957, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn957", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "Q9JLB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3008", "end_pos": "3008", "site_lbl": "Thr3008", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB4", "url": "https://www.uniprot.org/uniprotkb/Q9JLB4" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1287", "end_pos": "1287", "site_lbl": "Thr1287", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->NKI).", "chr_id": "2", "chr_pos": "13429640", "evidence": [ { "id": "rs3388531230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531230" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Ile1477", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "2", "chr_pos": "13388776", "evidence": [ { "id": "rs3388530055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530055" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "2877", "end_pos": "2877", "site_lbl": "Ala2877", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "2", "chr_pos": "13319590", "evidence": [ { "id": "rs224737988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224737988" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "3359", "end_pos": "3359", "site_lbl": "Thr3359", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "2", "chr_pos": "13288896", "evidence": [ { "id": "rs3413011204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413011204" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "2", "chr_pos": "13473654", "evidence": [ { "id": "rs1134580859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134580859" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->NCK).", "chr_id": "2", "chr_pos": "13473653", "evidence": [ { "id": "rs1134246150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134246150" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB4-1", "start_pos": "986", "end_pos": "986", "site_lbl": "Ala986", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCA->NCT).", "chr_id": "2", "chr_pos": "13449118", "evidence": [ { "id": "rs263577318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263577318" } ] } ] } ], "record_id": "Q9JLB4-1" }, { "uniprot_canonical_ac": "Q9Z0D9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 354, "chemical_mass": 40266.0, "gene_names": "Cx3cr1;Cx3cr1;mCX3CR1", "protein_name": "CX3C chemokine receptor 1", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0110024", "name": "age related macular degeneration 12", "description": "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0110024", "evidence": [ { "id": "0110024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110024" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.", "url": "https://disease-ontology.org/term/DOID:11563", "evidence": [ { "id": "11563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "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: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 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "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: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: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: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of microglial cell migration", "id": "GO:1904141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904141", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "microglial cell activation involved in immune response", "id": "GO:0002282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002282", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of chronic inflammatory response to non-antigenic stimulus", "id": "GO:0002881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "antifungal innate immune response", "id": "GO:0061760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061760", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "autocrine signaling", "id": "GO:0035425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035425", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "multiple spine synapse organization, single dendrite", "id": "GO:0150090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of hippocampal neuron apoptotic process", "id": "GO:0110091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110091", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "host-mediated modulation of intestinal microbiota composition", "id": "GO:0048874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048874", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "central nervous system maturation", "id": "GO:0021626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021626", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of microglial cell mediated cytotoxicity", "id": "GO:1904150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904150", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" } ], "cellular_component": [ { "name": "dendritic tree", "id": "GO:0097447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097447", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" } ], "molecular_function": [ { "name": "CX3C chemokine receptor binding", "id": "GO:0031737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "chemokine receptor activity", "id": "GO:0004950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004950", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "C-X3-C chemokine receptor activity", "id": "GO:0016495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016495", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "C-X3-C chemokine binding", "id": "GO:0019960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019960", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0D9-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Thr345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0D9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0D9" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0D9-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Arg128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Abolished activity without affecting avility to bind CX3CL1.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" }, { "database": "PubMed", "id": "10187784", "url": "https://glygen.org/publication/PubMed/10187784" } ] } ] } ], "record_id": "Q9Z0D9-1" }, { "uniprot_canonical_ac": "Q9Z125-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 519, "chemical_mass": 56959.0, "gene_names": "Creb3l1;Creb3l1;Oasis", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 1", "disease": [ { "disease_id": "DOID:0110345", "name": "osteogenesis imperfecta type 16", "description": "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:0110345", "evidence": [ { "id": "0110345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110345" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035497", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "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": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "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": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "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": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "extracellular matrix constituent secretion", "id": "GO:0070278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070278", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Thr207", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 207, "start_aa": "Thr", "end_pos": 207, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr207", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Asn343", "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": "VETLETANR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 343, "start_aa": "Asn", "end_pos": 343, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn343", "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": "Q9Z125-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Asn493", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 493, "start_aa": "Asn", "end_pos": 493, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn493", "evidence": [ { "id": "Q9Z125", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z125#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Asn498", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 498, "start_aa": "Asn", "end_pos": 498, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn498", "evidence": [ { "id": "Q9Z125", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z125#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Asn513", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DLGPNTTIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 513, "start_aa": "Asn", "end_pos": 513, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn513", "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" } ] }, { "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": 513, "start_aa": "Asn", "end_pos": 513, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn513", "evidence": [ { "id": "Q9Z125", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z125#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "2", "chr_pos": "91832261", "evidence": [ { "id": "rs3388564479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564479" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Pro392", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Loss of proteolytic cleavage; when associated with V-423 and V-426.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" }, { "database": "PubMed", "id": "15665855", "url": "https://glygen.org/publication/PubMed/15665855" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Arg423", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of proteolytic cleavage; when associated with L-392 and V-426.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" }, { "database": "PubMed", "id": "15665855", "url": "https://glygen.org/publication/PubMed/15665855" } ] } ] }, { "uniprot_canonical_ac": "Q9Z125-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Leu426", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Loss of proteolytic cleavage; when associated with L-392 and A-423.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z125", "url": "https://www.uniprot.org/uniprotkb/Q9Z125" }, { "database": "PubMed", "id": "15665855", "url": "https://glygen.org/publication/PubMed/15665855" } ] } ] } ], "record_id": "Q9Z125-1" }, { "uniprot_canonical_ac": "P19096-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2504, "chemical_mass": 272428.0, "gene_names": "Fasn;A630082H08Rik;FAS;Fasn", "protein_name": "Fatty acid synthase", "disease": [ { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "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 } ], "biological_process": [ { "name": "neutrophil differentiation", "id": "GO:0030223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030223", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "ether lipid biosynthetic process", "id": "GO:0008611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008611", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty-acyl-CoA biosynthetic process", "id": "GO:0046949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046949", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "establishment of endothelial intestinal barrier", "id": "GO:0090557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090557", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral process", "id": "GO:0044788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044788", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "glycogen granule", "id": "GO:0042587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042587", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty acid synthase complex", "id": "GO:0005835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005835", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "phosphopantetheine binding", "id": "GO:0031177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031177", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty acid synthase activity", "id": "GO:0004312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004312", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "[acyl-carrier-protein] S-acetyltransferase activity", "id": "GO:0004313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004313", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "[acyl-carrier-protein] S-malonyltransferase activity", "id": "GO:0004314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004314", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "3-oxoacyl-[acyl-carrier-protein] synthase activity", "id": "GO:0004315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004315", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity", "id": "GO:0004316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004316", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "fatty acyl-[ACP] hydrolase activity", "id": "GO:0016297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016297", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "(3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity", "id": "GO:0019171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019171", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" }, { "name": "enoyl-[acyl-carrier-protein] reductase (NADPH) activity", "id": "GO:0141148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141148", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P19096-1", "start_pos": "1469", "end_pos": "1469", "site_lbl": "Asn1469", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G13144LI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CILLSNLSNTSHAPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1469, "start_aa": "Asn", "end_pos": 1469, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1469", "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": "P19096-1", "start_pos": "1483", "end_pos": "1483", "site_lbl": "Ser1483", "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": 1483, "start_aa": "Ser", "end_pos": 1483, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1483", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P19096", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P19096" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "39950311", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39950311" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "2456", "end_pos": "2456", "site_lbl": "Asn2456", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31028YV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TGGTYGEDLGADYNLSQVCDGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2456, "start_aa": "Asn", "end_pos": 2456, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2456", "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": "P19096-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Thr462", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 462, "start_aa": "Thr", "end_pos": 462, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr462", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Thr976", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 976, "start_aa": "Thr", "end_pos": 976, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr976", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "1577", "end_pos": "1577", "site_lbl": "Ser1577", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Ser1587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "2150", "end_pos": "2150", "site_lbl": "Ser2150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "2190", "end_pos": "2190", "site_lbl": "Ser2190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "2229", "end_pos": "2229", "site_lbl": "Ser2229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Ser725", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19096", "url": "https://www.uniprot.org/uniprotkb/P19096" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19096", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19096" } ] } ] }, { "uniprot_canonical_ac": "P19096-1", "start_pos": "2458", "end_pos": "2458", "site_lbl": "Ser2458", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLF).", "chr_id": "11", "chr_pos": "120698905", "evidence": [ { "id": "rs3389225307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225307" } ] } ] } ], "record_id": "P19096-1" }, { "uniprot_canonical_ac": "Q9D172-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D172", "url": "https://www.uniprot.org/uniprotkb/Q9D172" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 266, "chemical_mass": 28090.0, "gene_names": "Gatd3a;Gatd3;C21orf33;D10Jhu81e;ES1;Gatd3a;Gatd3", "protein_name": "Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D172", "url": "https://www.uniprot.org/uniprotkb/Q9D172" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D172-1" }, { "uniprot_canonical_ac": "Q8BH16-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 423, "chemical_mass": 46890.0, "gene_names": "Fbxl2;2810423A21Rik;Fbl3;Fbxl2", "protein_name": "F-box/LRR-repeat protein 2", "disease": [], "biological_process": [ { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral RNA genome replication", "id": "GO:0044830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044830", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit binding", "id": "GO:0036312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036312", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BH16-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Asn145", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HLDLTSCVSVTNSSLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "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": "Q8BH16-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Thr404", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 404, "start_aa": "Thr", "end_pos": 404, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr404", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" }, { "database": "iPTMnet", "id": "Q8BH16", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH16" }, { "database": "PubMed", "id": "23542741", "url": "https://glygen.org/publication/PubMed/23542741" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolished phosphorylation by GSK3B, preventing ubiquitination by the SCF(FBXO3) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q8BH16", "url": "https://www.uniprot.org/uniprotkb/Q8BH16" }, { "database": "PubMed", "id": "23542741", "url": "https://glygen.org/publication/PubMed/23542741" } ] } ] } ], "record_id": "Q8BH16-1" }, { "uniprot_canonical_ac": "Q3TPX4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 708, "chemical_mass": 81738.0, "gene_names": "Exoc5;Exoc5;Gm76;PRO1912;SEC10;Sec10l1", "protein_name": "Exocyst complex component 5", "disease": [ { "disease_id": "DOID:0070314", "name": "obstructive nephropathy", "description": "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:0070314", "evidence": [ { "id": "0070314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070314" } ], "weight": 0.0 }, { "disease_id": "DOID:0080332", "name": "bicuspid aortic valve disease", "description": "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.", "url": "https://disease-ontology.org/term/DOID:0080332", "evidence": [ { "id": "0080332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080332" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "exocyst", "id": "GO:0000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000145", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "vesicle docking involved in exocytosis", "id": "GO:0006904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" }, { "name": "vesicle tethering involved in exocytosis", "id": "GO:0090522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090522", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TPX4-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TPX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TPX4" } ] } ] }, { "uniprot_canonical_ac": "Q3TPX4-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Thr395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ] } ] }, { "uniprot_canonical_ac": "Q3TPX4-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ] } ] }, { "uniprot_canonical_ac": "Q3TPX4-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TPX4", "url": "https://www.uniprot.org/uniprotkb/Q3TPX4" } ] } ] } ], "record_id": "Q3TPX4-1" }, { "uniprot_canonical_ac": "P26883-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 108, "chemical_mass": 11923.0, "gene_names": "Fkbp1a;FKBP12;Fkbp1a;Fkbp1;Fkbp", "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP1A", "disease": [ { "disease_id": "DOID:0050476", "name": "Barth syndrome", "description": "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.", "url": "https://disease-ontology.org/term/DOID:0050476", "evidence": [ { "id": "0050476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050476" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor inhibitor activity", "id": "GO:0030547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030547", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor binding", "id": "GO:0005160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005160", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "type I transforming growth factor beta receptor binding", "id": "GO:0034713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034713", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "FK506 binding", "id": "GO:0005528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005528", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "cytoplasmic side of membrane", "id": "GO:0098562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098562", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "ryanodine receptor complex", "id": "GO:1990425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990425", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "P26883", "url": "https://www.uniprot.org/uniprotkb/P26883" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P26883-1" }, { "uniprot_canonical_ac": "Q8BNA6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4555, "chemical_mass": 502011.0, "gene_names": "Fat3;9430076A06Rik;D430038H04Rik;Fat3;Gm1132;Gm510;MFAT3F", "protein_name": "Protocadherin Fat 3", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" } ], "biological_process": [ { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "cell morphogenesis involved in neuron differentiation", "id": "GO:0048667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048667", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" }, { "name": "regulation of plasma membrane bounded cell projection organization", "id": "GO:0120035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120035", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8BNA6", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Asn1006", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1006, "start_aa": "Asn", "end_pos": 1006, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1006", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2655", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2655" } ] }, { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QQFYNLTVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1006, "start_aa": "Asn", "end_pos": 1006, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1006", "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" } ] }, { "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": 1006, "start_aa": "Asn", "end_pos": 1006, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1006", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Asn1367", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1429", "end_pos": "1429", "site_lbl": "Asn1429", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1429, "start_aa": "Asn", "end_pos": 1429, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1429", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NMS->IMS).", "chr_id": "9", "chr_pos": "15932658", "evidence": [ { "id": "rs3389023523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023523" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1751", "end_pos": "1751", "site_lbl": "Asn1751", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1751, "start_aa": "Asn", "end_pos": 1751, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1751", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1944", "end_pos": "1944", "site_lbl": "Asn1944", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1944, "start_aa": "Asn", "end_pos": 1944, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1944", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1993", "end_pos": "1993", "site_lbl": "Asn1993", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G03644CB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAMDSGLHFTQSFYSTSISENSTNITK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1993, "start_aa": "Asn", "end_pos": 1993, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1993", "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" } ] }, { "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": 1993, "start_aa": "Asn", "end_pos": 1993, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1993", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "1996", "end_pos": "1996", "site_lbl": "Asn1996", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1996, "start_aa": "Asn", "end_pos": 1996, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1996", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2208", "end_pos": "2208", "site_lbl": "Asn2208", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2208, "start_aa": "Asn", "end_pos": 2208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2208", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2292", "end_pos": "2292", "site_lbl": "Asn2292", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2292, "start_aa": "Asn", "end_pos": 2292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2292", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->DTT).", "chr_id": "9", "chr_pos": "15909139", "evidence": [ { "id": "rs3389023947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023947" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2331", "end_pos": "2331", "site_lbl": "Asn2331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2331, "start_aa": "Asn", "end_pos": 2331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2331", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2467", "end_pos": "2467", "site_lbl": "Asn2467", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G53434XO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MEPLYSLNVSVSDGLFTSTAQVHIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2467, "start_aa": "Asn", "end_pos": 2467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2467", "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" } ] }, { "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": 2467, "start_aa": "Asn", "end_pos": 2467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2467", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2734", "end_pos": "2734", "site_lbl": "Asn2734", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILPNQSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2734, "start_aa": "Asn", "end_pos": 2734, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2734", "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" } ] }, { "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": 2734, "start_aa": "Asn", "end_pos": 2734, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2734", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3000", "end_pos": "3000", "site_lbl": "Asn3000", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3000, "start_aa": "Asn", "end_pos": 3000, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3000", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3201", "end_pos": "3201", "site_lbl": "Asn3201", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EQQSSYNISVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3201, "start_aa": "Asn", "end_pos": 3201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3201", "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" } ] }, { "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": 3201, "start_aa": "Asn", "end_pos": 3201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3201", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Asn341", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3449", "end_pos": "3449", "site_lbl": "Asn3449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3449, "start_aa": "Asn", "end_pos": 3449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3449", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3618", "end_pos": "3618", "site_lbl": "Asn3618", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YVLNVSVSDGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3618, "start_aa": "Asn", "end_pos": 3618, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3618", "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" } ] }, { "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": 3618, "start_aa": "Asn", "end_pos": 3618, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3618", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3741", "end_pos": "3741", "site_lbl": "Asn3741", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NCSGLDCQEQHCEQGLSLDSHALMTYSTAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3741, "start_aa": "Asn", "end_pos": 3741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3741", "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" } ] }, { "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": 3741, "start_aa": "Asn", "end_pos": 3741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3741", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3926", "end_pos": "3926", "site_lbl": "Asn3926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFTSLALDDSYVER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3926, "start_aa": "Asn", "end_pos": 3926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3926", "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" } ] }, { "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": 3926, "start_aa": "Asn", "end_pos": 3926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3926", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "4090", "end_pos": "4090", "site_lbl": "Thr4090", "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": 4090, "start_aa": "Thr", "end_pos": 4090, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr4090", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BNA6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BNA6" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 481, "start_aa": "Asn", "end_pos": 481, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn481", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Asn562", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HESEVNVTIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "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" } ] }, { "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": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Asn667", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ITATDGENFADPMAINISVLHGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 667, "start_aa": "Asn", "end_pos": 667, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn667", "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" } ] }, { "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": 667, "start_aa": "Asn", "end_pos": 667, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn667", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Asn799", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 799, "start_aa": "Asn", "end_pos": 799, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn799", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2655", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2655" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EHTDLYVLNITIYDLGKPQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 799, "start_aa": "Asn", "end_pos": 799, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn799", "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" } ] }, { "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": 799, "start_aa": "Asn", "end_pos": 799, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn799", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Asn879", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 879, "start_aa": "Asn", "end_pos": 879, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn879", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Asn898", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 898, "start_aa": "Asn", "end_pos": 898, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn898", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2655", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2655" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 898, "start_aa": "Asn", "end_pos": 898, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn898", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2655", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2655" } ] }, { "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": 898, "start_aa": "Asn", "end_pos": 898, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn898", "evidence": [ { "id": "Q8BNA6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BNA6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "2389", "end_pos": "2389", "site_lbl": "Asn2389", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDT).", "chr_id": "9", "chr_pos": "15908847", "evidence": [ { "id": "rs46229354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46229354" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3049", "end_pos": "3049", "site_lbl": "Lys3049", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "9", "chr_pos": "15901889", "evidence": [ { "id": "rs3389023556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023556" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "3113", "end_pos": "3113", "site_lbl": "Ser3113", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "9", "chr_pos": "15899706", "evidence": [ { "id": "rs3389031365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389031365" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "4271", "end_pos": "4271", "site_lbl": "Ile4271", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "9", "chr_pos": "15833791", "evidence": [ { "id": "rs3389023913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023913" } ] } ] }, { "uniprot_canonical_ac": "Q8BNA6-1", "start_pos": "4330", "end_pos": "4330", "site_lbl": "Ser4330", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "9", "chr_pos": "15830516", "evidence": [ { "id": "rs3389018245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389018245" } ] } ] } ], "record_id": "Q8BNA6-1" }, { "uniprot_canonical_ac": "Q8K2Y3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K2Y3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 164, "chemical_mass": 18291.0, "gene_names": "Eva1b;2610027C15Rik;Eva1b;Fam176b", "protein_name": "Protein eva-1 homolog B", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K2Y3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2Y3-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K2Y3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2Y3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K2Y3-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Thr157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K2Y3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2Y3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K2Y3-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Thr86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K2Y3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K2Y3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K2Y3" } ] } ] } ], "record_id": "Q8K2Y3-1" }, { "uniprot_canonical_ac": "O08689-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 376, "chemical_mass": 42921.0, "gene_names": "Mstn;Cmpt;Gdf8;Mstn", "protein_name": "Growth/differentiation factor 8", "disease": [ { "disease_id": "DOID:0070418", "name": "vertebral hypersegmentation and orofacial anomalies", "description": "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0070418", "evidence": [ { "id": "0070418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070418" } ], "weight": 0.0 }, { "disease_id": "DOID:0111072", "name": "myostatin-related muscle hypertrophy", "description": "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0111072", "evidence": [ { "id": "0111072", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111072" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "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: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 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "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": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "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": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "skeletal muscle atrophy", "id": "GO:0014732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014732", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "ovulation cycle process", "id": "GO:0022602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022602", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of kinase activity", "id": "GO:0033673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "myoblast migration involved in skeletal muscle regeneration", "id": "GO:0014839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014839", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of muscle hypertrophy", "id": "GO:0014741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014741", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle tissue growth", "id": "GO:0048632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048632", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of myoblast proliferation", "id": "GO:2000818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000818", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "response to gravity", "id": "GO:0009629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009629", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle satellite cell proliferation", "id": "GO:1902723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902723", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "negative regulation of satellite cell differentiation", "id": "GO:1902725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902725", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08689-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "O08689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08689#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08689-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asp100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Blocks proteolytic cleavage; increases muscle mass when injected into adult mice.", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" }, { "database": "PubMed", "id": "14671324", "url": "https://glygen.org/publication/PubMed/14671324" } ] } ] }, { "uniprot_canonical_ac": "O08689-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Arg99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "No effect on proteolytic cleavage.", "evidence": [ { "database": "UniProtKB", "id": "O08689", "url": "https://www.uniprot.org/uniprotkb/O08689" }, { "database": "PubMed", "id": "14671324", "url": "https://glygen.org/publication/PubMed/14671324" } ] } ] } ], "record_id": "O08689-1" }, { "uniprot_canonical_ac": "Q8BMP6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 525, "chemical_mass": 60181.0, "gene_names": "Acbd3;60kDa;8430407O11Rik;Acbd3;D1Ertd10e;GCP60;GOLPH1;Gcp60;Gocap1;Pap7", "protein_name": "Golgi resident protein GCP60", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" }, { "name": "protein kinase A regulatory subunit binding", "id": "GO:0034237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034237", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" } ], "biological_process": [ { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BMP6-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ] } ] }, { "uniprot_canonical_ac": "Q8BMP6-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ] } ] }, { "uniprot_canonical_ac": "Q8BMP6-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ] } ] }, { "uniprot_canonical_ac": "Q8BMP6-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMP6", "url": "https://www.uniprot.org/uniprotkb/Q8BMP6" } ] } ] } ], "record_id": "Q8BMP6-1" }, { "uniprot_canonical_ac": "Q9QYY0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 695, "chemical_mass": 76812.0, "gene_names": "Gab1;Gab1", "protein_name": "GRB2-associated-binding protein 1", "disease": [ { "disease_id": "DOID:0110484", "name": "autosomal recessive nonsyndromic deafness 26", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31.", "url": "https://disease-ontology.org/term/DOID:0110484", "evidence": [ { "id": "0110484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110484" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to hepatocyte growth factor", "id": "GO:0035728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035728", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "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": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "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": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "labyrinthine layer development", "id": "GO:0060711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060711", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Thr312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 312, "start_aa": "Thr", "end_pos": 312, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr312", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Thr322", "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": 322, "start_aa": "Thr", "end_pos": 322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr322", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYY0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYY0" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Thr365", "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": 365, "start_aa": "Thr", "end_pos": 365, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr365", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "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": 402, "start_aa": "Ser", "end_pos": 402, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser402", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q9QYY0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QYY0" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Thr412", "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": 412, "start_aa": "Thr", "end_pos": 412, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr412", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "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": 415, "start_aa": "Ser", "end_pos": 415, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser415", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "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": 568, "start_aa": "Ser", "end_pos": 568, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser568", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Ser573", "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": 573, "start_aa": "Ser", "end_pos": 573, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser573", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Ser576", "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": 576, "start_aa": "Ser", "end_pos": 576, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser576", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Ser607", "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": 607, "start_aa": "Ser", "end_pos": 607, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser607", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Ser609", "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": 609, "start_aa": "Ser", "end_pos": 609, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser609", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Ser614", "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": 614, "start_aa": "Ser", "end_pos": 614, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser614", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ser615", "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": 615, "start_aa": "Ser", "end_pos": 615, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser615", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9QYY0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Tyr242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Tyr285", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Tyr373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Thr388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Tyr448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Tyr473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Tyr590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Tyr628", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Thr639", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Tyr660", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P15208-1", "kinase_gene_name": "Insr", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "10978177", "url": "https://glygen.org/publication/PubMed/10978177" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYY0", "url": "https://www.uniprot.org/uniprotkb/Q9QYY0" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Tyr83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9QYY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYY0" }, { "database": "PubMed", "id": "23521888", "url": "https://glygen.org/publication/PubMed/23521888" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "8", "chr_pos": "81511456", "evidence": [ { "id": "rs3388945446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388945446" } ] } ] }, { "uniprot_canonical_ac": "Q9QYY0-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Asp561", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "8", "chr_pos": "81501564", "evidence": [ { "id": "rs3388993193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388993193" } ] } ] } ], "record_id": "Q9QYY0-1" }, { "uniprot_canonical_ac": "P26049-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 55398.0, "gene_names": "Gabra3;Gabra-3;Gabra3", "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-3", "disease": [ { "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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" } ], "biological_process": [ { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" } ], "molecular_function": [ { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "GABA-gated chloride ion channel activity", "id": "GO:0022851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022851", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "id": "GO:0099507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099507", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" }, { "name": "extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005230", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26049-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asn163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G32156ZV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8G5F&bu=0&command=select+.A:135;+center+selection;+zoom+selection" }, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "8G5F", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5F" }, { "id": "8G5F", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5F" }, { "id": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8G5F|A|135", "database": "", "url": "" }, { "id": "8G5H|A|135", "database": "", "url": "" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G58596DI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KSVAHNMTTPNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "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": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "P26049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26049#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asn176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LVDNGTLLYTMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "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" } ] }, { "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": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "P26049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26049#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Asn228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NKSVEVAQDGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 228, "start_aa": "Asn", "end_pos": 228, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn228", "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" } ] }, { "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": 228, "start_aa": "Asn", "end_pos": 228, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn228", "evidence": [ { "id": "P26049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26049#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKS->DKS).", "chr_id": "X", "chr_pos": "71503291", "evidence": [ { "id": "rs3389529091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389529091" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asn63", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HAPDIPDDSTDNITIFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2322", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2322" } ] }, { "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": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "P26049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26049#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Ser426", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26049" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Thr427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26049" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "P26049", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P26049" }, { "database": "iPTMnet", "id": "P26049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26049" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26049", "url": "https://www.uniprot.org/uniprotkb/P26049" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26049" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Thr178", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "X", "chr_pos": "71544703", "evidence": [ { "id": "rs3389529119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389529119" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "X", "chr_pos": "71488959", "evidence": [ { "id": "rs3410688176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410688176" } ] } ] }, { "uniprot_canonical_ac": "P26049-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TKT->NKT).", "chr_id": "X", "chr_pos": "71478397", "evidence": [ { "id": "rs3389555200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389555200" } ] } ] } ], "record_id": "P26049-1" }, { "uniprot_canonical_ac": "E9PVA8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2671, "chemical_mass": 293021.0, "gene_names": "Gcn1;4932409G22;G431004K08Rik;GCN1L;Gcn1l1;Gcn1;mKIAA0219", "protein_name": "Stalled ribosome sensor GCN1", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "translational elongation", "id": "GO:0006414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006414", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "GCN2-mediated signaling", "id": "GO:0140469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140469", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "protein-RNA covalent cross-linking repair", "id": "GO:0160127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160127", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase regulator activity", "id": "GO:0055106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055106", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "stalled ribosome sensor activity", "id": "GO:0170011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170011", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PVA8-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Thr1350", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1350, "start_aa": "Thr", "end_pos": 1350, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1350", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PVA8-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Asn1489", "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": "AVMSNLSAHGVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1489, "start_aa": "Asn", "end_pos": 1489, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1489", "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": "E9PVA8-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Asn720", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ITTQSPLNQSSMNAMGSLSVLSPDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 720, "start_aa": "Asn", "end_pos": 720, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn720", "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": "E9PVA8-1", "start_pos": "2276", "end_pos": "2276", "site_lbl": "Ser2276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ] } ] }, { "uniprot_canonical_ac": "E9PVA8-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ] } ] }, { "uniprot_canonical_ac": "E9PVA8-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Ser786", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PVA8", "url": "https://www.uniprot.org/uniprotkb/E9PVA8" } ] } ] }, { "uniprot_canonical_ac": "E9PVA8-1", "start_pos": "1992", "end_pos": "1992", "site_lbl": "Lys1992", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "5", "chr_pos": "115750793", "evidence": [ { "id": "rs3388769514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769514" } ] } ] } ], "record_id": "E9PVA8-1" }, { "uniprot_canonical_ac": "O88741-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 358, "chemical_mass": 41311.0, "gene_names": "Gdap1;Gdap1", "protein_name": "Ganglioside-induced differentiation-associated protein 1", "disease": [ { "disease_id": "DOID:0051028", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis", "description": "A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0051028", "evidence": [ { "id": "0051028", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051028" } ], "weight": 0.0 }, { "disease_id": "DOID:0110167", "name": "Charcot-Marie-Tooth disease axonal type 2K", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.", "url": "https://disease-ontology.org/term/DOID:0110167", "evidence": [ { "id": "0110167", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110167" } ], "weight": 0.0 }, { "disease_id": "DOID:0110182", "name": "Charcot-Marie-Tooth disease axonal type 2C", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0110182", "evidence": [ { "id": "0110182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110182" } ], "weight": 0.0 }, { "disease_id": "DOID:0110185", "name": "Charcot-Marie-Tooth disease type 4A", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.", "url": "https://disease-ontology.org/term/DOID:0110185", "evidence": [ { "id": "0110185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110185" } ], "weight": 0.0 }, { "disease_id": "DOID:0110201", "name": "Charcot-Marie-Tooth disease recessive intermediate A", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.", "url": "https://disease-ontology.org/term/DOID:0110201", "evidence": [ { "id": "0110201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110201" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" } ], "biological_process": [ { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "O88741", "url": "https://www.uniprot.org/uniprotkb/O88741" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88741-1" }, { "uniprot_canonical_ac": "P22723-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 55099.0, "gene_names": "Gabrg2;GABAA-R;Gabrg-2;Gabrg2;gamma2", "protein_name": "Gamma-aminobutyric acid receptor subunit gamma-2", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060170", "name": "generalized epilepsy with febrile seizures plus", "description": "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.", "url": "https://disease-ontology.org/term/DOID:0060170", "evidence": [ { "id": "0060170", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060170" } ], "weight": 0.0 }, { "disease_id": "DOID:0111298", "name": "familial febrile seizures 8", "description": "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.", "url": "https://disease-ontology.org/term/DOID:0111298", "evidence": [ { "id": "0111298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111298" } ], "weight": 0.0 }, { "disease_id": "DOID:0112210", "name": "developmental and epileptic encephalopathy 74", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.", "url": "https://disease-ontology.org/term/DOID:0112210", "evidence": [ { "id": "0112210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112210" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1825", "name": "childhood absence epilepsy", "description": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.", "url": "https://disease-ontology.org/term/DOID:1825", "evidence": [ { "id": "1825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1825" } ], "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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "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": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "GABA receptor complex", "id": "GO:1902710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902710", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" } ], "biological_process": [ { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "cellular response to histamine", "id": "GO:0071420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071420", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "cellular response to zinc ion", "id": "GO:0071294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071294", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "GABA-gated chloride ion channel activity", "id": "GO:0022851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022851", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P22723-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "24213971", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24213971" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "P22723-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Asn128", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G82347DR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LKFNSTIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "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" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=8FOI&bu=0&command=select+.D:90;+center+selection;+zoom+selection" }, "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "P22723", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22723#ptm_processing" }, { "id": "8FOI", "database": "PDB", "url": "https://www.rcsb.org/structure/8FOI" }, { "id": "8FOI", "database": "PDB", "url": "https://www.rcsb.org/structure/8FOI" }, { "id": "8G4N", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4N" }, { "id": "8G4N", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4N" }, { "id": "8G4O", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4O" }, { "id": "8G4O", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4O" }, { "id": "8G4X", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4X" }, { "id": "8G4X", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4X" }, { "id": "8G5G", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5G" }, { "id": "8G5G", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5G" }, { "id": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8FOI|D|90", "database": "", "url": "" }, { "id": "8G4N|D|90", "database": "", "url": "" }, { "id": "8G4O|D|90", "database": "", "url": "" }, { "id": "8G4X|D|90", "database": "", "url": "" }, { "id": "8G5G|D|90", "database": "", "url": "" }, { "id": "8G5H|D|90", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P22723-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "24213971", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24213971" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "RLIMS-G_1.0;GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" }, { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "P22723-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NTTEVVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "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" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2327", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2327" } ] }, { "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": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "P22723", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22723#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P22723-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Asn400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G58087IP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SATIQMNNATHLQER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 400, "start_aa": "Asn", "end_pos": 400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn400", "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": "P22723-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Asn51", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SDDDYEDYASNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "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" } ] }, { "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": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "P22723", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22723#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P22723-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P22723", "url": "https://www.uniprot.org/uniprotkb/P22723" } ] } ] } ], "record_id": "P22723-1" }, { "uniprot_canonical_ac": "P43028-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 454, "chemical_mass": 50942.0, "gene_names": "Gdf6;BMP-13;BMP13;Bmp13;GDF16;Gdf-6;Gdf16;Gdf6", "protein_name": "Growth/differentiation factor 6", "disease": [ { "disease_id": "DOID:0060836", "name": "isolated microphthalmia 4", "description": "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0060836", "evidence": [ { "id": "0060836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060836" } ], "weight": 0.0 }, { "disease_id": "DOID:0080589", "name": "Klippel-Feil syndrome 1", "description": "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0080589", "evidence": [ { "id": "0080589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080589" } ], "weight": 0.0 }, { "disease_id": "DOID:0081320", "name": "multiple synostoses syndrome 4", "description": "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0081320", "evidence": [ { "id": "0081320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081320" } ], "weight": 0.0 }, { "disease_id": "DOID:0110217", "name": "Leber congenital amaurosis 17", "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0110217", "evidence": [ { "id": "0110217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110217" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "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": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "retinal cell apoptotic process", "id": "GO:1990009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990009", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "metanephric tubule development", "id": "GO:0072170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072170", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P43028", "url": "https://www.uniprot.org/uniprotkb/P43028" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43028-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "P43028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43028#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43028-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Thr178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Thr", "end_pos": 178, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr178", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P43028-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Thr", "end_pos": 211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr211", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P43028-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Thr414", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 414, "start_aa": "Thr", "end_pos": 414, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr414", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P43028-1" }, { "uniprot_canonical_ac": "P97737-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 476, "chemical_mass": 52575.0, "gene_names": "Gdf10;Bmp3b;Gdf10", "protein_name": "Growth/differentiation factor 10", "disease": [], "biological_process": [ { "name": "response to transforming growth factor beta", "id": "GO:0071559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071559", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "response to kainic acid", "id": "GO:1904373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904373", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "ovulation cycle", "id": "GO:0042698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042698", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P97737", "url": "https://www.uniprot.org/uniprotkb/P97737" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97737-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PVYFFNLTSMQDSEMILTAAFHFYSEPPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "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" } ] }, { "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": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P97737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97737#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97737-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Asn152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "P97737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97737#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97737-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YDPFPAGDFEPGAAPNSSADPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 277, "start_aa": "Asn", "end_pos": 277, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn277", "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" } ] }, { "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": 277, "start_aa": "Asn", "end_pos": 277, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn277", "evidence": [ { "id": "P97737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97737#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97737-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Asn467", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYPNMSVETCACR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 467, "start_aa": "Asn", "end_pos": 467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn467", "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" } ] }, { "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": 467, "start_aa": "Asn", "end_pos": 467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn467", "evidence": [ { "id": "P97737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97737#ptm_processing" } ] } ] } ], "record_id": "P97737-1" }, { "uniprot_canonical_ac": "Q07104-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 366, "chemical_mass": 41586.0, "gene_names": "Gdf3;Gdf-3;Gdf3;Vgr-2;Vgr2;ecat9", "protein_name": "Growth/differentiation factor 3", "disease": [ { "disease_id": "DOID:0060838", "name": "isolated microphthalmia 7", "description": "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0060838", "evidence": [ { "id": "0060838", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060838" } ], "weight": 0.0 }, { "disease_id": "DOID:0080591", "name": "Klippel-Feil syndrome 3", "description": "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0080591", "evidence": [ { "id": "0080591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080591" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of epidermal cell differentiation", "id": "GO:0045605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045605", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "formation of anatomical boundary", "id": "GO:0048859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048859", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "regulation of cell fate commitment", "id": "GO:0010453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010453", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "somite rostral/caudal axis specification", "id": "GO:0032525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032525", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q07104", "url": "https://www.uniprot.org/uniprotkb/Q07104" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07104-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "Q07104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07104#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07104-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Asn308", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 308, "start_aa": "Asn", "end_pos": 308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn308", "evidence": [ { "id": "Q07104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07104#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07104-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "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": 65, "start_aa": "Ser", "end_pos": 65, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser65", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q07104", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q07104" } ] } ] } ], "record_id": "Q07104-1" }, { "uniprot_canonical_ac": "Q9Z1W4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 405, "chemical_mass": 44947.0, "gene_names": "Gdf11;BMP-11;Bmp11;Gdf11", "protein_name": "Growth/differentiation factor 11", "disease": [ { "disease_id": "DOID:0070418", "name": "vertebral hypersegmentation and orofacial anomalies", "description": "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0070418", "evidence": [ { "id": "0070418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070418" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "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": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "spinal cord anterior/posterior patterning", "id": "GO:0021512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021512", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1W4-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAPNISR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 92, "start_aa": "Asn", "end_pos": 92, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn92", "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" } ] }, { "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": 92, "start_aa": "Asn", "end_pos": 92, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn92", "evidence": [ { "id": "Q9Z1W4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1W4-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asp120", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Inhibits processing of prodomain.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W4" }, { "database": "PubMed", "id": "15988002", "url": "https://glygen.org/publication/PubMed/15988002" } ] } ] } ], "record_id": "Q9Z1W4-1" }, { "uniprot_canonical_ac": "Q8K1Z0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 35083.0, "gene_names": "Coq9;2310005O14Rik;Coq9", "protein_name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "disease": [ { "disease_id": "DOID:0050730", "name": "coenzyme Q10 deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.", "url": "https://disease-ontology.org/term/DOID:0050730", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ], "weight": 0.0 }, { "disease_id": "DOID:0070242", "name": "primary coenzyme Q10 deficiency 5", "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0070242", "evidence": [ { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "ubiquinone biosynthesis complex", "id": "GO:0110142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110142", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "isoprenoid binding", "id": "GO:0019840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019840", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" }, { "name": "ubiquinone biosynthetic process", "id": "GO:0006744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006744", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K1Z0-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Asn305", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLTGLNQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "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": "Q8K1Z0-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ser81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K1Z0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8K1Z0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1Z0" } ] } ] }, { "uniprot_canonical_ac": "Q8K1Z0-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Thr146", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TQC->NQC).", "chr_id": "8", "chr_pos": "95576826", "evidence": [ { "id": "rs3389000158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000158" } ] } ] } ], "record_id": "Q8K1Z0-1" }, { "uniprot_canonical_ac": "Q8BHN0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 360, "chemical_mass": 41049.0, "gene_names": "Ppm1l;3222401G13;5930404J21Rik;Kiaa4175;PP2Cepsilon;PP2C;Pp2ce;Ppm1l;Ppp2ce;mKIAA4175", "protein_name": "Protein phosphatase 1L", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHN0-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FEVLTDLANK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "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": "Q8BHN0-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Asn252", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RAGGFISFNGSWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "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": "Q8BHN0-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Asn343", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GCPDNITVMVVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 343, "start_aa": "Asn", "end_pos": 343, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn343", "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": "Q8BHN0-1", "start_pos": "130", "end_pos": "130", "site_lbl": "His130", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" }, { "database": "PubMed", "id": "12556533", "url": "https://glygen.org/publication/PubMed/12556533" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN0-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Arg239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Slightly abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" }, { "database": "PubMed", "id": "12556533", "url": "https://glygen.org/publication/PubMed/12556533" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN0-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Arg241", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" }, { "database": "PubMed", "id": "12556533", "url": "https://glygen.org/publication/PubMed/12556533" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN0-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" }, { "database": "PubMed", "id": "12556533", "url": "https://glygen.org/publication/PubMed/12556533" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN0-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Asp302", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes phosphatase activity, prevents MAP3K7/TAK1 phosphorylation in vitro, does not abolish interaction with MAP3K7/TAK1, found in a complex with MAP3K7/TAK1, MAP2K4 or MAP2K6 and enhances the association between MAP3K7/TAK1, MAP2K4 or MAP2K6.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN0", "url": "https://www.uniprot.org/uniprotkb/Q8BHN0" }, { "database": "PubMed", "id": "12556533", "url": "https://glygen.org/publication/PubMed/12556533" } ] } ] } ], "record_id": "Q8BHN0-1" }, { "uniprot_canonical_ac": "Q62245-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1319, "chemical_mass": 150883.0, "gene_names": "Sos1;4430401P03Rik;9630010N06;Sos1", "protein_name": "Son of sevenless homolog 1", "disease": [ { "disease_id": "DOID:0060466", "name": "gingival fibromatosis", "description": "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.", "url": "https://disease-ontology.org/term/DOID:0060466", "evidence": [ { "id": "0060466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060466" } ], "weight": 0.0 }, { "disease_id": "DOID:0060582", "name": "Noonan syndrome 4", "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0060582", "evidence": [ { "id": "0060582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060582" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "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:6420", "name": "pulmonary valve stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:6420", "evidence": [ { "id": "6420", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6420" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "regulation of T cell differentiation in thymus", "id": "GO:0033081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033081", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "lymphocyte homeostasis", "id": "GO:0002260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002260", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "vitellogenesis", "id": "GO:0007296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007296", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "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": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "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": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "regulation of pro-B cell differentiation", "id": "GO:2000973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000973", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "midbrain morphogenesis", "id": "GO:1904693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904693", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "GTPase complex", "id": "GO:1905360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905360", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1078", "end_pos": "1078", "site_lbl": "Ser1078", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q62245", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1082", "end_pos": "1082", "site_lbl": "Ser1082", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" }, { "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": "Q62245", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1120", "end_pos": "1120", "site_lbl": "Ser1120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1147", "end_pos": "1147", "site_lbl": "Ser1147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1164", "end_pos": "1164", "site_lbl": "Ser1164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Ser1196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Ser1215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" } ] } ] }, { "uniprot_canonical_ac": "Q62245-1", "start_pos": "1261", "end_pos": "1261", "site_lbl": "Ser1261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62245", "url": "https://www.uniprot.org/uniprotkb/Q62245" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62245", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62245" } ] } ] } ], "record_id": "Q62245-1" }, { "uniprot_canonical_ac": "P05480-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 535, "chemical_mass": 59891.0, "gene_names": "Src;Src;pp60c-src", "protein_name": "Proto-oncogene tyrosine-protein kinase Src", "disease": [ { "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:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "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 }, { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:5742", "name": "pancreatic acinar cell adenocarcinoma", "description": "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.", "url": "https://disease-ontology.org/term/DOID:5742", "evidence": [ { "id": "5742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5742" } ], "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: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "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 } ], "molecular_function": [ { "name": "connexin binding", "id": "GO:0071253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071253", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of early endosome to late endosome transport", "id": "GO:2000641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000641", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance", "id": "GO:0032205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032205", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of caveolin-mediated endocytosis", "id": "GO:2001286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001286", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "primary ovarian follicle growth", "id": "GO:0001545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001545", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to progesterone stimulus", "id": "GO:0071393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071393", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of glucose metabolic process", "id": "GO:0010907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010907", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium morphogenesis", "id": "GO:2000394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000394", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration", "id": "GO:0010632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010632", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of protein transport", "id": "GO:0051222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051222", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial depolarization", "id": "GO:0051902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051902", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033146", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of dephosphorylation", "id": "GO:0035306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035306", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "toll-like receptor 3 signaling pathway", "id": "GO:0034138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034138", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "branching involved in mammary gland duct morphogenesis", "id": "GO:0060444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060444", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of cell projection assembly", "id": "GO:0060491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060491", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of male germ cell proliferation", "id": "GO:2000256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000256", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of neutrophil activation", "id": "GO:1902564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902564", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "progesterone receptor signaling pathway", "id": "GO:0050847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050847", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of toll-like receptor 3 signaling pathway", "id": "GO:0034139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034139", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "mitochondrion-derived vesicle", "id": "GO:0099073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099073", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "dendritic growth cone", "id": "GO:0044294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044294", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "dendritic filopodium", "id": "GO:1902737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902737", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "postsynaptic specialization, intracellular component", "id": "GO:0099091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099091", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "neuron to neuron synapse", "id": "GO:0098984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098984", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P05480-2", "start_pos": "67", "end_pos": "67", "site_lbl": "Asn67", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43769HG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LFGGFNSSDTVTSPQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 67, "start_aa": "Asn", "end_pos": 67, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn67", "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": "P05480-2", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" }, { "database": "PubMed", "id": "2474754", "url": "https://glygen.org/publication/PubMed/2474754" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" }, { "database": "PubMed", "id": "15546918", "url": "https://glygen.org/publication/PubMed/15546918" }, { "database": "PubMed", "id": "2474754", "url": "https://glygen.org/publication/PubMed/2474754" }, { "database": "PubMed", "id": "29472430", "url": "https://glygen.org/publication/PubMed/29472430" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "186", "end_pos": "186", "site_lbl": "Tyr186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "418", "end_pos": "418", "site_lbl": "Tyr418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05480-2", "kinase_gene_name": "Src", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" }, { "database": "PubMed", "id": "22801373", "url": "https://glygen.org/publication/PubMed/22801373" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "IntAct", "id": "P05480", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05480*" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" }, { "database": "PubMed", "id": "21199370", "url": "https://glygen.org/publication/PubMed/21199370" }, { "database": "PubMed", "id": "16828070", "url": "https://glygen.org/publication/PubMed/16828070" }, { "database": "PubMed", "id": "17517963", "url": "https://glygen.org/publication/PubMed/17517963" }, { "database": "PubMed", "id": "21901128", "url": "https://glygen.org/publication/PubMed/21901128" }, { "database": "PubMed", "id": "25097454", "url": "https://glygen.org/publication/PubMed/25097454" }, { "database": "PubMed", "id": "26551526", "url": "https://glygen.org/publication/PubMed/26551526" }, { "database": "PubMed", "id": "27572515", "url": "https://glygen.org/publication/PubMed/27572515" }, { "database": "PubMed", "id": "29775473", "url": "https://glygen.org/publication/PubMed/29775473" }, { "database": "PubMed", "id": "31073117", "url": "https://glygen.org/publication/PubMed/31073117" }, { "database": "PubMed", "id": "32139394", "url": "https://glygen.org/publication/PubMed/32139394" }, { "database": "PubMed", "id": "33037073", "url": "https://glygen.org/publication/PubMed/33037073" }, { "database": "PubMed", "id": "25731159", "url": "https://glygen.org/publication/PubMed/25731159" }, { "database": "PubMed", "id": "22801373", "url": "https://glygen.org/publication/PubMed/22801373" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "529", "end_pos": "529", "site_lbl": "Tyr529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" }, { "database": "PubMed", "id": "12115541", "url": "https://glygen.org/publication/PubMed/12115541" }, { "database": "PubMed", "id": "26551526", "url": "https://glygen.org/publication/PubMed/26551526" }, { "database": "PubMed", "id": "25731159", "url": "https://glygen.org/publication/PubMed/25731159" }, { "database": "PubMed", "id": "22801373", "url": "https://glygen.org/publication/PubMed/22801373" } ] } ] }, { "uniprot_canonical_ac": "P05480-2", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P05480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05480" } ] } ] } ], "record_id": "P05480-2" }, { "uniprot_canonical_ac": "Q9EPK5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 43620.0, "gene_names": "Wwtr1;2310058J06Rik;2610021I22Rik;Taz;Wwtr1", "protein_name": "WW domain-containing transcription regulator protein 1", "disease": [ { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "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:12712", "name": "nephronophthisis", "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).", "url": "https://disease-ontology.org/term/DOID:12712", "evidence": [ { "id": "12712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12712" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of metanephric nephron tubule epithelial cell differentiation", "id": "GO:0072307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072307", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "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": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "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": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "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": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "heart process", "id": "GO:0003015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003015", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "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": 171, "start_aa": "Ser", "end_pos": 171, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser171", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EPK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Thr173", "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": 173, "start_aa": "Thr", "end_pos": 173, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr173", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EPK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "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": 174, "start_aa": "Ser", "end_pos": 174, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser174", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EPK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "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": 176, "start_aa": "Ser", "end_pos": 176, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser176", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9EPK5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EPK5" }, { "id": "Q9EPK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK5-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" }, { "database": "iPTMnet", "id": "Q9EPK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of YWHAZ binding with increased nuclear localization. Partial recovery of nuclear accumulation; when associated with deletion of 392-L--L-395.", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK5", "url": "https://www.uniprot.org/uniprotkb/Q9EPK5" }, { "database": "PubMed", "id": "11118213", "url": "https://glygen.org/publication/PubMed/11118213" } ] } ] } ], "record_id": "Q9EPK5-1" }, { "uniprot_canonical_ac": "Q6NXH3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 473, "chemical_mass": 53423.0, "gene_names": "Gpbp1;1700034P14Rik;D230035M11Rik;Gpbp1;Gpbp;mGPBP", "protein_name": "Vasculin", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "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": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "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": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NXH3-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asn118", "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": "SQGLHENSIPDNETGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "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": "Q6NXH3-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Asn79", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "THGRNGTENINHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "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": "Q6NXH3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NXH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXH3" } ] } ] }, { "uniprot_canonical_ac": "Q6NXH3-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NXH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXH3" } ] } ] }, { "uniprot_canonical_ac": "Q6NXH3-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ] } ] }, { "uniprot_canonical_ac": "Q6NXH3-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" } ] } ] }, { "uniprot_canonical_ac": "Q6NXH3-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NXH3", "url": "https://www.uniprot.org/uniprotkb/Q6NXH3" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6NXH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXH3" } ] } ] } ], "record_id": "Q6NXH3-1" }, { "uniprot_canonical_ac": "Q8C156-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 731, "chemical_mass": 82303.0, "gene_names": "Ncaph;A730011O11Rik;Brrn1;Brrn;CAP-H;Caph;HCAP-H;Ncaph;mCAP-H", "protein_name": "Condensin complex subunit 2", "disease": [ { "disease_id": "DOID:0051034", "name": "primary autosomal recessive microcephaly 23", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.", "url": "https://disease-ontology.org/term/DOID:0051034", "evidence": [ { "id": "0051034", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051034" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of chromosome separation", "id": "GO:1905820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905820", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "positive regulation of chromosome segregation", "id": "GO:0051984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051984", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "meiotic chromosome condensation", "id": "GO:0010032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010032", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "meiotic chromosome segregation", "id": "GO:0045132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045132", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "immunoglobulin heavy chain V-D-J recombination", "id": "GO:0071707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071707", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "female meiosis chromosome separation", "id": "GO:0051309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051309", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "positive regulation of chromosome condensation", "id": "GO:1905821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905821", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" } ], "cellular_component": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" }, { "name": "condensin complex", "id": "GO:0000796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000796", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "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": 93, "start_aa": "Thr", "end_pos": 93, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr93", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q8C156", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8C156" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q8C156", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ser425", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Thr43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Thr46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Thr587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Ser75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] }, { "uniprot_canonical_ac": "Q8C156-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C156", "url": "https://www.uniprot.org/uniprotkb/Q8C156" } ] } ] } ], "record_id": "Q8C156-1" }, { "uniprot_canonical_ac": "P11087-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1453, "chemical_mass": 138032.0, "gene_names": "Col1a1;Col1a-1;Col1a1;Cola-1;Cola1;Mov-13;Mov13", "protein_name": "Collagen alpha-1(I) chain", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080727", "evidence": [ { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ], "weight": 0.0 }, { "disease_id": "DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110334", "evidence": [ { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ], "weight": 0.0 }, { "disease_id": "DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110339", "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ], "weight": 0.0 }, { "disease_id": "DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110340", "evidence": [ { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110341", "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "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:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "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:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "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: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). 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. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3507", "name": "dermatofibrosarcoma protuberans", "description": "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.", "url": "https://disease-ontology.org/term/DOID:3507", "evidence": [ { "id": "3507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3507" } ], "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:4154", "name": "dentinogenesis imperfecta", "description": "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:4154", "evidence": [ { "id": "4154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4154" } ], "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:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.", "url": "https://disease-ontology.org/term/DOID:4257", "evidence": [ { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen type I trimer", "id": "GO:0005584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005584", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to vitamin E", "id": "GO:0071306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071306", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to fluoride", "id": "GO:1902618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902618", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "intramembranous ossification", "id": "GO:0001957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001957", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen-activated tyrosine kinase receptor signaling pathway", "id": "GO:0038063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038063", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to acetaldehyde", "id": "GO:1905641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905641", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P11087-1", "start_pos": "1097", "end_pos": "1097", "site_lbl": "Lys1097", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 1097, "start_aa": "Lys", "end_pos": 1097, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys1097", "evidence": [ { "id": "P11087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11087#ptm_processing" }, { "id": "27119146", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27119146" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "1354", "end_pos": "1354", "site_lbl": "Asn1354", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1354, "start_aa": "Asn", "end_pos": 1354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1354", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2220", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2220" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LMSTEASQNITYHCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1354, "start_aa": "Asn", "end_pos": 1354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1354", "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" } ] }, { "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": 1354, "start_aa": "Asn", "end_pos": 1354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1354", "evidence": [ { "id": "P11087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11087#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Lys254", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 254, "start_aa": "Lys", "end_pos": 254, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys254", "evidence": [ { "id": "P11087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11087#ptm_processing" }, { "id": "27119146", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27119146" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Thr326", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 326, "start_aa": "Thr", "end_pos": 326, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr326", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Thr329", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 329, "start_aa": "Thr", "end_pos": 329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr329", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Asn56", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "P11087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11087#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Thr782", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 782, "start_aa": "Thr", "end_pos": 782, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr782", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "937", "end_pos": "937", "site_lbl": "Thr937", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 937, "start_aa": "Thr", "end_pos": 937, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr937", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ser260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ] } ] }, { "uniprot_canonical_ac": "P11087-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Ser776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ] } ] } ], "record_id": "P11087-1" }, { "uniprot_canonical_ac": "Q9R194-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 592, "chemical_mass": 66850.0, "gene_names": "Cry2;Cry2;D130054K12Rik;Kiaa0658", "protein_name": "Cryptochrome-2", "disease": [], "biological_process": [ { "name": "negative regulation of glucocorticoid secretion", "id": "GO:2000850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000850", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "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": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "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": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "negative regulation of circadian rhythm", "id": "GO:0042754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042754", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "negative regulation of nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:2000323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000323", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "photoreceptor activity", "id": "GO:0009881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009881", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "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": 167, "start_aa": "Thr", "end_pos": 167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr167", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9R194", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9R194" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "iPTMnet", "id": "Q9R194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" }, { "database": "PubMed", "id": "11875063", "url": "https://glygen.org/publication/PubMed/11875063" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced in vitro MAPK-catalyzed phosphorylation. No effect on inhibition of CLOCK-BMAL1-mediated transcriptional activity. Very little in vitro MAPK-catalyzed phosphorylation; when associated with A-557.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Reduced inhibition of CLOCK-BMAL1-mediated transcriptional activity. No effect on nuclear localization nor on protein stability.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ser553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "iPTMnet", "id": "Q9R194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R194" }, { "database": "PubMed", "id": "15980066", "url": "https://glygen.org/publication/PubMed/15980066" }, { "database": "PubMed", "id": "16687286", "url": "https://glygen.org/publication/PubMed/16687286" }, { "database": "PubMed", "id": "20123978", "url": "https://glygen.org/publication/PubMed/20123978" }, { "database": "PubMed", "id": "11875063", "url": "https://glygen.org/publication/PubMed/11875063" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Shorter circadian rhythm; when associated with A-557.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "20123978", "url": "https://glygen.org/publication/PubMed/20123978" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "iPTMnet", "id": "Q9R194", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" }, { "database": "PubMed", "id": "15980066", "url": "https://glygen.org/publication/PubMed/15980066" }, { "database": "PubMed", "id": "16687286", "url": "https://glygen.org/publication/PubMed/16687286" }, { "database": "PubMed", "id": "25288642", "url": "https://glygen.org/publication/PubMed/25288642" }, { "database": "PubMed", "id": "20123978", "url": "https://glygen.org/publication/PubMed/20123978" }, { "database": "PubMed", "id": "11875063", "url": "https://glygen.org/publication/PubMed/11875063" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced in vitro MAPK-catalyzed phosphorylation. No effect on inhibition of CLOCK-BMAL1-mediated transcriptional activity. Very little in vitro MAPK-catalyzed phosphorylation; when associated with A-265. Shorter circadian rhythm; when associated with A-553.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" }, { "database": "PubMed", "id": "20123978", "url": "https://glygen.org/publication/PubMed/20123978" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Reduced inhibition of CLOCK-BMAL1-mediated transcriptional activity. No effect on nuclear localization nor on protein stability.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" }, { "database": "PubMed", "id": "20123978", "url": "https://glygen.org/publication/PubMed/20123978" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Trp310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Decreases FBXL3 binding. Strongly decreases CRY2 degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Asp339", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "R", "comment": "Strongly reduces PER1 binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Gly351", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Loss of ability to inhibit CLOCK-BMAL1-mediated transcriptional activity. No loss of ability to inhibit NR1I2 transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "28751364", "url": "https://glygen.org/publication/PubMed/28751364" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Gly354", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Loss of ability to inhibit CLOCK-BMAL1-mediated transcriptional activity. No loss of ability to inhibit NR1I2 transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "28751364", "url": "https://glygen.org/publication/PubMed/28751364" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Arg376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs protein folding. Abolishes binding of BMAL1, PER1 and FBXL3. Strongly reduces SKP1 binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Reduced interaction with NR1I2 and NR1I3. Significant decrease in interaction with NR1I2 and NR1I3; when associated with M-396 and K-397.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "28751364", "url": "https://glygen.org/publication/PubMed/28751364" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Val396", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Reduced interaction with NR1I2 and NR1I3. Significant decrease in interaction with NR1I2 and NR1I3; when associated with E-394 and K-397.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "28751364", "url": "https://glygen.org/publication/PubMed/28751364" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Arg397", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Reduced interaction with NR1I2 and NR1I3. Significant decrease in interaction with NR1I2 and NR1I3; when associated with E-394 and M-396.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "28751364", "url": "https://glygen.org/publication/PubMed/28751364" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Phe428", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Abolishes binding of FBXL3 and SKP1. Strongly decreases CRY2 degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Ile499", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Abolishes binding of FBXL3 and SKP1. Strongly decreases CRY2 degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Arg501", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Inhibits interaction with PER2. Does not suppress its nuclear localization. Inhibits its repression activity on CLOCK|NPAS2-BMAL1-driven transcription.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "20840750", "url": "https://glygen.org/publication/PubMed/20840750" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Lys503", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits interaction with PER2. Does not suppress its nuclear localization. Inhibits its repression activity on CLOCK|NPAS2-BMAL1-driven transcription.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "20840750", "url": "https://glygen.org/publication/PubMed/20840750" } ] } ] }, { "uniprot_canonical_ac": "Q9R194-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Leu517", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreases FBXL3 binding. Strongly decreases CRY2 degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R194", "url": "https://www.uniprot.org/uniprotkb/Q9R194" }, { "database": "PubMed", "id": "23503662", "url": "https://glygen.org/publication/PubMed/23503662" } ] } ] } ], "record_id": "Q9R194-1" }, { "uniprot_canonical_ac": "P01193-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 235, "chemical_mass": 26707.0, "gene_names": "Pomc;ACTH;BE;Beta-LPH;Clip;Gamma-LPH;Npp;Pomc-1;Pomc1;Pomc;alpha-MSH;alphaMSH;beta-MSH;gamma-MSH", "protein_name": "Pro-opiomelanocortin", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:10915", "name": "Wernicke-Korsakoff syndrome", "description": "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.", "url": "https://disease-ontology.org/term/DOID:10915", "evidence": [ { "id": "10915", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10915" } ], "weight": 0.0 }, { "disease_id": "DOID:11613", "name": "hyperandrogenism", "description": "", "url": "https://disease-ontology.org/term/DOID:11613", "evidence": [ { "id": "11613", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11613" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903999", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "regulation of glycogen catabolic process", "id": "GO:0005981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005981", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "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": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "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": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "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": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to antigenic stimulus", "id": "GO:0002862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "regulation of feeding behavior", "id": "GO:0060259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060259", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "positive regulation of melanin biosynthetic process", "id": "GO:0048023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048023", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "positive regulation of neutrophil mediated killing of fungus", "id": "GO:0070965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070965", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "modulation of process of another organism", "id": "GO:0035821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035821", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "cellular pigmentation", "id": "GO:0033059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033059", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "regulation of corticosterone secretion", "id": "GO:2000852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000852", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106071", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "response to melanocyte-stimulating hormone", "id": "GO:1990680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990680", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "positive regulation of oxytocin production", "id": "GO:0140668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140668", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "positive regulation of glucocorticoid biosynthetic process", "id": "GO:0031948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031948", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "type 3 melanocortin receptor binding", "id": "GO:0031781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031781", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "type 4 melanocortin receptor binding", "id": "GO:0031782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031782", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "type 1 melanocortin receptor binding", "id": "GO:0070996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070996", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "type 5 melanocortin receptor binding", "id": "GO:0031783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031783", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01193-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Asn152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "112", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/112" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "112", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/112" } ] }, { "glytoucan_ac": "G93910IH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYPNVAENESAEAFPLEFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "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" } ] }, { "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": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "P01193", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01193#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P01193-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSSAGSAAQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "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" } ] }, { "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": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "evidence": [ { "id": "P01193", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01193#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P01193-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01193", "url": "https://www.uniprot.org/uniprotkb/P01193" } ] } ] } ], "record_id": "P01193-1" }, { "uniprot_canonical_ac": "Q5SU73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 570, "chemical_mass": 61917.0, "gene_names": "Coil;CLN80", "protein_name": "Coilin", "disease": [], "molecular_function": [ { "name": "disulfide oxidoreductase activity", "id": "GO:0015036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015036", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "U2 snRNA binding", "id": "GO:0030620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030620", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "U1 snRNA binding", "id": "GO:0030619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030619", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" }, { "name": "female germ cell nucleus", "id": "GO:0001674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001674", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Asn215", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EGASQNCSFPRASPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 215, "start_aa": "Asn", "end_pos": 215, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn215", "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": "Q5SU73-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SU73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SU73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SU73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SU73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SU73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ] } ] }, { "uniprot_canonical_ac": "Q5SU73-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ser563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SU73", "url": "https://www.uniprot.org/uniprotkb/Q5SU73" } ] } ] } ], "record_id": "Q5SU73-1" }, { "uniprot_canonical_ac": "Q9Z0S5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 24280.0, "gene_names": "Cldn15;2210009B08Rik;Cldn15", "protein_name": "Claudin-15", "disease": [], "biological_process": [ { "name": "regulation of intestinal lipid absorption", "id": "GO:1904729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904729", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "id": "GO:0016338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016338", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "paracellular transport", "id": "GO:0160184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160184", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "regulation of intestinal D-glucose absorption", "id": "GO:1903985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903985", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" }, { "name": "paracellular tight junction channel activity", "id": "GO:0160187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160187", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0S5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0S5" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0S5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0S5" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Cys102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes palmitoylation; when associated with 183-A--A-185.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "24744376", "url": "https://glygen.org/publication/PubMed/24744376" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0S5-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Met68", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Abolishes formation of tight-junction strand-like structures.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "24744376", "url": "https://glygen.org/publication/PubMed/24744376" } ] }, { "sequence_org": "M", "sequence_mut": "E", "comment": "Abolishes formation of tight-junction strand-like structures.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "24744376", "url": "https://glygen.org/publication/PubMed/24744376" } ] }, { "sequence_org": "M", "sequence_mut": "I", "comment": "No effect on formation of tight-junction strand-like structures.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "24744376", "url": "https://glygen.org/publication/PubMed/24744376" } ] }, { "sequence_org": "M", "sequence_mut": "L", "comment": "No effect on formation of tight-junction strand-like structures.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S5" }, { "database": "PubMed", "id": "24744376", "url": "https://glygen.org/publication/PubMed/24744376" } ] } ] } ], "record_id": "Q9Z0S5-1" }, { "uniprot_canonical_ac": "P35235-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 593, "chemical_mass": 68035.0, "gene_names": "Ptpn11;2700084A17Rik;PTP1D;PTP2C;Ptpn11;SAP-2;SH-PTP2;SH-PTP3;SHP-2;Shp2;Syp", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.", "url": "https://disease-ontology.org/term/DOID:0050458", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ], "weight": 0.0 }, { "disease_id": "DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0060578", "name": "Noonan syndrome 1", "description": "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0060578", "evidence": [ { "id": "0060578", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060578" } ], "weight": 0.0 }, { "disease_id": "DOID:0080548", "name": "Noonan syndrome with multiple lentigines 1", "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0080548", "evidence": [ { "id": "0080548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080548" } ], "weight": 0.0 }, { "disease_id": "DOID:0111512", "name": "metachondromatosis", "description": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.", "url": "https://disease-ontology.org/term/DOID:0111512", "evidence": [ { "id": "0111512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111512" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14291", "name": "Noonan syndrome with multiple lentigines", "description": "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.", "url": "https://disease-ontology.org/term/DOID:14291", "evidence": [ { "id": "14291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14291" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:2602", "name": "chondroma", "description": "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.", "url": "https://disease-ontology.org/term/DOID:2602", "evidence": [ { "id": "2602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2602" } ], "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: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:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of cell adhesion mediated by integrin", "id": "GO:0033628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033628", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of growth hormone secretion", "id": "GO:0060125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060125", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "ERBB signaling pathway", "id": "GO:0038127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038127", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of cortisol secretion", "id": "GO:0051463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051463", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "intestinal epithelial cell migration", "id": "GO:0061582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061582", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cerebellar cortex formation", "id": "GO:0021697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021697", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of neutrophil activation", "id": "GO:1902564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902564", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of hormone secretion", "id": "GO:0046887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046887", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "microvillus organization", "id": "GO:0032528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032528", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "peptide hormone receptor binding", "id": "GO:0051428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051428", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "D1 dopamine receptor binding", "id": "GO:0031748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031748", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "insulin receptor substrate binding", "id": "GO:0043560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043560", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine phosphatase activity", "id": "GO:0004726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004726", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35235-2", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPLNTTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 217, "start_aa": "Asn", "end_pos": 217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn217", "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": "P35235-2", "start_pos": "566", "end_pos": "566", "site_lbl": "Thr566", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 566, "start_aa": "Thr", "end_pos": 566, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr566", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P35235-2", "start_pos": "304", "end_pos": "304", "site_lbl": "Tyr304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "IntAct", "id": "P35235", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35235*" }, { "database": "iPTMnet", "id": "P35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35235" }, { "database": "PubMed", "id": "7522233", "url": "https://glygen.org/publication/PubMed/7522233" } ] } ] }, { "uniprot_canonical_ac": "P35235-2", "start_pos": "542", "end_pos": "542", "site_lbl": "Tyr542", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" }, { "database": "IntAct", "id": "P35235", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35235*" }, { "database": "iPTMnet", "id": "P35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35235" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" }, { "database": "PubMed", "id": "11684012", "url": "https://glygen.org/publication/PubMed/11684012" }, { "database": "PubMed", "id": "12403768", "url": "https://glygen.org/publication/PubMed/12403768" }, { "database": "PubMed", "id": "7522233", "url": "https://glygen.org/publication/PubMed/7522233" }, { "database": "PubMed", "id": "12531430", "url": "https://glygen.org/publication/PubMed/12531430" }, { "database": "PubMed", "id": "27417137", "url": "https://glygen.org/publication/PubMed/27417137" }, { "database": "PubMed", "id": "28352079", "url": "https://glygen.org/publication/PubMed/28352079" }, { "database": "PubMed", "id": "33033382", "url": "https://glygen.org/publication/PubMed/33033382" }, { "database": "PubMed", "id": "16885344", "url": "https://glygen.org/publication/PubMed/16885344" } ] } ] }, { "uniprot_canonical_ac": "P35235-2", "start_pos": "580", "end_pos": "580", "site_lbl": "Tyr580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" }, { "database": "IntAct", "id": "P35235", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35235*" }, { "database": "iPTMnet", "id": "P35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35235" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" }, { "database": "PubMed", "id": "12531430", "url": "https://glygen.org/publication/PubMed/12531430" }, { "database": "PubMed", "id": "8959326", "url": "https://glygen.org/publication/PubMed/8959326" }, { "database": "PubMed", "id": "8622870", "url": "https://glygen.org/publication/PubMed/8622870" }, { "database": "PubMed", "id": "16885344", "url": "https://glygen.org/publication/PubMed/16885344" } ] } ] }, { "uniprot_canonical_ac": "P35235-2", "start_pos": "62", "end_pos": "62", "site_lbl": "Tyr62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35235" } ] } ] }, { "uniprot_canonical_ac": "P35235-2", "start_pos": "66", "end_pos": "66", "site_lbl": "Tyr66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P35235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35235" } ] } ] } ], "record_id": "P35235-2" }, { "uniprot_canonical_ac": "Q62036-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1060, "chemical_mass": 120313.0, "gene_names": "Cep131;AZ1;Az1;Azi1;Azi;Cep131", "protein_name": "Centrosomal protein of 131 kDa", "disease": [ { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "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": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "manchette assembly", "id": "GO:1905198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905198", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "intramanchette transport", "id": "GO:1990953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990953", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62036-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Ser513", "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": 513, "start_aa": "Ser", "end_pos": 513, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser513", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q62036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Thr516", "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": 516, "start_aa": "Thr", "end_pos": 516, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr516", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q62036", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Ser146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q62036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62036" }, { "database": "PubMed", "id": "31358734", "url": "https://glygen.org/publication/PubMed/31358734" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Thr473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" }, { "database": "iPTMnet", "id": "Q62036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62036" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Ser481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62036", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62036", "url": "https://www.uniprot.org/uniprotkb/Q62036" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "11", "chr_pos": "119966462", "evidence": [ { "id": "rs3389221717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389221717" } ] } ] }, { "uniprot_canonical_ac": "Q62036-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Gly383", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "11", "chr_pos": "119963664", "evidence": [ { "id": "rs251303789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251303789" } ] } ] } ], "record_id": "Q62036-1" }, { "uniprot_canonical_ac": "Q61387-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 111, "chemical_mass": 12399.0, "gene_names": "Cox7a2l;COX7AR;COX7RP;Cox7a2l;Cox7rp;EB1;SIG-81;SIG81;Scaf1;Silg81", "protein_name": "Cytochrome c oxidase subunit 7A2-like, mitochondrial", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" }, { "name": "mitochondrial respirasome assembly", "id": "GO:0097250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097250", "evidence": [ { "database": "UniProtKB", "id": "Q61387", "url": "https://www.uniprot.org/uniprotkb/Q61387" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61387-1" }, { "uniprot_canonical_ac": "O35218-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 782, "chemical_mass": 88383.0, "gene_names": "Cpsf2;100kDa;2610024B04Rik;Cpsf100;Cpsf2;Cpsf;MCPSF;Mcpsf;mKIAA1367", "protein_name": "Cleavage and polyadenylation specificity factor subunit 2", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA 3'-end processing by stem-loop binding and cleavage", "id": "GO:0006398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006398", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" }, { "name": "mRNA 3'-end processing", "id": "GO:0031124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031124", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35218-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" }, { "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": "O35218", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35218" } ] } ] }, { "uniprot_canonical_ac": "O35218-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" }, { "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": "O35218", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35218" } ] } ] }, { "uniprot_canonical_ac": "O35218-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "O35218", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35218" } ] } ] }, { "uniprot_canonical_ac": "O35218-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Ser660", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35218", "url": "https://www.uniprot.org/uniprotkb/O35218" } ] } ] } ], "record_id": "O35218-1" }, { "uniprot_canonical_ac": "Q8BH50-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 26446.0, "gene_names": "Ark2n;8030462N17Rik;Akd2;Ark2n", "protein_name": "Protein ARK2N", "disease": [], "biological_process": [ { "name": "release from viral latency", "id": "GO:0019046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019046", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "negative regulation of viral life cycle", "id": "GO:1903901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903901", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BH50-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" } ] } ] }, { "uniprot_canonical_ac": "Q8BH50-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BH50", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH50" } ] } ] }, { "uniprot_canonical_ac": "Q8BH50-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BH50", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH50" } ] } ] }, { "uniprot_canonical_ac": "Q8BH50-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BH50", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH50" } ] } ] }, { "uniprot_canonical_ac": "Q8BH50-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH50", "url": "https://www.uniprot.org/uniprotkb/Q8BH50" }, { "database": "iPTMnet", "id": "Q8BH50", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH50" }, { "database": "PubMed", "id": "35882232", "url": "https://glygen.org/publication/PubMed/35882232" } ] } ] } ], "record_id": "Q8BH50-1" }, { "uniprot_canonical_ac": "Q8BH52-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 521, "chemical_mass": 57469.0, "gene_names": "Creb3l2;BBF2H7;Bbf2h7;C530025K05Rik;Creb3l2;SCIRR69", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 2", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "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": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "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": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "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": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "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": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035497", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Thr205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 205, "start_aa": "Thr", "end_pos": 205, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr205", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Asn347", "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": "VEVLENTNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "Q8BH52-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ASSGLEALPEVDLPHFLISNETSLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 481, "start_aa": "Asn", "end_pos": 481, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn481", "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" } ] }, { "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": 481, "start_aa": "Asn", "end_pos": 481, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn481", "evidence": [ { "id": "Q8BH52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BH52#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Asn505", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEGNETLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 505, "start_aa": "Asn", "end_pos": 505, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "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" } ] }, { "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": 505, "start_aa": "Asn", "end_pos": 505, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "evidence": [ { "id": "Q8BH52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BH52#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Asn518", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 518, "start_aa": "Asn", "end_pos": 518, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn518", "evidence": [ { "id": "Q8BH52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BH52#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Thr483", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->NEM).", "chr_id": "6", "chr_pos": "37311340", "evidence": [ { "id": "rs3544135478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544135478" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Arg427", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of S1P cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" }, { "database": "PubMed", "id": "17178827", "url": "https://glygen.org/publication/PubMed/17178827" } ] }, { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of S1P cleavage; when associated with V-430.", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" }, { "database": "PubMed", "id": "17178827", "url": "https://glygen.org/publication/PubMed/17178827" } ] } ] }, { "uniprot_canonical_ac": "Q8BH52-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Leu430", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Loss of S1P cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" }, { "database": "PubMed", "id": "17178827", "url": "https://glygen.org/publication/PubMed/17178827" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Loss of S1P cleavage; when associated with A-427.", "evidence": [ { "database": "UniProtKB", "id": "Q8BH52", "url": "https://www.uniprot.org/uniprotkb/Q8BH52" }, { "database": "PubMed", "id": "17178827", "url": "https://glygen.org/publication/PubMed/17178827" } ] } ] } ], "record_id": "Q8BH52-1" }, { "uniprot_canonical_ac": "Q8BMS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 40957.0, "gene_names": "Coq3;4732433J24;Coq3", "protein_name": "Ubiquinone biosynthesis O-methyltransferase, mitochondrial", "disease": [], "cellular_component": [ { "name": "extrinsic component of mitochondrial inner membrane", "id": "GO:0031314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031314", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "ubiquinone biosynthesis complex", "id": "GO:0110142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110142", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "O-methyltransferase activity", "id": "GO:0008171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008171", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "polyprenyldihydroxybenzoate methyltransferase activity", "id": "GO:0010420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010420", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "3-demethylubiquinol 3-O-methyltransferase activity", "id": "GO:0061542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061542", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "3-demethylubiquinone 3-O-methyltransferase activity", "id": "GO:0120537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120537", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" } ], "biological_process": [ { "name": "ubiquinone biosynthetic process", "id": "GO:0006744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006744", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8BMS4", "url": "https://www.uniprot.org/uniprotkb/Q8BMS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BMS4-1" }, { "uniprot_canonical_ac": "Q8CIT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 187, "chemical_mass": 20778.0, "gene_names": "Crh;CRF;Crh;Gm1347", "protein_name": "Corticotropin-releasing hormone", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:594", "name": "panic disorder", "description": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.", "url": "https://disease-ontology.org/term/DOID:594", "evidence": [ { "id": "594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:594" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903999", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "modulation of inhibitory postsynaptic potential", "id": "GO:0098828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098828", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "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": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "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": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of norepinephrine secretion", "id": "GO:0010700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010700", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of epinephrine secretion", "id": "GO:0032811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032811", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "regulation of serotonin secretion", "id": "GO:0014062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014062", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "glucocorticoid biosynthetic process", "id": "GO:0006704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006704", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of corticotropin secretion", "id": "GO:0051461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051461", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of glucagon secretion", "id": "GO:0070093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070093", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "hormone-mediated apoptotic signaling pathway", "id": "GO:0008628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008628", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "diterpenoid metabolic process", "id": "GO:0016101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016101", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "negative regulation of luteinizing hormone secretion", "id": "GO:0033685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033685", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to ether", "id": "GO:0045472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045472", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "monoatomic ion homeostasis", "id": "GO:0050801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050801", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of cortisol secretion", "id": "GO:0051464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051464", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of digestive system process", "id": "GO:0060456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060456", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of corticosterone secretion", "id": "GO:2000854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000854", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "cellular response to cocaine", "id": "GO:0071314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071314", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid secretion, neurotransmission", "id": "GO:0061534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061534", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "varicosity", "id": "GO:0043196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043196", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "neuronal dense core vesicle lumen", "id": "GO:0099013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099013", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "corticotropin-releasing hormone activity", "id": "GO:0017045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017045", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 1 binding", "id": "GO:0051430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051430", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 2 binding", "id": "GO:0051431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051431", "evidence": [ { "database": "UniProtKB", "id": "Q8CIT0", "url": "https://www.uniprot.org/uniprotkb/Q8CIT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CIT0-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSPNSTPLTAGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "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" } ] } ] } ], "record_id": "Q8CIT0-1" }, { "uniprot_canonical_ac": "P29319-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 983, "chemical_mass": 109955.0, "gene_names": "Epha3;Etk1;Mek4;Tyro4", "protein_name": "Ephrin type-A receptor 3", "disease": [ { "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 } ], "biological_process": [ { "name": "regulation of epithelial to mesenchymal transition", "id": "GO:0010717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010717", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "negative regulation of endocytosis", "id": "GO:0045806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045806", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "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": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "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": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "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": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "fasciculation of sensory neuron axon", "id": "GO:0097155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097155", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "fasciculation of motor neuron axon", "id": "GO:0097156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097156", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "transmembrane-ephrin receptor activity", "id": "GO:0005005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005005", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "ephrin receptor activity", "id": "GO:0005003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005003", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" }, { "name": "GPI-linked ephrin receptor activity", "id": "GO:0005004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005004", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P29319-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Asn231", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSCVNNSKEEDPPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 231, "start_aa": "Asn", "end_pos": 231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn231", "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" } ] }, { "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": 231, "start_aa": "Asn", "end_pos": 231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn231", "evidence": [ { "id": "P29319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29319#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Asn336", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "P29319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29319#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Asn390", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 390, "start_aa": "Asn", "end_pos": 390, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn390", "evidence": [ { "id": "P29319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29319#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Asn403", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 403, "start_aa": "Asn", "end_pos": 403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn403", "evidence": [ { "id": "P29319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29319#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Asn492", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GTNVTISSLKPDTTYVFQIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 492, "start_aa": "Asn", "end_pos": 492, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn492", "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" } ] }, { "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": 492, "start_aa": "Asn", "end_pos": 492, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn492", "evidence": [ { "id": "P29319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29319#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Tyr596", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Tyr602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Tyr701", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Tyr779", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" } ] } ] }, { "uniprot_canonical_ac": "P29319-1", "start_pos": "937", "end_pos": "937", "site_lbl": "Tyr937", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29319", "url": "https://www.uniprot.org/uniprotkb/P29319" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P29319", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P29319" } ] } ] } ], "record_id": "P29319-1" }, { "uniprot_canonical_ac": "Q8BHK9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1240, "chemical_mass": 138854.0, "gene_names": "Ercc6l;D330021P09Rik;Ercc6l", "protein_name": "DNA excision repair protein ERCC-6-like", "disease": [ { "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" }, { "name": "DNA translocase activity", "id": "GO:0015616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015616", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" } ], "cellular_component": [ { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1001", "end_pos": "1001", "site_lbl": "Ser1001", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BHK9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1021", "end_pos": "1021", "site_lbl": "Ser1021", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" }, { "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": "Q8BHK9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1057", "end_pos": "1057", "site_lbl": "Thr1057", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1092", "end_pos": "1092", "site_lbl": "Ser1092", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1112", "end_pos": "1112", "site_lbl": "Ser1112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BHK9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Ser1172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "773", "end_pos": "773", "site_lbl": "Ser773", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "821", "end_pos": "821", "site_lbl": "Ser821", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Ser966", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8BHK9-1", "start_pos": "998", "end_pos": "998", "site_lbl": "Ser998", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHK9", "url": "https://www.uniprot.org/uniprotkb/Q8BHK9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BHK9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHK9" } ] } ] } ], "record_id": "Q8BHK9-1" }, { "uniprot_canonical_ac": "Q99JZ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 461, "chemical_mass": 50075.0, "gene_names": "Errfi1;1300002F13Rik;Errfi1;Mig-6;Mig6;RALT", "protein_name": "ERBB receptor feedback inhibitor 1", "disease": [ { "disease_id": "DOID:0050925", "name": "small intestine carcinoid neuroendocrine tumor", "description": "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.", "url": "https://disease-ontology.org/term/DOID:0050925", "evidence": [ { "id": "0050925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050925" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "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": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "regulation of signaling receptor activity", "id": "GO:0010469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010469", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "stress-activated protein kinase signaling cascade", "id": "GO:0031098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031098", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of protein autophosphorylation", "id": "GO:0031953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031953", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "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": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cellular hyperosmotic response", "id": "GO:0071474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071474", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity by regulation of protein phosphorylation", "id": "GO:0044387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044387", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "regulation of type B pancreatic cell proliferation", "id": "GO:0061469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061469", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "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": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050732", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor-activated receptor activity", "id": "GO:0007175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007175", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "uterine epithelium development", "id": "GO:0035847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035847", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "progesterone receptor signaling pathway", "id": "GO:0050847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050847", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "regulation of protein tyrosine kinase activity", "id": "GO:0061097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061097", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "limb joint morphogenesis", "id": "GO:0036022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036022", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "response to 1-oleoyl-sn-glycerol 3-phosphate", "id": "GO:1904565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904565", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Thr126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99JZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JZ7" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" }, { "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": "Q99JZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JZ7" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q99JZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JZ7" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q99JZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JZ7" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q99JZ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JZ7" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ7-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ7", "url": "https://www.uniprot.org/uniprotkb/Q99JZ7" } ] } ] } ], "record_id": "Q99JZ7-1" }, { "uniprot_canonical_ac": "P26048-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 451, "chemical_mass": 51139.0, "gene_names": "Gabra2;C630048P16Rik;Gabra-2;Gabra2", "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-2", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0112214", "name": "developmental and epileptic encephalopathy 78", "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.", "url": "https://disease-ontology.org/term/DOID:0112214", "evidence": [ { "id": "0112214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112214" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" } ], "biological_process": [ { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" } ], "molecular_function": [ { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "benzodiazepine receptor activity", "id": "GO:0008503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008503", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "GABA-gated chloride ion channel activity", "id": "GO:0022851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022851", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "id": "GO:0099507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099507", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" }, { "name": "extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005230", "evidence": [ { "database": "UniProtKB", "id": "P26048", "url": "https://www.uniprot.org/uniprotkb/P26048" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26048-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2321", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2321" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2321", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2321" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2321", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2321" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2321", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2321" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2321", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2321" } ] }, { "glytoucan_ac": "G92782LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SVAHNMTMPNKLLRIQDDGTLLYTMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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" } ] }, { "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": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "P26048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26048#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P26048-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNITIFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "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" } ] }, { "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": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "P26048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26048#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P26048-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Lys227", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KET->NET).", "chr_id": "5", "chr_pos": "71165288", "evidence": [ { "id": "rs3388761987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388761987" } ] } ] } ], "record_id": "P26048-1" }, { "uniprot_canonical_ac": "Q61835-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 88, "chemical_mass": 9526.0, "gene_names": "Fxyd3;Fxyd3;Mat8;Plml", "protein_name": "FXYD domain-containing ion transport regulator 3", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "ion channel regulator activity", "id": "GO:0099106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099106", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "positive regulation of sodium ion export across plasma membrane", "id": "GO:1903278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903278", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" }, { "name": "regulation of monoatomic ion transport", "id": "GO:0043269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043269", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61835-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Val5", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "N", "comment": "Does not lead to glycosylation, suggesting that the non-cleavable signal sequence remains partly or entirely embedded in the membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q61835", "url": "https://www.uniprot.org/uniprotkb/Q61835" }, { "database": "PubMed", "id": "15743908", "url": "https://glygen.org/publication/PubMed/15743908" } ] } ] } ], "record_id": "Q61835-1" }, { "uniprot_canonical_ac": "P01101-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 380, "chemical_mass": 40838.0, "gene_names": "Fos;D12Rfj1;Fos;c-fos;cFos", "protein_name": "Protein c-Fos", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:10112", "name": "sleeping sickness", "description": "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.", "url": "https://disease-ontology.org/term/DOID:10112", "evidence": [ { "id": "10112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10112" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11371", "name": "functional diarrhea", "description": "", "url": "https://disease-ontology.org/term/DOID:11371", "evidence": [ { "id": "11371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11371" } ], "weight": 0.0 }, { "disease_id": "DOID:11870", "name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "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:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2384", "name": "Wernicke encephalopathy", "description": "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).", "url": "https://disease-ontology.org/term/DOID:2384", "evidence": [ { "id": "2384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2384" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "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: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 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "conditioned taste aversion", "id": "GO:0001661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001661", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "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": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to parathyroid hormone stimulus", "id": "GO:0071374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071374", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to zinc ion starvation", "id": "GO:0034224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034224", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to phorbol 13-acetate 12-myristate", "id": "GO:1904628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904628", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to gravity", "id": "GO:0009629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009629", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "skeletal muscle cell proliferation", "id": "GO:0014856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014856", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "medium-term memory", "id": "GO:0072375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072375", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "mononuclear cell differentiation", "id": "GO:1903131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903131", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "response to forskolin", "id": "GO:1904321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904321", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "RNA polymerase II core promoter sequence-specific DNA binding", "id": "GO:0000979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000979", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" }, { "name": "transcription factor AP-1 complex", "id": "GO:0035976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035976", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01101-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "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": 56, "start_aa": "Ser", "end_pos": 56, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser56", "evidence": [ { "id": "30515991", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30515991" }, { "id": "P01101", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P01101" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "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": 57, "start_aa": "Ser", "end_pos": 57, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser57", "evidence": [ { "id": "30515991", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30515991" }, { "id": "P01101", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P01101" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Tyr10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "22169952", "url": "https://glygen.org/publication/PubMed/22169952" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on PDGF-stimulated enhancement of transcriptional activity. Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-325; A-331 and A-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Tyr30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Thr325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "17909266", "url": "https://glygen.org/publication/PubMed/17909266" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Almost no EGF-mediated phosphorylation, greatly reduced cellular transformation, and reduced AP1 activity by 20%; when associated with A-331. No effect on PDGF-stimulated enhancement of transcriptional activity. Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-232; A-331 and A-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "22169952", "url": "https://glygen.org/publication/PubMed/22169952" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Thr331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Almost no EGF-mediated phosphorylation, greatly reduced cellular transformation, and reduced AP1 activity by 20%; when associated with A-325. No effect on PDGF-stimulated enhancement of transcriptional activity. Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-232; A-325;and A-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "12629509", "url": "https://glygen.org/publication/PubMed/12629509" }, { "database": "PubMed", "id": "21119595", "url": "https://glygen.org/publication/PubMed/21119595" }, { "database": "PubMed", "id": "7588633", "url": "https://glygen.org/publication/PubMed/7588633" }, { "database": "PubMed", "id": "15719069", "url": "https://glygen.org/publication/PubMed/15719069" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with D-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Increased enhancement of EGF- and RSK-mediated transformation; when associated with E-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "12629509", "url": "https://glygen.org/publication/PubMed/12629509" }, { "database": "PubMed", "id": "21119595", "url": "https://glygen.org/publication/PubMed/21119595" }, { "database": "PubMed", "id": "22169952", "url": "https://glygen.org/publication/PubMed/22169952" }, { "database": "PubMed", "id": "7588633", "url": "https://glygen.org/publication/PubMed/7588633" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on PDGF-stimulated enhancement of transcriptional activity. Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-232; A-325 and A-331.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with D-362.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with E-362.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "12", "chr_pos": "85522931", "evidence": [ { "id": "rs3389225283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225283" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Lys139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "No effect on activation of phospholipid synthesis.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Arg144", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "No effect on activation of phospholipid synthesis, nor on CDS1-binding.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Arg146", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Complete loss of activation of phospholipid synthesis. No effect on CDS1-binding.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Phe343", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Reduced phosphorylation by ERK. Reduced AP1 activity by 65%.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Tyr345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced phosphorylation by ERK.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] } ], "record_id": "P01101-1" }, { "uniprot_canonical_ac": "P70339-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 274, "chemical_mass": 28875.0, "gene_names": "Frat1;Frat1", "protein_name": "Proto-oncogene FRAT1", "disease": [], "biological_process": [ { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular function inhibitor activity", "id": "GO:0140678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140678", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70339-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70339", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70339" } ] } ] }, { "uniprot_canonical_ac": "P70339-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70339", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70339" } ] } ] } ], "record_id": "P70339-1" }, { "uniprot_canonical_ac": "Q61345-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 45371.0, "gene_names": "Foxd1;BF-2;FREAC4;Fkhl8;Foxd1;Freac4;Hfh10;Hfhbf2", "protein_name": "Forkhead box protein D1", "disease": [], "biological_process": [ { "name": "luteinizing hormone secretion", "id": "GO:0032275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032275", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "pattern specification involved in metanephros development", "id": "GO:0072268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072268", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "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": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "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": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "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": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "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": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric nephron development", "id": "GO:0072210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072210", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "dichotomous subdivision of terminal units involved in ureteric bud branching", "id": "GO:0060678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060678", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "nephrogenic mesenchyme development", "id": "GO:0072076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072076", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric capsule development", "id": "GO:0072213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072213", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric capsule specification", "id": "GO:0072267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072267", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "positive regulation of kidney development", "id": "GO:0090184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090184", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding, bending", "id": "GO:0008301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008301", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61345-1" }, { "uniprot_canonical_ac": "Q69ZL1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1399, "chemical_mass": 155169.0, "gene_names": "Fgd6;Etohd4;Fgd6;Kiaa1362;ZFYVE24", "protein_name": "FYVE, RhoGEF and PH domain-containing protein 6", "disease": [ { "disease_id": "DOID:0110192", "name": "Charcot-Marie-Tooth disease type 4H", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).", "url": "https://disease-ontology.org/term/DOID:0110192", "evidence": [ { "id": "0110192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110192" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 }, { "disease_id": "DOID:6683", "name": "X-linked Aarskog syndrome", "description": "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.", "url": "https://disease-ontology.org/term/DOID:6683", "evidence": [ { "id": "6683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6683" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "1167", "end_pos": "1167", "site_lbl": "Ser1167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ] } ] }, { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ser494", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ] } ] }, { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ] } ] }, { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Ser583", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZL1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZL1" } ] } ] }, { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ] } ] }, { "uniprot_canonical_ac": "Q69ZL1-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ser697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZL1", "url": "https://www.uniprot.org/uniprotkb/Q69ZL1" } ] } ] } ], "record_id": "Q69ZL1-1" }, { "uniprot_canonical_ac": "Q8BGT1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 649, "chemical_mass": 72879.0, "gene_names": "Flrt3;5530600M07Rik;C430047I10Rik;Flrt3;Kiaa1469;mKIAA1469", "protein_name": "Leucine-rich repeat transmembrane protein FLRT3", "disease": [ { "disease_id": "DOID:0090093", "name": "hypogonadotropic hypogonadism 21 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.", "url": "https://disease-ontology.org/term/DOID:0090093", "evidence": [ { "id": "0090093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090093" } ], "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": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "growth cone membrane", "id": "GO:0032584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032584", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "proepicardium cell migration involved in pericardium morphogenesis", "id": "GO:0003345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003345", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "chemorepellent activity", "id": "GO:0045499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045499", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asn226", "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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4YEB&bu=0&command=select+.B:226;+center+selection;+zoom+selection" }, "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "4YEB", "database": "PDB", "url": "https://www.rcsb.org/structure/4YEB" }, { "id": "4YEB", "database": "PDB", "url": "https://www.rcsb.org/structure/4YEB" }, { "id": "4YEB|B|226", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Asn282", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31986NC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LDMSNNNLSNLPQGIFDDLDNITQLILR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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" } ] }, { "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": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "Q8BGT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Asn626", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNLSESSSNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 626, "start_aa": "Asn", "end_pos": 626, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn626", "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": "Q8BGT1-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Phe160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with ADGRL3.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" }, { "database": "PubMed", "id": "26235031", "url": "https://glygen.org/publication/PubMed/26235031" } ] }, { "sequence_org": "F", "sequence_mut": "N", "comment": "Abolishes interaction with ADGRL3.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" }, { "database": "PubMed", "id": "26235031", "url": "https://glygen.org/publication/PubMed/26235031" } ] } ] }, { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "165", "end_pos": "165", "site_lbl": "His165", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Abolishes interaction with UNC5B.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" }, { "database": "PubMed", "id": "25374360", "url": "https://glygen.org/publication/PubMed/25374360" } ] } ] }, { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Arg181", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Abolishes homooligomerization and FLRT3-mediated cell-cell adhesion; when associated with T-183.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" }, { "database": "PubMed", "id": "25374360", "url": "https://glygen.org/publication/PubMed/25374360" } ] } ] }, { "uniprot_canonical_ac": "Q8BGT1-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asp183", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes homooligomerization and FLRT3-mediated cell-cell adhesion; when associated with N-181.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT1", "url": "https://www.uniprot.org/uniprotkb/Q8BGT1" }, { "database": "PubMed", "id": "25374360", "url": "https://glygen.org/publication/PubMed/25374360" } ] } ] } ], "record_id": "Q8BGT1-1" }, { "uniprot_canonical_ac": "Q9EPB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 384, "chemical_mass": 40240.0, "gene_names": "Gpr88;Gpr88;Strg", "protein_name": "G protein-coupled receptor 88", "disease": [], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "beta2-adrenergic receptor activity", "id": "GO:0004941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004941", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "G protein-coupled photoreceptor activity", "id": "GO:0008020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008020", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "motor learning", "id": "GO:0061743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061743", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" }, { "name": "cellular response to light stimulus", "id": "GO:0071482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071482", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB7", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPB7-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "evidence": [ { "id": "Q9EPB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EPB7#ptm_processing" } ] } ] } ], "record_id": "Q9EPB7-1" }, { "uniprot_canonical_ac": "Q8CIM5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 396, "chemical_mass": 43717.0, "gene_names": "Gpr84;EX33;Gpr84", "protein_name": "G protein-coupled receptor 84", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "pmid": "" } ], "molecular_function": [ { "name": "urotensin II receptor activity", "id": "GO:0001604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001604", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "evidence": [ { "id": "Q8CIM5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Asn8", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 8, "start_aa": "Asn", "end_pos": 8, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn8", "evidence": [ { "id": "Q8CIM5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8CIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CIM5" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8CIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CIM5" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Thr264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM5", "url": "https://www.uniprot.org/uniprotkb/Q8CIM5" } ] } ] }, { "uniprot_canonical_ac": "Q8CIM5-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ile108", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "15", "chr_pos": "103217753", "evidence": [ { "id": "rs3389356572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389356572" } ] } ] } ], "record_id": "Q8CIM5-1" }, { "uniprot_canonical_ac": "Q921L8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 608, "chemical_mass": 69201.0, "gene_names": "Galnt11;A430075I06Rik;E430002F06Rik;Galnt11", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 11", "disease": [], "biological_process": [ { "name": "Notch signaling involved in heart development", "id": "GO:0061314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061314", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004653", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asn423", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 423, "start_aa": "Asn", "end_pos": 423, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn423", "evidence": [ { "id": "Q921L8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q921L8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SFGNISER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "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" } ] }, { "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": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "evidence": [ { "id": "Q921L8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q921L8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q921L8", "url": "https://www.uniprot.org/uniprotkb/Q921L8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q921L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921L8" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Met100", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25453838", "evidence": [ { "id": "rs3388753553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753553" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ile101", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25453839", "evidence": [ { "id": "rs3388734786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734786" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Arg110", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25453867", "evidence": [ { "id": "rs3388748536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748536" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Cys13", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25452528", "evidence": [ { "id": "rs3388732228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732228" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Cys141", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25455087", "evidence": [ { "id": "rs3388744206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744206" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Arg143", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25455092", "evidence": [ { "id": "rs243735137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243735137" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asp191", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25455238", "evidence": [ { "id": "rs3388740413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740413" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asp197", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25457025", "evidence": [ { "id": "rs3388740415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740415" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Leu202", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25457039", "evidence": [ { "id": "rs3388740382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740382" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Cys248", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25459935", "evidence": [ { "id": "rs3388753480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753480" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Gln256", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25459959", "evidence": [ { "id": "rs3388742342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742342" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Val290", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25460060", "evidence": [ { "id": "rs3388748486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748486" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Gly292", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25460067", "evidence": [ { "id": "rs3388740419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740419" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Asn338", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25462442", "evidence": [ { "id": "rs3388742319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742319" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Gln342", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25462452", "evidence": [ { "id": "rs3388740446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740446" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Tyr343", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25462457", "evidence": [ { "id": "rs3388742362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742362" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Phe369", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25463836", "evidence": [ { "id": "rs3388722143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388722143" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Pro385", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25463882", "evidence": [ { "id": "rs3388751530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751530" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Leu402", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25463933", "evidence": [ { "id": "rs3388748503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748503" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Asp408", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25463953", "evidence": [ { "id": "rs3388740401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740401" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Glu434", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25467000", "evidence": [ { "id": "rs3388744148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744148" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Gln481", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25467141", "evidence": [ { "id": "rs263710583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263710583" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Leu485", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25468378", "evidence": [ { "id": "rs3388740445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740445" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Lys492", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25468400", "evidence": [ { "id": "rs3388749683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749683" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ile4", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25452499", "evidence": [ { "id": "rs36734202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36734202" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "527", "end_pos": "527", "site_lbl": "His527", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25469982", "evidence": [ { "id": "rs3395200629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395200629" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25469983", "evidence": [ { "id": "rs3395010066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395010066" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Glu528", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25469985", "evidence": [ { "id": "rs3394732989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394732989" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Asp538", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470014", "evidence": [ { "id": "rs3388734787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734787" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470036", "evidence": [ { "id": "rs37913166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37913166" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Asp546", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470038", "evidence": [ { "id": "rs3388732202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732202" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Pro548", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470044", "evidence": [ { "id": "rs3388748535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748535" } ] }, { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470045", "evidence": [ { "id": "rs3388749662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749662" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Lys552", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470058", "evidence": [ { "id": "rs3388749642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749642" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Phe55", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25452652", "evidence": [ { "id": "rs3388749680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749680" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Asn568", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470255", "evidence": [ { "id": "rs3388734824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734824" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Arg569", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470258", "evidence": [ { "id": "rs3543300832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543300832" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470350", "evidence": [ { "id": "rs3388744223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744223" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Arg605", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25470366", "evidence": [ { "id": "rs3388722154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388722154" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Pro63", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25452676", "evidence": [ { "id": "rs3388745212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388745212" } ] } ] }, { "uniprot_canonical_ac": "Q921L8-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Lys89", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "25452755", "evidence": [ { "id": "rs3388748476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748476" } ] } ] } ], "record_id": "Q921L8-1" }, { "uniprot_canonical_ac": "P03995-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 430, "chemical_mass": 49900.0, "gene_names": "Gfap;Gfap", "protein_name": "Glial fibrillary acidic protein", "disease": [ { "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: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:4252", "name": "Alexander disease", "description": "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.", "url": "https://disease-ontology.org/term/DOID:4252", "evidence": [ { "id": "4252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4252" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "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": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "neuron projection regeneration", "id": "GO:0031102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031102", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "regulation of chaperone-mediated autophagy", "id": "GO:1904714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904714", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell proliferation", "id": "GO:0010625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010625", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "regulation of neurotransmitter uptake", "id": "GO:0051580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051580", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "D-aspartate import across plasma membrane", "id": "GO:0070779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070779", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "intermediate filament-based process", "id": "GO:0045103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045103", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "astrocyte projection", "id": "GO:0097449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097449", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "astrocyte end-foot", "id": "GO:0097450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097450", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P03995-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G26549SM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GTNESLERQMREQEER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 300, "start_aa": "Asn", "end_pos": 300, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn300", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NES->DES).", "chr_id": "11", "chr_pos": "102784081", "evidence": [ { "id": "rs3389201669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389201669" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Thr380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ser382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "P03995", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P03995", "url": "https://www.uniprot.org/uniprotkb/P03995" } ] } ] }, { "uniprot_canonical_ac": "P03995-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asp48", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "11", "chr_pos": "102787802", "evidence": [ { "id": "rs3413125481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413125481" } ] } ] } ], "record_id": "P03995-1" }, { "uniprot_canonical_ac": "Q6X632-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 540, "chemical_mass": 59531.0, "gene_names": "Gpr75;Gpr75", "protein_name": "Probable G protein-coupled receptor 75", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" }, { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q6X632", "url": "https://www.uniprot.org/uniprotkb/Q6X632" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6X632-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Asn184", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 184, "start_aa": "Asn", "end_pos": 184, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "Q6X632", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6X632#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6X632-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "Q6X632", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6X632#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6X632-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "evidence": [ { "id": "Q6X632", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6X632#ptm_processing" } ] } ] } ], "record_id": "Q6X632-1" }, { "uniprot_canonical_ac": "Q8C206-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 330, "chemical_mass": 36344.0, "gene_names": "Gpr157;F730108M23Rik;Gpr157", "protein_name": "G protein-coupled receptor 157", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" }, { "name": "radial glial cell differentiation", "id": "GO:0060019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060019", "evidence": [ { "database": "UniProtKB", "id": "Q8C206", "url": "https://www.uniprot.org/uniprotkb/Q8C206" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C206-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Thr311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8C206-1" }, { "uniprot_canonical_ac": "Q07133-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 208, "chemical_mass": 21540.0, "gene_names": "H1-6;H1f6;H1-6;H1.6;H1f6;H1ft;H1t;Hist1h1t", "protein_name": "Histone H1t", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" } ], "molecular_function": [ { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07133-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" }, { "database": "PubMed", "id": "19043117", "url": "https://glygen.org/publication/PubMed/19043117" }, { "database": "PubMed", "id": "18698803", "url": "https://glygen.org/publication/PubMed/18698803" }, { "database": "iPTMnet", "id": "Q07133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07133" } ] } ] }, { "uniprot_canonical_ac": "Q07133-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Thr156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" }, { "database": "PubMed", "id": "19043117", "url": "https://glygen.org/publication/PubMed/19043117" }, { "database": "PubMed", "id": "18698803", "url": "https://glygen.org/publication/PubMed/18698803" }, { "database": "iPTMnet", "id": "Q07133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07133" } ] } ] }, { "uniprot_canonical_ac": "Q07133-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" }, { "database": "PubMed", "id": "18698803", "url": "https://glygen.org/publication/PubMed/18698803" }, { "database": "iPTMnet", "id": "Q07133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07133" } ] } ] }, { "uniprot_canonical_ac": "Q07133-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" }, { "database": "PubMed", "id": "18698803", "url": "https://glygen.org/publication/PubMed/18698803" }, { "database": "PubMed", "id": "19043117", "url": "https://glygen.org/publication/PubMed/19043117" }, { "database": "iPTMnet", "id": "Q07133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07133" } ] } ] }, { "uniprot_canonical_ac": "Q07133-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07133", "url": "https://www.uniprot.org/uniprotkb/Q07133" }, { "database": "PubMed", "id": "19043117", "url": "https://glygen.org/publication/PubMed/19043117" }, { "database": "iPTMnet", "id": "Q07133", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07133" } ] } ] } ], "record_id": "Q07133-1" }, { "uniprot_canonical_ac": "P01942-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 142, "chemical_mass": 15085.0, "gene_names": "Hba;Hba-a1", "protein_name": "Hemoglobin subunit alpha", "disease": [ { "disease_id": "DOID:0110031", "name": "hemoglobin H disease", "description": "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.", "url": "https://disease-ontology.org/term/DOID:0110031", "evidence": [ { "id": "0110031", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110031" } ], "weight": 0.0 }, { "disease_id": "DOID:0111363", "name": "Heinz body anemia", "description": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.", "url": "https://disease-ontology.org/term/DOID:0111363", "evidence": [ { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" } ], "weight": 0.0 }, { "disease_id": "DOID:0111631", "name": "familial erythrocytosis 7", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111631", "evidence": [ { "id": "0111631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111631" } ], "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:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.", "url": "https://disease-ontology.org/term/DOID:1099", "evidence": [ { "id": "1099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" } ], "cellular_component": [ { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "hemoglobin complex", "id": "GO:0005833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005833", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "haptoglobin-hemoglobin complex", "id": "GO:0031838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031838", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" } ], "biological_process": [ { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "carbon dioxide transport", "id": "GO:0015670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" }, { "name": "oxygen transport", "id": "GO:0015671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015671", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01942-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "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": 53, "start_aa": "Ser", "end_pos": 53, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser53", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P01942", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Thr138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Tyr25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P01942", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ] } ] }, { "uniprot_canonical_ac": "P01942-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01942", "url": "https://www.uniprot.org/uniprotkb/P01942" } ] } ] } ], "record_id": "P01942-1" }, { "uniprot_canonical_ac": "Q61586-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 827, "chemical_mass": 93705.0, "gene_names": "Gpam;GPAT-1;GPAT1;GPAT;Gpam;Gpat1;P90", "protein_name": "Glycerol-3-phosphate acyltransferase 1, mitochondrial", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "diacylglycerol biosynthetic process", "id": "GO:0006651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006651", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "negative regulation of activation-induced cell death of T cells", "id": "GO:0070236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070236", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "phosphatidylglycerol biosynthetic process", "id": "GO:0006655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006655", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "CDP-diacylglycerol biosynthetic process", "id": "GO:0016024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016024", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" } ], "molecular_function": [ { "name": "glycerol-3-phosphate O-acyltransferase activity", "id": "GO:0004366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004366", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61586-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" } ] } ] }, { "uniprot_canonical_ac": "Q61586-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" }, { "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": "Q61586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61586" } ] } ] }, { "uniprot_canonical_ac": "Q61586-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Ser694", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61586", "url": "https://www.uniprot.org/uniprotkb/Q61586" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61586" } ] } ] } ], "record_id": "Q61586-1" }, { "uniprot_canonical_ac": "Q91X51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 446, "chemical_mass": 46882.0, "gene_names": "Gorasp1;5430411C10Rik;GOLPH5;GRASP65;Gorasp1;P65", "protein_name": "Golgi reassembly-stacking protein 1", "disease": [ { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" }, { "name": "negative regulation of dendrite morphogenesis", "id": "GO:0050774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050774", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" }, { "name": "Golgi ribbon formation", "id": "GO:0090161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090161", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" }, { "name": "establishment of protein localization to plasma membrane", "id": "GO:0061951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061951", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 216, "start_aa": "Thr", "end_pos": 216, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr216", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X51" } ] } ] }, { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Thr220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 220, "start_aa": "Thr", "end_pos": 220, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr220", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X51" } ] } ] }, { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ] } ] }, { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X51" } ] } ] }, { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ser367", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" } ] } ] }, { "uniprot_canonical_ac": "Q91X51-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X51", "url": "https://www.uniprot.org/uniprotkb/Q91X51" }, { "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": "Q91X51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X51" } ] } ] } ], "record_id": "Q91X51-1" }, { "uniprot_canonical_ac": "P15864-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 21267.0, "gene_names": "H1-2;0610008C09Rik;H1-2;H1.2;H1c;H1f2;H1var1;His1a;Hist1h1c", "protein_name": "Histone H1.2", "disease": [ { "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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" } ], "molecular_function": [ { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "histone H3K27me3 reader activity", "id": "GO:0061628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061628", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "regulation of mRNA splicing, via spliceosome", "id": "GO:0048024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048024", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" }, { "name": "facultative heterochromatin formation", "id": "GO:0140718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140718", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P15864-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Ser104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ] } ] }, { "uniprot_canonical_ac": "P15864-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Thr146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" }, { "database": "iPTMnet", "id": "P15864", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P15864" }, { "database": "PubMed", "id": "28392790", "url": "https://glygen.org/publication/PubMed/28392790" } ] } ] }, { "uniprot_canonical_ac": "P15864-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Ser173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ] } ] }, { "uniprot_canonical_ac": "P15864-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" } ] } ] }, { "uniprot_canonical_ac": "P15864-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Arg54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Mimics the charge change that accompanies citrullination, resulting in impaired nucleosome-binding.", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" }, { "database": "PubMed", "id": "24463520", "url": "https://glygen.org/publication/PubMed/24463520" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Retains the positive charge, resulting in slightly decreased nucleosome-binding.", "evidence": [ { "database": "UniProtKB", "id": "P15864", "url": "https://www.uniprot.org/uniprotkb/P15864" }, { "database": "PubMed", "id": "24463520", "url": "https://glygen.org/publication/PubMed/24463520" } ] } ] } ], "record_id": "P15864-1" }, { "uniprot_canonical_ac": "Q64475-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 126, "chemical_mass": 13952.0, "gene_names": "H2bc3;H2b-143;H2bc3;Hist1h2bb", "protein_name": "Histone H2B type 1-B", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" } ], "biological_process": [ { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64475-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 113, "start_aa": "Ser", "end_pos": 113, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser113", "evidence": [ { "id": "Q64475", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64475#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64475-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Thr116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" } ] } ] }, { "uniprot_canonical_ac": "Q64475-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" }, { "database": "iPTMnet", "id": "Q64475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64475" }, { "database": "PubMed", "id": "15197225", "url": "https://glygen.org/publication/PubMed/15197225" }, { "database": "PubMed", "id": "16039583", "url": "https://glygen.org/publication/PubMed/16039583" } ] } ] }, { "uniprot_canonical_ac": "Q64475-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ser37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64475", "url": "https://www.uniprot.org/uniprotkb/Q64475" }, { "database": "iPTMnet", "id": "Q64475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64475" }, { "database": "PubMed", "id": "32822587", "url": "https://glygen.org/publication/PubMed/32822587" }, { "database": "PubMed", "id": "20647423", "url": "https://glygen.org/publication/PubMed/20647423" } ] } ] } ], "record_id": "Q64475-1" }, { "uniprot_canonical_ac": "Q6NZP2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 473, "chemical_mass": 51966.0, "gene_names": "Gpbp1l1;5330440M15Rik;Gpbp1l1", "protein_name": "Vasculin-like protein 1", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "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": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ] } ] }, { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NZP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NZP2" } ] } ] }, { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Thr298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ] } ] }, { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" } ] } ] }, { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NZP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NZP2" } ] } ] }, { "uniprot_canonical_ac": "Q6NZP2-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP2", "url": "https://www.uniprot.org/uniprotkb/Q6NZP2" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6NZP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NZP2" } ] } ] } ], "record_id": "Q6NZP2-1" }, { "uniprot_canonical_ac": "Q9ERP3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 366, "chemical_mass": 41131.0, "gene_names": "Trim54;4930486E09Rik;4930566I02Rik;MURF-3;MURF;MuRF3;Murf;Rnf30;Trim54", "protein_name": "Tripartite motif-containing protein 54", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9ERP3", "url": "https://www.uniprot.org/uniprotkb/Q9ERP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERP3-1" }, { "uniprot_canonical_ac": "P14142-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 509, "chemical_mass": 54755.0, "gene_names": "Slc2a4;GT2;Glut-4;Glut4;Slc2a4;twgy", "protein_name": "Solute carrier family 2, facilitated glucose transporter member 4", "disease": [ { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "dehydroascorbic acid transport", "id": "GO:0070837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070837", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "D-glucose transmembrane transport", "id": "GO:1904659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904659", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "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": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "amylopectin biosynthetic process", "id": "GO:0010021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010021", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "glucose import in response to insulin stimulus", "id": "GO:0044381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044381", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle budding from presynaptic endocytic zone membrane", "id": "GO:0098694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098694", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "positive regulation of brain-derived neurotrophic factor receptor signaling pathway", "id": "GO:0031550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031550", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cellular response to fructose stimulus", "id": "GO:0071332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071332", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "fructose import across plasma membrane", "id": "GO:1990539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990539", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" } ], "molecular_function": [ { "name": "insulin-responsive D-glucose:proton symporter activity", "id": "GO:0005360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005360", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "D-glucose transmembrane transporter activity", "id": "GO:0055056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055056", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "D-glucose uniporter activity", "id": "GO:0015304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015304", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "fructose transmembrane transporter activity", "id": "GO:0005353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005353", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14142-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Asn57", "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": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "P14142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14142#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Thr486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P14142", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14142" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Ser488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14142", "url": "https://www.uniprot.org/uniprotkb/P14142" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P14142", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14142" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Gln104", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837125", "evidence": [ { "id": "rs3389168843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389168843" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Arg110", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837015", "evidence": [ { "id": "rs3389143431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389143431" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Leu128", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836960", "evidence": [ { "id": "rs3389178924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178924" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ala132", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836948", "evidence": [ { "id": "rs3402376565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402376565" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Gly154", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836768", "evidence": [ { "id": "rs3389171581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389171581" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Pro15", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837501", "evidence": [ { "id": "rs3389170687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389170687" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Gly173", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836711", "evidence": [ { "id": "rs3389184737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389184737" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Leu190", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836547", "evidence": [ { "id": "rs3389170742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389170742" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ala213", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836479", "evidence": [ { "id": "rs3389168905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389168905" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Asn235", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "MM*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836412_69836413insACCTCTACA", "evidence": [ { "id": "rs3402439411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402439411" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Arg246", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836273", "evidence": [ { "id": "rs3389183370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183370" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ile289", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836145", "evidence": [ { "id": "rs3389175180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389175180" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ala329", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69835862", "evidence": [ { "id": "rs3389174050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389174050" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Leu366", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69835638", "evidence": [ { "id": "rs3389168878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389168878" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Leu36", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69836960", "evidence": [ { "id": "rs3389178924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178924" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Gln37", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837435", "evidence": [ { "id": "rs3389178910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178910" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Pro447", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69834871", "evidence": [ { "id": "rs3548677988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548677988" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Val455", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69834362", "evidence": [ { "id": "rs3389175172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389175172" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Lys50", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837015", "evidence": [ { "id": "rs3389143431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389143431" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ile52", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837281", "evidence": [ { "id": "rs3402386030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402386030" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asp70", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837226", "evidence": [ { "id": "rs3389183418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183418" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ile94", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837155", "evidence": [ { "id": "rs3389173980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389173980" } ] } ] }, { "uniprot_canonical_ac": "P14142-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "11", "chr_pos": "69837148", "evidence": [ { "id": "rs3389109197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389109197" } ] } ] } ], "record_id": "P14142-1" }, { "uniprot_canonical_ac": "P21279-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 42158.0, "gene_names": "Gnaq;1110005L02Rik;6230401I02Rik;Dsk10;Dsk1;Galphaq;Gnaq;GqI;Gq", "protein_name": "Guanine nucleotide-binding protein G(q) subunit alpha", "disease": [ { "disease_id": "DOID:0111529", "name": "familial multiple nevi flammei", "description": "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.", "url": "https://disease-ontology.org/term/DOID:0111529", "evidence": [ { "id": "0111529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111529" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1858", "name": "McCune Albright syndrome", "description": "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and caf-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.", "url": "https://disease-ontology.org/term/DOID:1858", "evidence": [ { "id": "1858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1858" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating dopamine receptor signaling pathway", "id": "GO:0060158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060158", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled glutamate receptor signaling pathway", "id": "GO:0007206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007206", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "regulation of melanocyte differentiation", "id": "GO:0045634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045634", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "regulation of platelet activation", "id": "GO:0010543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010543", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007207", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating serotonin receptor signaling pathway", "id": "GO:0007208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007208", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "cellular response to acidic pH", "id": "GO:0071468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071468", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "forebrain neuron development", "id": "GO:0021884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021884", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "maternal behavior", "id": "GO:0042711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042711", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "response to prostaglandin E", "id": "GO:0034695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034695", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "glutamate receptor signaling pathway", "id": "GO:0007215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007215", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "ligand-gated ion channel signaling pathway", "id": "GO:1990806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990806", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "sensory perception of itch", "id": "GO:0160025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160025", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway", "id": "GO:0140582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140582", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "phospholipase C-activating tachykinin receptor signaling pathway", "id": "GO:0007209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007209", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "positive regulation of gonadotropin secretion", "id": "GO:0032278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032278", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" } ], "molecular_function": [ { "name": "alkylglycerophosphoethanolamine phosphodiesterase activity", "id": "GO:0047391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047391", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P21279-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Cys10", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" }, { "database": "PubMed", "id": "8227063", "url": "https://glygen.org/publication/PubMed/8227063" } ] } ] }, { "uniprot_canonical_ac": "P21279-1", "start_pos": "218", "end_pos": "218", "site_lbl": "His218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced ability to activate phospholipase PLCB3.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" }, { "database": "PubMed", "id": "20966218", "url": "https://glygen.org/publication/PubMed/20966218" } ] } ] }, { "uniprot_canonical_ac": "P21279-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Cys9", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprotkb/P21279" }, { "database": "PubMed", "id": "8227063", "url": "https://glygen.org/publication/PubMed/8227063" } ] } ] } ], "record_id": "P21279-1" }, { "uniprot_canonical_ac": "P43276-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 223, "chemical_mass": 22576.0, "gene_names": "H1-5;H1-5;H1.5;H1B;H1f5;H1s-3;Hist1h1b", "protein_name": "Histone H1.5", "disease": [], "biological_process": [ { "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": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "establishment of protein localization to chromatin", "id": "GO:0071169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071169", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43276-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Thr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" }, { "database": "PubMed", "id": "28539972", "url": "https://glygen.org/publication/PubMed/28539972" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" }, { "database": "PubMed", "id": "28539972", "url": "https://glygen.org/publication/PubMed/28539972" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P43276", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43276" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" } ] } ] }, { "uniprot_canonical_ac": "P43276-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Thr36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43276", "url": "https://www.uniprot.org/uniprotkb/P43276" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P43276", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43276" } ] } ] } ], "record_id": "P43276-1" }, { "uniprot_canonical_ac": "Q9WV38-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 501, "chemical_mass": 55409.0, "gene_names": "Slc2a5;Glut5;Slc2a5;Slc5a", "protein_name": "Solute carrier family 2, facilitated glucose transporter member 5", "disease": [], "biological_process": [ { "name": "dehydroascorbic acid transport", "id": "GO:0070837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070837", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "D-glucose transmembrane transport", "id": "GO:1904659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904659", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "response to fructose", "id": "GO:0009750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009750", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure mediated by a chemical signal", "id": "GO:0003044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003044", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "fructose transmembrane transport", "id": "GO:0015755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015755", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "cellular response to fructose stimulus", "id": "GO:0071332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071332", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "fructose import across plasma membrane", "id": "GO:1990539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990539", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" } ], "molecular_function": [ { "name": "fructose binding", "id": "GO:0070061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070061", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "fructose transmembrane transporter activity", "id": "GO:0005353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005353", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" }, { "name": "D-glucose transmembrane transporter activity", "id": "GO:0055056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055056", "evidence": [ { "database": "UniProtKB", "id": "Q9WV38", "url": "https://www.uniprot.org/uniprotkb/Q9WV38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Thr317", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 317, "start_aa": "Thr", "end_pos": 317, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr317", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "Q9WV38", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV38#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Glu11", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150210048", "evidence": [ { "id": "rs3388725609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725609" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150210048", "evidence": [ { "id": "rs3388725609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725609" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Leu161", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150220066", "evidence": [ { "id": "rs3412972041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412972041" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Val164", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150220076", "evidence": [ { "id": "rs3543039778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543039778" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Glu254", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150224155", "evidence": [ { "id": "rs5526940886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526940886" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Thr350", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150225271", "evidence": [ { "id": "rs3388728707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728707" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Thr359", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150225298", "evidence": [ { "id": "rs3388725648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725648" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ser391", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227257", "evidence": [ { "id": "rs3388736099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388736099" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Pro392", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227259", "evidence": [ { "id": "rs3388719476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719476" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Pro394", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227265", "evidence": [ { "id": "rs3388721587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721587" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Phe449", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227527", "evidence": [ { "id": "rs3543124887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543124887" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Ile468", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227584", "evidence": [ { "id": "rs3542997627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542997627" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Gln46", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150210589", "evidence": [ { "id": "rs3388728730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728730" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ala493", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150227659", "evidence": [ { "id": "rs3543088922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543088922" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "5", "end_pos": "5", "site_lbl": "His5", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150205205", "evidence": [ { "id": "rs3543009974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543009974" } ] } ] }, { "uniprot_canonical_ac": "Q9WV38-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Thr65", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "4", "chr_pos": "150210646", "evidence": [ { "id": "rs3388732128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732128" } ] } ] } ], "record_id": "Q9WV38-1" }, { "uniprot_canonical_ac": "Q61768-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 963, "chemical_mass": 109551.0, "gene_names": "Kif5b;Khcs;Khc;Kif5b;Kns1;Ukhc", "protein_name": "Kinesin-1 heavy chain", "disease": [ { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytolytic granule membrane", "id": "GO:0101004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101004", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "anterograde axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "mitochondrial transport", "id": "GO:0006839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006839", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "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": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "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": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "plus-end-directed vesicle transport along microtubule", "id": "GO:0072383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072383", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytoplasm organization", "id": "GO:0007028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007028", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "anterograde dendritic transport of neurotransmitter receptor complex", "id": "GO:0098971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098971", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated sodium channel activity", "id": "GO:1905152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905152", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule-based process", "id": "GO:0007017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007017", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "stress granule disassembly", "id": "GO:0035617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035617", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "retrograde neuronal dense core vesicle transport", "id": "GO:1990049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990049", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "mitocytosis", "id": "GO:0160040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160040", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "regulation of modification of synapse structure, modulating synaptic transmission", "id": "GO:0098987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098987", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "transport along microtubule", "id": "GO:0010970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010970", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "plus-end-directed microtubule motor activity", "id": "GO:0008574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008574", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule lateral binding", "id": "GO:0099609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099609", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61768-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Asn19", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G08609CW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PLNESEVNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 19, "start_aa": "Asn", "end_pos": 19, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "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": "Q61768-1", "start_pos": "933", "end_pos": "933", "site_lbl": "Ser933", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ] } ] }, { "uniprot_canonical_ac": "Q61768-1", "start_pos": "945", "end_pos": "945", "site_lbl": "Ser945", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" }, { "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": "Q61768", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61768" } ] } ] } ], "record_id": "Q61768-1" }, { "uniprot_canonical_ac": "O70309-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 798, "chemical_mass": 87909.0, "gene_names": "Itgb5;ESTM23;Itgb5;[b]-5;[b]5A;[b]5B;[b]5;beta-5;beta5", "protein_name": "Integrin beta-5", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "integrin alphav-beta5 complex", "id": "GO:0034684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034684", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" } ], "biological_process": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "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": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70309-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Asn347", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFTALIPGTTVEILHGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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" } ] }, { "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": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Asn460", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 460, "start_aa": "Asn", "end_pos": 460, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn460", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Asn479", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 479, "start_aa": "Asn", "end_pos": 479, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn479", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Asn505", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CECQEGENQSGYQNLCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 505, "start_aa": "Asn", "end_pos": 505, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "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" } ] }, { "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": 505, "start_aa": "Asn", "end_pos": 505, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Asn586", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2406", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2406" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCNCSTDVSTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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" } ] }, { "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": 586, "start_aa": "Asn", "end_pos": 586, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Asn654", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DCVECLLLHQGKPDNQTCHHQCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 654, "start_aa": "Asn", "end_pos": 654, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn654", "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" } ] }, { "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": 654, "start_aa": "Asn", "end_pos": 654, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn654", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Asn705", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNLTVLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 705, "start_aa": "Asn", "end_pos": 705, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn705", "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" } ] }, { "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": 705, "start_aa": "Asn", "end_pos": 705, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn705", "evidence": [ { "id": "O70309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70309#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70309-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Ser770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70309", "url": "https://www.uniprot.org/uniprotkb/O70309" } ] } ] } ], "record_id": "O70309-1" }, { "uniprot_canonical_ac": "P24063-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1162, "chemical_mass": 128314.0, "gene_names": "Itgal;(p180);Cd11a;Itgal;LFA-1A;LFA-1;Lfa-1;Ly-15;Ly-21", "protein_name": "Integrin alpha-L", "disease": [ { "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 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "id": "GO:0002291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002291", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by integrin", "id": "GO:0033631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033631", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "activated T cell proliferation", "id": "GO:0050798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050798", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "neuron cell-cell adhesion", "id": "GO:0007158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007158", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "memory T cell extravasation", "id": "GO:0035683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035683", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "integrin alphaL-beta2 complex", "id": "GO:0034687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034687", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "ICAM-3 receptor activity", "id": "GO:0030369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030369", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "P24063", "url": "https://www.uniprot.org/uniprotkb/P24063" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P24063-1", "start_pos": "1057", "end_pos": "1057", "site_lbl": "Asn1057", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1057, "start_aa": "Asn", "end_pos": 1057, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1057", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLSNTSYQFAAVQFSTDCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "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" } ] }, { "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": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Asn270", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72000PU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLVIITDGEASDKGNISAAHDITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "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" } ] }, { "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": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Asn444", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Asn668", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 668, "start_aa": "Asn", "end_pos": 668, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn668", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "7", "chr_pos": "126913500", "evidence": [ { "id": "rs3388953137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953137" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Asn696", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 696, "start_aa": "Asn", "end_pos": 696, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn696", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Asn724", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 724, "start_aa": "Asn", "end_pos": 724, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn724", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Asn728", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 728, "start_aa": "Asn", "end_pos": 728, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn728", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Asn777", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 777, "start_aa": "Asn", "end_pos": 777, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn777", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->DLT).", "chr_id": "7", "chr_pos": "126921269", "evidence": [ { "id": "rs1133703357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133703357" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Asn858", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CNVSSPIFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 858, "start_aa": "Asn", "end_pos": 858, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn858", "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" } ] }, { "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": 858, "start_aa": "Asn", "end_pos": 858, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn858", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Asn881", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 881, "start_aa": "Asn", "end_pos": 881, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn881", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "7", "chr_pos": "126924228", "evidence": [ { "id": "rs3388928575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388928575" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Asn891", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 891, "start_aa": "Asn", "end_pos": 891, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn891", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "900", "end_pos": "900", "site_lbl": "Asn900", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 900, "start_aa": "Asn", "end_pos": 900, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn900", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Asn928", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 928, "start_aa": "Asn", "end_pos": 928, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn928", "evidence": [ { "id": "P24063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24063#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "7", "chr_pos": "126909486", "evidence": [ { "id": "rs3388955383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388955383" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "7", "chr_pos": "126913504", "evidence": [ { "id": "rs3388949062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388949062" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Thr779", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "7", "chr_pos": "126921275", "evidence": [ { "id": "rs221478191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221478191" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Ser902", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSR).", "chr_id": "7", "chr_pos": "126924387", "evidence": [ { "id": "rs3388944412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944412" } ] } ] }, { "uniprot_canonical_ac": "P24063-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Ile921", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "7", "chr_pos": "126924443", "evidence": [ { "id": "rs3388907493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907493" } ] } ] } ], "record_id": "P24063-1" }, { "uniprot_canonical_ac": "Q8BR86-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 778, "chemical_mass": 85405.0, "gene_names": "Kirrel3;1500010O20Rik;2900036G11Rik;Kiaa1867;Kirrel3;NEPH2;Neph2;SST4;mKIAA1867", "protein_name": "Kin of IRRE-like protein 3", "disease": [ { "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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "biological_process": [ { "name": "inter-male aggressive behavior", "id": "GO:0002121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002121", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "principal sensory nucleus of trigeminal nerve development", "id": "GO:0021740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021740", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "glomerulus morphogenesis", "id": "GO:0072102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072102", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q8BR86", "url": "https://www.uniprot.org/uniprotkb/Q8BR86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BR86-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asn167", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49755GI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AGDPLNLTCHADNAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "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" } ] }, { "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": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "Q8BR86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BR86#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BR86-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Asn253", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 253, "start_aa": "Asn", "end_pos": 253, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn253", "evidence": [ { "id": "Q8BR86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BR86#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BR86-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Asn324", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2452", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2452" } ] }, { "glytoucan_ac": "G54309RY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TTVDYTYFSEPVSCEVTNALGSTNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "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" } ] }, { "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": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "Q8BR86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BR86#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BR86-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Asn498", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 498, "start_aa": "Asn", "end_pos": 498, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn498", "evidence": [ { "id": "Q8BR86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BR86#ptm_processing" } ] } ] } ], "record_id": "Q8BR86-1" }, { "uniprot_canonical_ac": "Q8CDD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDD8", "url": "https://www.uniprot.org/uniprotkb/Q8CDD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 419, "chemical_mass": 47068.0, "gene_names": "Kctd20;2410004N11Rik;D17Ertd562e;Kctd20", "protein_name": "BTB/POZ domain-containing protein KCTD20", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD8", "url": "https://www.uniprot.org/uniprotkb/Q8CDD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD8", "url": "https://www.uniprot.org/uniprotkb/Q8CDD8" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q8CDD8", "url": "https://www.uniprot.org/uniprotkb/Q8CDD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CDD8-1" }, { "uniprot_canonical_ac": "O55236-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 597, "chemical_mass": 68684.0, "gene_names": "Rngtt;Cap1a;HCE;MCE1;Rngtt", "protein_name": "mRNA-capping enzyme", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "mRNA guanylyltransferase activity", "id": "GO:0004484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004484", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "RNA guanylyltransferase activity", "id": "GO:0008192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008192", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "inorganic triphosphate phosphatase activity", "id": "GO:0050355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050355", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "mRNA 5'-triphosphate monophosphatase activity", "id": "GO:0140818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140818", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" }, { "name": "7-methylguanosine mRNA capping", "id": "GO:0006370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006370", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O55236-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asn69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MSLLVDLTNTSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "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": "O55236-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Lys208", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "4", "chr_pos": "33331022", "evidence": [ { "id": "rs5526538098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526538098" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Cys110", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "125", "end_pos": "125", "site_lbl": "His125", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decrease of 55-60% of TPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Cys126", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of TPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Arg132", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of TPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decrease of 55-60% of TPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Cys138", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asp168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Lys290", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Lys294", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9371772", "url": "https://glygen.org/publication/PubMed/9371772" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Arg315", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Almost complete loss of RNA-binding and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "At least 60% of RNA-binding activity and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Asp36", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Cys375", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Increases stimulation of GTase activity by POLR2A binding.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "21683636", "url": "https://glygen.org/publication/PubMed/21683636" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Arg530", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Almost complete loss of RNA-binding and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Lys533", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Almost complete loss of RNA-binding and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "At least 60% of RNA-binding activity and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Asn537", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Almost complete loss of RNA-binding and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "At least 60% of RNA binding activity and loss of GTase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] }, { "uniprot_canonical_ac": "O55236-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asp66", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decrease of >90% of TPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O55236", "url": "https://www.uniprot.org/uniprotkb/O55236" }, { "database": "PubMed", "id": "9770468", "url": "https://glygen.org/publication/PubMed/9770468" } ] } ] } ], "record_id": "O55236-1" }, { "uniprot_canonical_ac": "Q5DTJ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1315, "chemical_mass": 144114.0, "gene_names": "Mypn;1110056A04Rik;9830112J03;Kiaa4170;Mypn;mKIAA4170", "protein_name": "Myopalladin", "disease": [ { "disease_id": "DOID:0110445", "name": "dilated cardiomyopathy 1KK", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0110445", "evidence": [ { "id": "0110445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110445" } ], "weight": 0.0 }, { "disease_id": "DOID:0110933", "name": "nemaline myopathy 11", "description": "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0110933", "evidence": [ { "id": "0110933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110933" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" }, { "name": "dendrite self-avoidance", "id": "GO:0070593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070593", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Thr249", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 249, "start_aa": "Thr", "end_pos": 249, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr249", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Thr388", "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": 388, "start_aa": "Thr", "end_pos": 388, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr388", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q5DTJ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5DTJ9" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q5DTJ9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "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": 389, "start_aa": "Ser", "end_pos": 389, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser389", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q5DTJ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5DTJ9" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q5DTJ9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Thr792", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 792, "start_aa": "Thr", "end_pos": 792, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr792", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "811", "end_pos": "811", "site_lbl": "Thr811", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 811, "start_aa": "Thr", "end_pos": 811, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr811", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "62971607", "evidence": [ { "id": "rs3389113870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389113870" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5DTJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Ser641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Ser754", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Ser809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ser814", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Ser903", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "924", "end_pos": "924", "site_lbl": "Ser924", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5DTJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5DTJ9", "url": "https://www.uniprot.org/uniprotkb/Q5DTJ9" } ] } ] }, { "uniprot_canonical_ac": "Q5DTJ9-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ala225", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHA->NHT).", "chr_id": "10", "chr_pos": "63028389", "evidence": [ { "id": "rs3389105900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389105900" } ] } ] } ], "record_id": "Q5DTJ9-1" }, { "uniprot_canonical_ac": "Q99104-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1853, "chemical_mass": 215538.0, "gene_names": "Myo5a;9630007J19Rik;Dbv;Dilute;MVa;Myo5a;Myo5;MyoVA;Sev-1;d-120J;d;flail;flr", "protein_name": "Unconventional myosin-Va", "disease": [ { "disease_id": "DOID:0060832", "name": "Griscelli syndrome type 1", "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.", "url": "https://disease-ontology.org/term/DOID:0060832", "evidence": [ { "id": "0060832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060832" } ], "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": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actomyosin", "id": "GO:0042641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042641", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "unconventional myosin complex", "id": "GO:0016461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016461", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actomyosin, myosin complex part", "id": "GO:0042642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042642", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cellular response to insulin stimulus", "id": "GO:1900078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900078", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "hair follicle maturation", "id": "GO:0048820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048820", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "locomotion involved in locomotory behavior", "id": "GO:0031987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031987", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "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": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "post-Golgi vesicle-mediated transport", "id": "GO:0006892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006892", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "vesicle transport along actin filament", "id": "GO:0030050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030050", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "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": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanosome transport", "id": "GO:0032402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032402", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "positive regulation of cytochrome-c oxidase activity", "id": "GO:1904960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904960", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanosome localization", "id": "GO:0032400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032400", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "endoplasmic reticulum localization", "id": "GO:0051643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051643", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "long-chain fatty acid biosynthetic process", "id": "GO:0042759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042759", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanin metabolic process", "id": "GO:0006582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006582", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "negative regulation of dopamine secretion", "id": "GO:0033602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033602", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "secretory granule localization", "id": "GO:0032252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032252", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:0099566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099566", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "axo-dendritic protein transport", "id": "GO:0099640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099640", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "establishment of endoplasmic reticulum localization to postsynapse", "id": "GO:0099089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099089", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "reactive gliosis", "id": "GO:0150103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150103", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "phenol-containing compound metabolic process", "id": "GO:0018958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018958", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "ATP-dependent protein binding", "id": "GO:0043008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043008", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99104-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Asn216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95865ZB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLASNPIMESIGNAKTTRNDNSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 216, "start_aa": "Asn", "end_pos": 216, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn216", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "9", "chr_pos": "75043660", "evidence": [ { "id": "rs3389045626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045626" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Thr602", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 602, "start_aa": "Thr", "end_pos": 602, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr602", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Thr1032", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1450", "end_pos": "1450", "site_lbl": "Ser1450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99104", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99104" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1650", "end_pos": "1650", "site_lbl": "Ser1650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99104", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99104" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1758", "end_pos": "1758", "site_lbl": "Thr1758", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99104", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99104" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1291", "end_pos": "1291", "site_lbl": "Asp1291", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "9", "chr_pos": "75097194", "evidence": [ { "id": "rs3389045661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045661" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1528", "end_pos": "1528", "site_lbl": "Arg1528", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Slightly reduces affinity for MLPH.", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "23798443", "url": "https://glygen.org/publication/PubMed/23798443" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Ile1535", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "E", "comment": "Strongly reduces affinity for MLPH and SYTL4.", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "23798443", "url": "https://glygen.org/publication/PubMed/23798443" } ] } ] }, { "uniprot_canonical_ac": "Q99104-1", "start_pos": "1539", "end_pos": "1539", "site_lbl": "Lys1539", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Strongly reduces affinity for MLPH and SYTL4.", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" }, { "database": "PubMed", "id": "23798443", "url": "https://glygen.org/publication/PubMed/23798443" } ] } ] } ], "record_id": "Q99104-1" }, { "uniprot_canonical_ac": "Q64331-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1262, "chemical_mass": 145806.0, "gene_names": "Myo6;Myo6;Myo6;Sv;Tlc;rsv;sv", "protein_name": "Unconventional myosin-VI", "disease": [ { "disease_id": "DOID:0110495", "name": "autosomal recessive nonsyndromic deafness 37", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0110495", "evidence": [ { "id": "0110495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110495" } ], "weight": 0.0 }, { "disease_id": "DOID:0110552", "name": "autosomal dominant nonsyndromic deafness 22", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0110552", "evidence": [ { "id": "0110552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110552" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 } ], "biological_process": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "postsynaptic neurotransmitter receptor internalization", "id": "GO:0098884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098884", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "glutamate secretion", "id": "GO:0014047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014047", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "regulation of secretion", "id": "GO:0051046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051046", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cochlear hair cell ribbon synapse", "id": "GO:0098683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098683", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "presynaptic endocytic zone", "id": "GO:0098833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098833", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045334", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64331-1", "start_pos": "1019", "end_pos": "1019", "site_lbl": "Asn1019", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G50166CH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IAQNESELISDEAQGDMALR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1019, "start_aa": "Asn", "end_pos": 1019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1019", "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": "Q64331-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 13, "start_aa": "Thr", "end_pos": 13, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr13", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "1025", "end_pos": "1025", "site_lbl": "Ser1025", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64331" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "1123", "end_pos": "1123", "site_lbl": "Ser1123", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64331" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ser604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64331", "url": "https://www.uniprot.org/uniprotkb/Q64331" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64331" } ] } ] }, { "uniprot_canonical_ac": "Q64331-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Lys217", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEK->NET).", "chr_id": "9", "chr_pos": "80153018", "evidence": [ { "id": "rs3389056813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389056813" } ] } ] } ], "record_id": "Q64331-1" }, { "uniprot_canonical_ac": "P27573-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 27622.0, "gene_names": "Mpz;Mpp;Mpz;P-zero;P0", "protein_name": "Myelin protein P0", "disease": [ { "disease_id": "DOID:0050540", "name": "Charcot-Marie-Tooth disease type 3", "description": "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.", "url": "https://disease-ontology.org/term/DOID:0050540", "evidence": [ { "id": "0050540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050540" } ], "weight": 0.0 }, { "disease_id": "DOID:0090111", "name": "PCWH syndrome", "description": "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0090111", "evidence": [ { "id": "0090111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090111" } ], "weight": 0.0 }, { "disease_id": "DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).", "url": "https://disease-ontology.org/term/DOID:0110152", "evidence": [ { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ], "weight": 0.0 }, { "disease_id": "DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0110157", "evidence": [ { "id": "0110157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110157" } ], "weight": 0.0 }, { "disease_id": "DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0110158", "evidence": [ { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ], "weight": 0.0 }, { "disease_id": "DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0110200", "evidence": [ { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" }, { "name": "cell aggregation", "id": "GO:0098743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098743", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" }, { "name": "cell-cell junction maintenance", "id": "GO:0045217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045217", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27573-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G59924QI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DGSIVIHNLDYSDNGTFTCDVK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine;Complex", "icn3d_view": {}, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "P27573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27573#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" }, { "database": "PubMed", "id": "7530295", "url": "https://glygen.org/publication/PubMed/7530295" }, { "database": "iPTMnet", "id": "P27573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Ser228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" }, { "database": "PubMed", "id": "7530295", "url": "https://glygen.org/publication/PubMed/7530295" }, { "database": "iPTMnet", "id": "P27573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" }, { "database": "PubMed", "id": "7530295", "url": "https://glygen.org/publication/PubMed/7530295" }, { "database": "iPTMnet", "id": "P27573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27573", "url": "https://www.uniprot.org/uniprotkb/P27573" }, { "database": "PubMed", "id": "7530295", "url": "https://glygen.org/publication/PubMed/7530295" }, { "database": "iPTMnet", "id": "P27573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27573" } ] } ] }, { "uniprot_canonical_ac": "P27573-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Thr124", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "1", "chr_pos": "170986458", "evidence": [ { "id": "rs3388510726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510726" } ] } ] } ], "record_id": "P27573-1" }, { "uniprot_canonical_ac": "F8VQB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2062, "chemical_mass": 237323.0, "gene_names": "Myo10;D15Ertd600e;Myo10;mKIAA0799;myosin-X", "protein_name": "Unconventional myosin-X", "disease": [], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytoskeleton-dependent intracellular transport", "id": "GO:0030705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030705", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "plus-end directed microfilament motor activity", "id": "GO:0060002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060002", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F8VQB6-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Thr1162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ] } ] }, { "uniprot_canonical_ac": "F8VQB6-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ] } ] }, { "uniprot_canonical_ac": "F8VQB6-1", "start_pos": "964", "end_pos": "964", "site_lbl": "Ser964", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ] } ] }, { "uniprot_canonical_ac": "F8VQB6-1", "start_pos": "967", "end_pos": "967", "site_lbl": "Ser967", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VQB6", "url": "https://www.uniprot.org/uniprotkb/F8VQB6" } ] } ] } ], "record_id": "F8VQB6-1" }, { "uniprot_canonical_ac": "P70365-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1447, "chemical_mass": 157016.0, "gene_names": "Ncoa1;KAT13A;NCoA-1;NRC-1;Ncoa1;SRC-1;SRC-a;SRC1;Src1;bHLHe74;mNRC-1", "protein_name": "Nuclear receptor coactivator 1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11633", "name": "thyroid hormone resistance syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:11633", "evidence": [ { "id": "11633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11633" } ], "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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "male mating behavior", "id": "GO:0060179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060179", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "positive regulation of adipose tissue development", "id": "GO:1904179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "regulation of thyroid hormone receptor signaling pathway", "id": "GO:0002155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002155", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "regulation of cellular response to insulin stimulus", "id": "GO:1900076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900076", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "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": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "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": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "positive regulation of transcription from RNA polymerase II promoter by galactose", "id": "GO:0000435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000435", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "positive regulation of female receptivity", "id": "GO:0045925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045925", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "cellular response to Thyroglobulin triiodothyronine", "id": "GO:1904017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904017", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "labyrinthine layer morphogenesis", "id": "GO:0060713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060713", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "progesterone receptor signaling pathway", "id": "GO:0050847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050847", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "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": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70365-1", "start_pos": "1007", "end_pos": "1007", "site_lbl": "Thr1007", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1007, "start_aa": "Thr", "end_pos": 1007, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1007", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "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": 389, "start_aa": "Ser", "end_pos": 389, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser389", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P70365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70365" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P70365", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Thr401", "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": 401, "start_aa": "Thr", "end_pos": 401, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr401", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P70365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70365" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P70365", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70365" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "12", "chr_pos": "4346145", "evidence": [ { "id": "rs213188127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213188127" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Thr642", "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": 642, "start_aa": "Thr", "end_pos": 642, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr642", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P70365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70365" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P70365", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Thr643", "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": 643, "start_aa": "Thr", "end_pos": 643, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr643", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P70365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70365" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P70365", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Thr644", "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": 644, "start_aa": "Thr", "end_pos": 644, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr644", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P70365", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70365" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "985", "end_pos": "985", "site_lbl": "Thr985", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 985, "start_aa": "Thr", "end_pos": 985, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr985", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "1039", "end_pos": "1039", "site_lbl": "Ser1039", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "1185", "end_pos": "1185", "site_lbl": "Thr1185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "1191", "end_pos": "1191", "site_lbl": "Ser1191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Ser1378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P70365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ser559", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Ser570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70365", "url": "https://www.uniprot.org/uniprotkb/P70365" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P70365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70365" } ] } ] }, { "uniprot_canonical_ac": "P70365-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Asn1333", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "12", "chr_pos": "4309297", "evidence": [ { "id": "rs244043438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244043438" } ] } ] } ], "record_id": "P70365-1" }, { "uniprot_canonical_ac": "P97479-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2215, "chemical_mass": 254939.0, "gene_names": "Myo7a;Hdb;Myo7a;Myo7;USH1B;nmf371;polka;sh-1;sh1", "protein_name": "Unconventional myosin-VIIa", "disease": [ { "disease_id": "DOID:0070655", "name": "Usher syndrome type 1B", "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0070655", "evidence": [ { "id": "0070655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070655" } ], "weight": 0.0 }, { "disease_id": "DOID:0110477", "name": "autosomal recessive nonsyndromic deafness 2", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110477", "evidence": [ { "id": "0110477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110477" } ], "weight": 0.0 }, { "disease_id": "DOID:0110543", "name": "autosomal dominant nonsyndromic deafness 11", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110543", "evidence": [ { "id": "0110543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110543" } ], "weight": 0.0 }, { "disease_id": "DOID:0110826", "name": "Usher syndrome type 1", "description": "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.", "url": "https://disease-ontology.org/term/DOID:0110826", "evidence": [ { "id": "0110826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110826" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:14791", "name": "Leber congenital amaurosis", "description": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.", "url": "https://disease-ontology.org/term/DOID:14791", "evidence": [ { "id": "14791", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14791" } ], "weight": 0.0 }, { "disease_id": "DOID:2742", "name": "auditory system disease", "description": "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.", "url": "https://disease-ontology.org/term/DOID:2742", "evidence": [ { "id": "2742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2742" } ], "weight": 0.0 }, { "disease_id": "DOID:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.", "url": "https://disease-ontology.org/term/DOID:9649", "evidence": [ { "id": "9649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ], "weight": 0.0 } ], "biological_process": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "pigment granule localization", "id": "GO:0051875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051875", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "pigment granule transport", "id": "GO:0051904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051904", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "sensory perception of light stimulus", "id": "GO:0050953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050953", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "equilibrioception", "id": "GO:0050957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050957", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "inner ear receptor cell stereocilium organization", "id": "GO:0060122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060122", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "phagolysosome assembly", "id": "GO:0001845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001845", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "sensory organ morphogenesis", "id": "GO:0090596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090596", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "myosin VII complex", "id": "GO:0031477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031477", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "upper tip-link density", "id": "GO:1990435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990435", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "stereocilium base", "id": "GO:0120044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120044", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "photoreceptor cell cilium", "id": "GO:0097733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097733", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" }, { "name": "plasma membrane bounded cell projection", "id": "GO:0120025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120025", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97479-1", "start_pos": "1563", "end_pos": "1563", "site_lbl": "Thr1563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97479", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97479" } ] } ] }, { "uniprot_canonical_ac": "P97479-1", "start_pos": "1569", "end_pos": "1569", "site_lbl": "Ser1569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97479", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97479" } ] } ] }, { "uniprot_canonical_ac": "P97479-1", "start_pos": "1571", "end_pos": "1571", "site_lbl": "Thr1571", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97479", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97479" } ] } ] }, { "uniprot_canonical_ac": "P97479-1", "start_pos": "1189", "end_pos": "1189", "site_lbl": "Ala1189", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Strongly reduced affinity for USH1G.", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" }, { "database": "PubMed", "id": "21311020", "url": "https://glygen.org/publication/PubMed/21311020" } ] } ] }, { "uniprot_canonical_ac": "P97479-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Phe1473", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "Q", "comment": "Reduced affinity for USH1G.", "evidence": [ { "database": "UniProtKB", "id": "P97479", "url": "https://www.uniprot.org/uniprotkb/P97479" }, { "database": "PubMed", "id": "21311020", "url": "https://glygen.org/publication/PubMed/21311020" } ] } ] } ], "record_id": "P97479-1" }, { "uniprot_canonical_ac": "Q8K1X4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1134, "chemical_mass": 128905.0, "gene_names": "Nckap1l;4930568P13Rik;Hem1;Hemp1;Nckap1l", "protein_name": "Nck-associated protein 1-like", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0112015", "name": "immunodeficiency 72", "description": "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.", "url": "https://disease-ontology.org/term/DOID:0112015", "evidence": [ { "id": "0112015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112015" } ], "weight": 0.0 } ], "biological_process": [ { "name": "actin polymerization-dependent cell motility", "id": "GO:0070358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070358", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "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": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "erythrocyte homeostasis", "id": "GO:0034101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034101", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "maintenance of cell polarity", "id": "GO:0030011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030011", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "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": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "negative regulation of cytotoxic T cell degranulation", "id": "GO:0043318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043318", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of CD8-positive, alpha-beta T cell differentiation", "id": "GO:0043378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043378", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of lymphocyte differentiation", "id": "GO:0045621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045621", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043372", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "positive regulation of neutrophil migration", "id": "GO:1902624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902624", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "TORC2 complex binding", "id": "GO:1904841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904841", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q8K1X4", "url": "https://www.uniprot.org/uniprotkb/Q8K1X4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K1X4-1" }, { "uniprot_canonical_ac": "Q00175-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 926, "chemical_mass": 98981.0, "gene_names": "Pgr;9930019P03Rik;NR3C3;Nr3c3;PR-A;PR-B;PR;Pgr;Pr", "protein_name": "Progesterone receptor", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:12700", "name": "hyperprolactinemia", "description": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.", "url": "https://disease-ontology.org/term/DOID:12700", "evidence": [ { "id": "12700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12700" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "female mating behavior", "id": "GO:0060180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060180", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "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": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "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": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "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": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "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": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "tertiary branching involved in mammary gland duct morphogenesis", "id": "GO:0060748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060748", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "maintenance of protein location in nucleus", "id": "GO:0051457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051457", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "epithelial cell maturation", "id": "GO:0002070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002070", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "nuclear receptor-mediated steroid hormone signaling pathway", "id": "GO:0030518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030518", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "ovulation from ovarian follicle", "id": "GO:0001542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001542", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "progesterone receptor signaling pathway", "id": "GO:0050847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050847", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "negative regulation of granulosa cell apoptotic process", "id": "GO:1904709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904709", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" } ], "molecular_function": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00175-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" }, { "database": "iPTMnet", "id": "Q00175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00175" }, { "database": "PubMed", "id": "16728408", "url": "https://glygen.org/publication/PubMed/16728408" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ser400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ser669", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] }, { "uniprot_canonical_ac": "Q00175-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00175", "url": "https://www.uniprot.org/uniprotkb/Q00175" } ] } ] } ], "record_id": "Q00175-1" }, { "uniprot_canonical_ac": "Q8BIW1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 454, "chemical_mass": 50239.0, "gene_names": "Prune1;9230112O05Rik;C130058A12;DRES-17;HTCD37;PRUNEM1;Prune-M1;Prune1;Prune", "protein_name": "Exopolyphosphatase PRUNE1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "inorganic diphosphate phosphatase activity", "id": "GO:0004427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004427", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "exopolyphosphatase activity", "id": "GO:0004309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004309", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BIW1-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Thr411", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 411, "start_aa": "Thr", "end_pos": 411, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr411", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIW1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIW1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIW1-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ser400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIW1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIW1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIW1-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BIW1", "url": "https://www.uniprot.org/uniprotkb/Q8BIW1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BIW1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BIW1" } ] } ] }, { "uniprot_canonical_ac": "Q8BIW1-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Leu416", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSL->NSC).", "chr_id": "3", "chr_pos": "95162425_95162426insCGCCTATG", "evidence": [ { "id": "rs3393332328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393332328" } ] } ] } ], "record_id": "Q8BIW1-1" }, { "uniprot_canonical_ac": "Q8CCF0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 499, "chemical_mass": 55430.0, "gene_names": "Prpf31;1500019O16Rik;2810404O06Rik;PRP31;Prp31;Prpf31;RP11", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "disease": [ { "disease_id": "DOID:0110408", "name": "retinitis pigmentosa 11", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110408", "evidence": [ { "id": "0110408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110408" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "U4 snRNA binding", "id": "GO:0030621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030621", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U4atac snRNA binding", "id": "GO:0030622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030622", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "snRNP binding", "id": "GO:0070990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070990", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U4atac snRNP", "id": "GO:0005690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005690", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "spliceosomal tri-snRNP complex", "id": "GO:0097526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097526", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal tri-snRNP complex assembly", "id": "GO:0000244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000244", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" }, { "name": "ribonucleoprotein complex localization", "id": "GO:0071166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071166", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asn76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70908NT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IEEYISKQANVSEVMGPVEAAPEYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 76, "start_aa": "Asn", "end_pos": 76, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn76", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "7", "chr_pos": "3633894", "evidence": [ { "id": "rs233959333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233959333" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Thr440", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8CCF0-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Thr455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CCF0", "url": "https://www.uniprot.org/uniprotkb/Q8CCF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CCF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CCF0" } ] } ] } ], "record_id": "Q8CCF0-1" }, { "uniprot_canonical_ac": "P48281-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 422, "chemical_mass": 47834.0, "gene_names": "Vdr;Nr1i1;Vdr", "protein_name": "Vitamin D3 receptor", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080883", "name": "vitamin D-dependent rickets", "description": "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.", "url": "https://disease-ontology.org/term/DOID:0080883", "evidence": [ { "id": "0080883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080883" } ], "weight": 0.0 }, { "disease_id": "DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.", "url": "https://disease-ontology.org/term/DOID:0080884", "evidence": [ { "id": "0080884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080884" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110276" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "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:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "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: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: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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "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: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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin D receptor signaling pathway", "id": "GO:0070561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070561", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "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": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "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": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "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": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "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": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in mammary gland involution", "id": "GO:0060058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060058", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "cell-cell junction maintenance", "id": "GO:0045217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045217", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of vitamin D receptor signaling pathway", "id": "GO:0070564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070564", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of bone trabecula formation", "id": "GO:1900155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900155", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "positive regulation of parathyroid hormone secretion", "id": "GO:2000830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000830", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "phosphate ion transmembrane transport", "id": "GO:0035435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035435", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "response to bile acid", "id": "GO:1903412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903412", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of phosphate transmembrane transport", "id": "GO:2000186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000186", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "vitamin D binding", "id": "GO:0005499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005499", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "bile acid nuclear receptor activity", "id": "GO:0038186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038186", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "calcitriol binding", "id": "GO:1902098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902098", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "lithocholic acid binding", "id": "GO:1902121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902121", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "vitamin D response element binding", "id": "GO:0070644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070644", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "dense fibrillar component", "id": "GO:0001651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001651", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P48281-1" }, { "uniprot_canonical_ac": "Q9WUQ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 417, "chemical_mass": 45437.0, "gene_names": "Preb;Preb;Sec12;mSec12", "protein_name": "Guanine nucleotide-exchange factor SEC12", "disease": [], "biological_process": [ { "name": "COPII-coated vesicle cargo loading", "id": "GO:0090110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090110", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "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": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "COPII vesicle coating", "id": "GO:0048208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048208", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "regulation of COPII vesicle coating", "id": "GO:0003400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003400", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ2", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WUQ2-1" }, { "uniprot_canonical_ac": "Q8CGT6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 848, "chemical_mass": 95773.0, "gene_names": "Piwil4;9230101H05Rik;Miwi2;Piwil4;mAgo5", "protein_name": "Piwi-like protein 4", "disease": [ { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "piP-body", "id": "GO:0071547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071547", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "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": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "transposable element silencing by mRNA destabilization", "id": "GO:0141008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141008", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "transposable element silencing by heterochromatin formation", "id": "GO:0141005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141005", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated DNA methylation", "id": "GO:0141196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141196", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "piRNA-mediated heterochromatin formation", "id": "GO:0140966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140966", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CGT6-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Asp688", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "In DAH mutant; does not lead to arrest in meiotic prophase and failure of transposon piRNA amplification.", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" }, { "database": "PubMed", "id": "22020280", "url": "https://glygen.org/publication/PubMed/22020280" } ] } ] } ], "record_id": "Q8CGT6-1" }, { "uniprot_canonical_ac": "B8JK39-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1036, "chemical_mass": 114416.0, "gene_names": "Itga9;(alpha)9;2610002H11Rik;6720458D17Rik;D130073C02;D9Ertd428e;Itga9", "protein_name": "Integrin alpha-9", "disease": [ { "disease_id": "DOID:0060646", "name": "congenital chylothorax", "description": "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.", "url": "https://disease-ontology.org/term/DOID:0060646", "evidence": [ { "id": "0060646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060646" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "integrin alpha9-beta1 complex", "id": "GO:0034679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034679", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "integrin binding involved in cell-matrix adhesion", "id": "GO:0098640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098640", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "B8JK39", "url": "https://www.uniprot.org/uniprotkb/B8JK39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asn226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLNLTDNTYFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "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" } ] }, { "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": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "B8JK39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B8JK39#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Thr253", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 253, "start_aa": "Thr", "end_pos": 253, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr253", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Asn494", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "B8JK39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B8JK39#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Asn515", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVPGEIGLNYNLTADVAQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "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" } ] }, { "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": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "B8JK39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B8JK39#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Asn613", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQTVFER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 613, "start_aa": "Asn", "end_pos": 613, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn613", "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": "B8JK39-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Asn808", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 808, "start_aa": "Asn", "end_pos": 808, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn808", "evidence": [ { "id": "B8JK39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B8JK39#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Asn855", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95177YH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNCSLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 855, "start_aa": "Asn", "end_pos": 855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn855", "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": "B8JK39-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Asn905", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLDCEKPGSFCLTLHCNLSALPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 905, "start_aa": "Asn", "end_pos": 905, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn905", "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": "B8JK39-1", "start_pos": "256", "end_pos": "256", "site_lbl": "His256", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HFS->NFS).", "chr_id": "9", "chr_pos": "118490436", "evidence": [ { "id": "rs3412942511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412942511" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Lys410", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "9", "chr_pos": "118501963", "evidence": [ { "id": "rs3389080975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389080975" } ] } ] }, { "uniprot_canonical_ac": "B8JK39-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Ser914", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "9", "chr_pos": "118700959", "evidence": [ { "id": "rs3389082553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389082553" } ] } ] } ], "record_id": "B8JK39-1" }, { "uniprot_canonical_ac": "Q8VBX6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2055, "chemical_mass": 218711.0, "gene_names": "Mpdz;B930003D11Rik;MUPP1;Mpdz;Mupp1", "protein_name": "Multiple PDZ domain protein", "disease": [ { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "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": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "Schmidt-Lanterman incisure", "id": "GO:0043220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043220", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "subapical complex", "id": "GO:0035003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035003", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" } ], "biological_process": [ { "name": "tight junction assembly", "id": "GO:0120192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120192", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1371", "end_pos": "1371", "site_lbl": "Thr1371", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1371, "start_aa": "Thr", "end_pos": 1371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1371", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1824", "end_pos": "1824", "site_lbl": "Asn1824", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RPSQSSQVSESSLSSFTPPLSGINTSESLESNSKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1824, "start_aa": "Asn", "end_pos": 1824, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1824", "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": "Q8VBX6-1", "start_pos": "918", "end_pos": "918", "site_lbl": "Thr918", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 918, "start_aa": "Thr", "end_pos": 918, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr918", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Ser1066", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1803", "end_pos": "1803", "site_lbl": "Ser1803", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1809", "end_pos": "1809", "site_lbl": "Ser1809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Ser783", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VBX6", "url": "https://www.uniprot.org/uniprotkb/Q8VBX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "1767", "end_pos": "1767", "site_lbl": "His1767", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HAT->NAT).", "chr_id": "4", "chr_pos": "81208503", "evidence": [ { "id": "rs6359693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6359693" } ] } ] }, { "uniprot_canonical_ac": "Q8VBX6-1", "start_pos": "880", "end_pos": "880", "site_lbl": "Ser880", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "4", "chr_pos": "81267504", "evidence": [ { "id": "rs28072746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28072746" } ] } ] } ], "record_id": "Q8VBX6-1" }, { "uniprot_canonical_ac": "Q8BRH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4903, "chemical_mass": 540187.0, "gene_names": "Kmt2c;Mll3", "protein_name": "Histone-lysine N-methyltransferase 2C", "disease": [ { "disease_id": "DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0080202", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ], "weight": 0.0 }, { "disease_id": "DOID:0080598", "name": "Kleefstra syndrome 2", "description": "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0080598", "evidence": [ { "id": "0080598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080598" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:2600", "name": "laryngeal carcinoma", "description": "A larynx cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2600", "evidence": [ { "id": "2600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2600" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "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: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: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: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "histone H3K4 monomethyltransferase activity", "id": "GO:0140945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140945", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "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": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1453", "end_pos": "1453", "site_lbl": "Thr1453", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1453, "start_aa": "Thr", "end_pos": 1453, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1453", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Thr156", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 156, "start_aa": "Thr", "end_pos": 156, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr156", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DIDDNSSGTCEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "5", "chr_pos": "25614195", "evidence": [ { "id": "rs29731144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29731144" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1833", "end_pos": "1833", "site_lbl": "Thr1833", "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": 1833, "start_aa": "Thr", "end_pos": 1833, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1833", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8BRH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BRH4" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BRH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1836", "end_pos": "1836", "site_lbl": "Ser1836", "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": 1836, "start_aa": "Ser", "end_pos": 1836, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1836", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8BRH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BRH4" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BRH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1837", "end_pos": "1837", "site_lbl": "Thr1837", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1837, "start_aa": "Thr", "end_pos": 1837, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1837", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1854", "end_pos": "1854", "site_lbl": "Thr1854", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1854, "start_aa": "Thr", "end_pos": 1854, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1854", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "2298", "end_pos": "2298", "site_lbl": "Thr2298", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2298, "start_aa": "Thr", "end_pos": 2298, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2298", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "2354", "end_pos": "2354", "site_lbl": "Thr2354", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2354, "start_aa": "Thr", "end_pos": 2354, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2354", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "3439", "end_pos": "3439", "site_lbl": "Asn3439", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MEMEQHCLMGAELANR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3439, "start_aa": "Asn", "end_pos": 3439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3439", "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": "Q8BRH4-1", "start_pos": "3708", "end_pos": "3708", "site_lbl": "Asn3708", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSVETPNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3708, "start_aa": "Asn", "end_pos": 3708, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3708", "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": "Q8BRH4-1", "start_pos": "3746", "end_pos": "3746", "site_lbl": "Ser3746", "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": 3746, "start_aa": "Ser", "end_pos": 3746, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser3746", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8BRH4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BRH4" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BRH4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "3892", "end_pos": "3892", "site_lbl": "Thr3892", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3892, "start_aa": "Thr", "end_pos": 3892, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3892", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "3900", "end_pos": "3900", "site_lbl": "Thr3900", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3900, "start_aa": "Thr", "end_pos": 3900, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3900", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "3970", "end_pos": "3970", "site_lbl": "Thr3970", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3970, "start_aa": "Thr", "end_pos": 3970, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3970", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1294", "end_pos": "1294", "site_lbl": "Ser1294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "1983", "end_pos": "1983", "site_lbl": "Ser1983", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "2822", "end_pos": "2822", "site_lbl": "Ser2822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "2824", "end_pos": "2824", "site_lbl": "Tyr2824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BRH4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "4027", "end_pos": "4027", "site_lbl": "Ser4027", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "4260", "end_pos": "4260", "site_lbl": "Ser4260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Ser847", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] }, { "uniprot_canonical_ac": "Q8BRH4-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BRH4", "url": "https://www.uniprot.org/uniprotkb/Q8BRH4" } ] } ] } ], "record_id": "Q8BRH4-1" }, { "uniprot_canonical_ac": "Q9D8M7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 497, "chemical_mass": 55840.0, "gene_names": "Phf10;1810055P05Rik;Baf45a;Phf10", "protein_name": "PHD finger protein 10", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.", "url": "https://disease-ontology.org/term/DOID:1925", "evidence": [ { "id": "1925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1925" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "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": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "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": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Thr483", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 483, "start_aa": "Thr", "end_pos": 483, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr483", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D8M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ] } ] }, { "uniprot_canonical_ac": "Q9D8M7-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8M7", "url": "https://www.uniprot.org/uniprotkb/Q9D8M7" } ] } ] } ], "record_id": "Q9D8M7-1" }, { "uniprot_canonical_ac": "Q6PF93-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 887, "chemical_mass": 101487.0, "gene_names": "Pik3c3;5330434F23Rik;Pik3c3;Vps34", "protein_name": "Phosphatidylinositol 3-kinase catalytic subunit type 3", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate biosynthetic process", "id": "GO:0036092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036092", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "host-mediated activation of viral genome replication", "id": "GO:0044829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044829", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol-mediated signaling", "id": "GO:0048015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "protein targeting to lysosome", "id": "GO:0006622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006622", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "response to L-leucine", "id": "GO:0043201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043201", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "positive regulation of protein lipidation", "id": "GO:1903061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903061", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "pexophagy", "id": "GO:0000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000425", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "presynaptic endosome", "id": "GO:0098830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098830", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III, type I", "id": "GO:0034271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034271", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III, type II", "id": "GO:0034272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034272", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III", "id": "GO:0035032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035032", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "postsynaptic endosome", "id": "GO:0098845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098845", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-3-kinase activity", "id": "GO:0016303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016303", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" }, { "name": "phosphatidylinositol kinase activity", "id": "GO:0052742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052742", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PF93-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asn205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LTFREIEMINESEKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "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": "Q6PF93-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Asn289", "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": "SGPSDHDLKPNATTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 289, "start_aa": "Asn", "end_pos": 289, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn289", "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": "Q6PF93-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Thr163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" }, { "database": "iPTMnet", "id": "Q6PF93", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PF93" }, { "database": "PubMed", "id": "23332761", "url": "https://glygen.org/publication/PubMed/23332761" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of phosphorylation but no loss of autophagic function; when associated with A-165.", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" }, { "database": "PubMed", "id": "23332761", "url": "https://glygen.org/publication/PubMed/23332761" } ] } ] }, { "uniprot_canonical_ac": "Q6PF93-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" }, { "database": "iPTMnet", "id": "Q6PF93", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PF93" }, { "database": "PubMed", "id": "23332761", "url": "https://glygen.org/publication/PubMed/23332761" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation but no loss of autophagic function; when associated with A-163.", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" }, { "database": "PubMed", "id": "23332761", "url": "https://glygen.org/publication/PubMed/23332761" } ] } ] }, { "uniprot_canonical_ac": "Q6PF93-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ] } ] }, { "uniprot_canonical_ac": "Q6PF93-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ser261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ] } ] }, { "uniprot_canonical_ac": "Q6PF93-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PF93", "url": "https://www.uniprot.org/uniprotkb/Q6PF93" } ] } ] } ], "record_id": "Q6PF93-1" }, { "uniprot_canonical_ac": "Q9QXS1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4691, "chemical_mass": 534188.0, "gene_names": "Plec;EBS1;PCN;PLTN;Plec1;Plec", "protein_name": "Plectin", "disease": [ { "disease_id": "DOID:0060736", "name": "epidermolysis bullosa simplex 5A Ogna type", "description": "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0060736", "evidence": [ { "id": "0060736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060736" } ], "weight": 0.0 }, { "disease_id": "DOID:0090017", "name": "epidermolysis bullosa simplex with muscular dystrophy", "description": "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0090017", "evidence": [ { "id": "0090017", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090017" } ], "weight": 0.0 }, { "disease_id": "DOID:0110285", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Q", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.", "url": "https://disease-ontology.org/term/DOID:0110285", "evidence": [ { "id": "0110285", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110285" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal myofibril assembly", "id": "GO:0014866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014866", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "leukocyte migration involved in immune response", "id": "GO:0002522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002522", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "hemidesmosome assembly", "id": "GO:0031581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031581", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cellular response to hydrostatic pressure", "id": "GO:0071464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071464", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "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": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "actomyosin contractile ring assembly actin filament organization", "id": "GO:2000689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000689", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "regulation of ATP citrate synthase activity", "id": "GO:2000983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000983", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "tight junction organization", "id": "GO:0120193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120193", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "protein-containing complex organization", "id": "GO:0043933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043933", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "dystroglycan binding", "id": "GO:0002162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002162", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2761", "end_pos": "2761", "site_lbl": "Thr2761", "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": 2761, "start_aa": "Thr", "end_pos": 2761, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2761", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q9QXS1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QXS1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9QXS1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2762", "end_pos": "2762", "site_lbl": "Thr2762", "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": 2762, "start_aa": "Thr", "end_pos": 2762, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2762", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q9QXS1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QXS1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QXS1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXS1" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4092", "end_pos": "4092", "site_lbl": "Ser4092", "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": 4092, "start_aa": "Ser", "end_pos": 4092, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser4092", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9QXS1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXS1" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "15", "chr_pos": "76057256", "evidence": [ { "id": "rs3389362048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362048" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4449", "end_pos": "4449", "site_lbl": "Asn4449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G16125XL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VSITEAMHRNLVDNITGQRLLEAQACTGGIIDPSTGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4449, "start_aa": "Asn", "end_pos": 4449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4449", "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": "Q9QXS1-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Thr649", "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": 649, "start_aa": "Thr", "end_pos": 649, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr649", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q9QXS1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QXS1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QXS1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "751", "end_pos": "751", "site_lbl": "Asn751", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLNSSKARLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 751, "start_aa": "Asn", "end_pos": 751, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn751", "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": "Q9QXS1-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Ser1055", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "1443", "end_pos": "1443", "site_lbl": "Ser1443", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "1729", "end_pos": "1729", "site_lbl": "Ser1729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2639", "end_pos": "2639", "site_lbl": "Ser2639", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2781", "end_pos": "2781", "site_lbl": "Ser2781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2788", "end_pos": "2788", "site_lbl": "Tyr2788", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2809", "end_pos": "2809", "site_lbl": "Ser2809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "2893", "end_pos": "2893", "site_lbl": "Thr2893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "3040", "end_pos": "3040", "site_lbl": "Tyr3040", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "3369", "end_pos": "3369", "site_lbl": "Tyr3369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "3792", "end_pos": "3792", "site_lbl": "Thr3792", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "3797", "end_pos": "3797", "site_lbl": "Tyr3797", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4037", "end_pos": "4037", "site_lbl": "Thr4037", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4061", "end_pos": "4061", "site_lbl": "Ser4061", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4389", "end_pos": "4389", "site_lbl": "Ser4389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4391", "end_pos": "4391", "site_lbl": "Ser4391", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4392", "end_pos": "4392", "site_lbl": "Ser4392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4393", "end_pos": "4393", "site_lbl": "Ser4393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4396", "end_pos": "4396", "site_lbl": "Ser4396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4397", "end_pos": "4397", "site_lbl": "Ser4397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4398", "end_pos": "4398", "site_lbl": "Ser4398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4399", "end_pos": "4399", "site_lbl": "Ser4399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4400", "end_pos": "4400", "site_lbl": "Tyr4400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4403", "end_pos": "4403", "site_lbl": "Ser4403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4413", "end_pos": "4413", "site_lbl": "Ser4413", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4418", "end_pos": "4418", "site_lbl": "Thr4418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4546", "end_pos": "4546", "site_lbl": "Thr4546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4614", "end_pos": "4614", "site_lbl": "Ser4614", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4620", "end_pos": "4620", "site_lbl": "Ser4620", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4622", "end_pos": "4622", "site_lbl": "Tyr4622", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4623", "end_pos": "4623", "site_lbl": "Ser4623", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4625", "end_pos": "4625", "site_lbl": "Ser4625", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4629", "end_pos": "4629", "site_lbl": "Ser4629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4630", "end_pos": "4630", "site_lbl": "Thr4630", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4633", "end_pos": "4633", "site_lbl": "Ser4633", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "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": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4649", "end_pos": "4649", "site_lbl": "Ser4649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "4682", "end_pos": "4682", "site_lbl": "Ser4682", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] }, { "uniprot_canonical_ac": "Q9QXS1-1", "start_pos": "823", "end_pos": "823", "site_lbl": "Thr823", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXS1", "url": "https://www.uniprot.org/uniprotkb/Q9QXS1" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "iPTMnet", "id": "Q9QXS1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXS1" } ] } ] } ], "record_id": "Q9QXS1-1" }, { "uniprot_canonical_ac": "Q61025-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 132, "chemical_mass": 15237.0, "gene_names": "Ift20;0610009H04Rik;Ift20;mIFT20", "protein_name": "Intraflagellar transport protein 20 homolog", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "dendrite terminus", "id": "GO:0044292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044292", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "intraciliary transport particle", "id": "GO:0030990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030990", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "kinociliary basal body", "id": "GO:1902636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902636", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "intraciliary anterograde transport", "id": "GO:0035720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "opsin transport", "id": "GO:0036372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036372", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "inner ear receptor cell stereocilium organization", "id": "GO:0060122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060122", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "protein transmembrane transport", "id": "GO:0071806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071806", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "regulation of platelet-derived growth factor receptor-alpha signaling pathway", "id": "GO:2000583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000583", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" }, { "name": "opsin binding", "id": "GO:0002046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002046", "evidence": [ { "database": "UniProtKB", "id": "Q61025", "url": "https://www.uniprot.org/uniprotkb/Q61025" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61025-1" }, { "uniprot_canonical_ac": "Q66T02-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1073, "chemical_mass": 118924.0, "gene_names": "Plekhg5;Kiaa0720;Plekhg5;Syx", "protein_name": "Pleckstrin homology domain-containing family G member 5", "disease": [ { "disease_id": "DOID:0110198", "name": "Charcot-Marie-Tooth disease recessive intermediate C", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110198", "evidence": [ { "id": "0110198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110198" } ], "weight": 0.0 }, { "disease_id": "DOID:0111213", "name": "autosomal recessive distal hereditary motor neuronopathy 4", "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.", "url": "https://disease-ontology.org/term/DOID:0111213", "evidence": [ { "id": "0111213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111213" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "regulation protein catabolic process at presynapse", "id": "GO:0140251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140251", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Thr534", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 534, "start_aa": "Thr", "end_pos": 534, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr534", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Thr793", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Ser798", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Ser806", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" }, { "database": "PubMed", "id": "23253477", "url": "https://glygen.org/publication/PubMed/23253477" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "909", "end_pos": "909", "site_lbl": "Thr909", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Ser911", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Ser936", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] }, { "uniprot_canonical_ac": "Q66T02-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Ser941", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprotkb/Q66T02" }, { "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": "Q66T02", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66T02" } ] } ] } ], "record_id": "Q66T02-1" }, { "uniprot_canonical_ac": "Q9DBP5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 22165.0, "gene_names": "Cmpk1;0610011D08Rik;CK;CMPK1;CMPK;Cmk;Cmpk1;Cmpk;UMP-CMPk;Uck;Umk;Umpk", "protein_name": "UMP-CMP kinase", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nucleoside monophosphate kinase activity", "id": "GO:0050145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050145", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "nucleoside diphosphate kinase activity", "id": "GO:0004550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004550", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "UMP kinase activity", "id": "GO:0033862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033862", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "CMP kinase activity", "id": "GO:0036430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036430", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "dCMP kinase activity", "id": "GO:0036431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036431", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "dUMP kinase activity", "id": "GO:0120136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120136", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "AMP kinase activity", "id": "GO:0004017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004017", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "dAMP kinase activity", "id": "GO:0047506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047506", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" } ], "biological_process": [ { "name": "'de novo' pyrimidine nucleobase biosynthetic process", "id": "GO:0006207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006207", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "dUDP biosynthetic process", "id": "GO:0006227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006227", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "UDP biosynthetic process", "id": "GO:0006225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006225", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "dCDP biosynthetic process", "id": "GO:0006240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006240", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" }, { "name": "CDP biosynthetic process", "id": "GO:0046705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046705", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBP5-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ] } ] }, { "uniprot_canonical_ac": "Q9DBP5-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBP5", "url": "https://www.uniprot.org/uniprotkb/Q9DBP5" } ] } ] } ], "record_id": "Q9DBP5-1" }, { "uniprot_canonical_ac": "Q8BJ56-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 486, "chemical_mass": 53657.0, "gene_names": "Pnpla2;0610039C21Rik;1110001C14Rik;Atgl;Pnpla2;TTS-2.2", "protein_name": "Patatin-like phospholipase domain-containing protein 2", "disease": [ { "disease_id": "DOID:0050729", "name": "Chanarin-Dorfman syndrome", "description": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.", "url": "https://disease-ontology.org/term/DOID:0050729", "evidence": [ { "id": "0050729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050729" } ], "weight": 0.0 }, { "disease_id": "DOID:0060158", "name": "acquired metabolic disease", "description": "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.", "url": "https://disease-ontology.org/term/DOID:0060158", "evidence": [ { "id": "0060158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060158" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "negative regulation of triglyceride storage", "id": "GO:0010891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010891", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "diacylglycerol biosynthetic process", "id": "GO:0006651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006651", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "intracellular triglyceride homeostasis", "id": "GO:0035356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035356", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid droplet disassembly", "id": "GO:1905691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905691", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid droplet fusion", "id": "GO:0160077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160077", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "acylglycerol O-acyltransferase activity", "id": "GO:0016411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016411", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "retinyl-palmitate esterase activity", "id": "GO:0050253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050253", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "mono-olein transacylation activity", "id": "GO:0051264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051264", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "diolein transacylation activity", "id": "GO:0051265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051265", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asn209", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VTNTSIQFNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 209, "start_aa": "Asn", "end_pos": 209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn209", "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": "Q8BJ56-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNLSLGDALAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 428, "start_aa": "Asn", "end_pos": 428, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn428", "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": "Q8BJ56-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Thr470", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 470, "start_aa": "Thr", "end_pos": 470, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr470", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "iPTMnet", "id": "Q8BJ56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ56" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "iPTMnet", "id": "Q8BJ56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ56" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly reduced TG hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Ser406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "iPTMnet", "id": "Q8BJ56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ56" }, { "database": "PubMed", "id": "21641555", "url": "https://glygen.org/publication/PubMed/21641555" }, { "database": "PubMed", "id": "22713505", "url": "https://glygen.org/publication/PubMed/22713505" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" }, { "database": "PubMed", "id": "25879679", "url": "https://glygen.org/publication/PubMed/25879679" }, { "database": "PubMed", "id": "33376578", "url": "https://glygen.org/publication/PubMed/33376578" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced TG hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "iPTMnet", "id": "Q8BJ56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ56" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Ser468", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "iPTMnet", "id": "Q8BJ56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ56" }, { "database": "PubMed", "id": "22733971", "url": "https://glygen.org/publication/PubMed/22733971" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Thr41", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->NAN).", "chr_id": "7", "chr_pos": "141035321", "evidence": [ { "id": "rs3388955173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388955173" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ56-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of triacylglycerol hydrolysis activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ56", "url": "https://www.uniprot.org/uniprotkb/Q8BJ56" }, { "database": "PubMed", "id": "16679289", "url": "https://glygen.org/publication/PubMed/16679289" } ] } ] } ], "record_id": "Q8BJ56-1" }, { "uniprot_canonical_ac": "O88898-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 680, "chemical_mass": 76789.0, "gene_names": "Tp63;Trp63;Ket;P51/P63;P63;P73l;Tp63;Tp73l;Trp53rp1;Trp63", "protein_name": "Tumor protein 63", "disease": [ { "disease_id": "DOID:0050601", "name": "ADULT syndrome", "description": "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0050601", "evidence": [ { "id": "0050601", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050601" } ], "weight": 0.0 }, { "disease_id": "DOID:0060330", "name": "Rapp-Hodgkin syndrome", "description": "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.", "url": "https://disease-ontology.org/term/DOID:0060330", "evidence": [ { "id": "0060330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060330" } ], "weight": 0.0 }, { "disease_id": "DOID:0060782", "name": "EEC syndrome", "description": "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).", "url": "https://disease-ontology.org/term/DOID:0060782", "evidence": [ { "id": "0060782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060782" } ], "weight": 0.0 }, { "disease_id": "DOID:0060783", "name": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "description": "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0060783", "evidence": [ { "id": "0060783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060783" } ], "weight": 0.0 }, { "disease_id": "DOID:0080173", "name": "bladder exstrophy-epispadias-cloacal exstrophy complex", "description": "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.", "url": "https://disease-ontology.org/term/DOID:0080173", "evidence": [ { "id": "0080173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080173" } ], "weight": 0.0 }, { "disease_id": "DOID:0080174", "name": "bladder exstrophy", "description": "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.", "url": "https://disease-ontology.org/term/DOID:0080174", "evidence": [ { "id": "0080174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080174" } ], "weight": 0.0 }, { "disease_id": "DOID:0080401", "name": "orofacial cleft 8", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080401", "evidence": [ { "id": "0080401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080401" } ], "weight": 0.0 }, { "disease_id": "DOID:0090023", "name": "split hand-foot malformation 4", "description": "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0090023", "evidence": [ { "id": "0090023", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090023" } ], "weight": 0.0 }, { "disease_id": "DOID:0090119", "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "description": "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.", "url": "https://disease-ontology.org/term/DOID:0090119", "evidence": [ { "id": "0090119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090119" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.", "url": "https://disease-ontology.org/term/DOID:2121", "evidence": [ { "id": "2121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2121" } ], "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:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 }, { "disease_id": "DOID:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of keratinocyte differentiation", "id": "GO:0045617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045617", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "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": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "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": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "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": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "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": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "regulation of epidermal cell division", "id": "GO:0010482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010482", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "positive regulation of fibroblast apoptotic process", "id": "GO:2000271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000271", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "epithelial cell development", "id": "GO:0002064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002064", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "negative regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033147", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "keratinocyte proliferation", "id": "GO:0043616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043616", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "positive regulation of somatic stem cell population maintenance", "id": "GO:1904674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904674", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "WW domain binding", "id": "GO:0050699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050699", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "MDM2/MDM4 family protein binding", "id": "GO:0097371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88898-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Thr545", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 545, "start_aa": "Thr", "end_pos": 545, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr545", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88898-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Tyr543", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with WWP1.", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" }, { "database": "PubMed", "id": "18806757", "url": "https://glygen.org/publication/PubMed/18806757" } ] } ] }, { "uniprot_canonical_ac": "O88898-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Arg647", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Heterozygous mutant mice have reduced fertility, reduced ovary size and accelerated oocyte loss via apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "O88898", "url": "https://www.uniprot.org/uniprotkb/O88898" }, { "database": "PubMed", "id": "36856110", "url": "https://glygen.org/publication/PubMed/36856110" } ] } ] } ], "record_id": "O88898-1" }, { "uniprot_canonical_ac": "Q9R0L9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 197, "chemical_mass": 21059.0, "gene_names": "Cd164;A115;A24;Cd164;MGC-24;MSSP", "protein_name": "Sialomucin core protein 24", "disease": [ { "disease_id": "DOID:0110587", "name": "autosomal dominant nonsyndromic deafness 66", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0110587", "evidence": [ { "id": "0110587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110587" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TYCANEPLSNCSQVNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "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" } ] }, { "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": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TDLCSVIPPTTPVPTNSTAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "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" } ] }, { "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": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 133, "start_aa": "Thr", "end_pos": 133, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr133", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 135, "start_aa": "Thr", "end_pos": 135, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr135", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSSPTPTPSVVTSAGTTNTTLTPTSQPER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "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" } ] }, { "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Asn26", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 26, "start_aa": "Asn", "end_pos": 26, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn26", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Asn33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 33, "start_aa": "Asn", "end_pos": 33, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn33", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asn69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Asn75", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 75, "start_aa": "Asn", "end_pos": 75, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "10", "chr_pos": "41397971", "evidence": [ { "id": "rs3547940239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547940239" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TYCANEPLSNCSQVNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "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" } ] }, { "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": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "Q9R0L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Asn193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "G", "comment": "Increased targeting to the endosomal/lysosomal compartment and reduced myotube formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" }, { "database": "PubMed", "id": "18227060", "url": "https://glygen.org/publication/PubMed/18227060" } ] } ] }, { "uniprot_canonical_ac": "Q9R0L9-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Tyr194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Inefficient targeting to the endosomal/lysosomal compartment and enhanced myotube formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0L9", "url": "https://www.uniprot.org/uniprotkb/Q9R0L9" }, { "database": "PubMed", "id": "18227060", "url": "https://glygen.org/publication/PubMed/18227060" } ] } ] } ], "record_id": "Q9R0L9-1" }, { "uniprot_canonical_ac": "Q9JJW5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 264, "chemical_mass": 29762.0, "gene_names": "Myoz2;1110012I24Rik;Fatz-2;Myoz2;Myozl2", "protein_name": "Myozenin-2", "disease": [ { "disease_id": "DOID:0110322", "name": "hypertrophic cardiomyopathy 16", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.", "url": "https://disease-ontology.org/term/DOID:0110322", "evidence": [ { "id": "0110322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110322" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "skeletal muscle fiber adaptation", "id": "GO:0043503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043503", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "negative regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070885", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "FATZ binding", "id": "GO:0051373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051373", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "telethonin binding", "id": "GO:0031433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031433", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJW5-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJW5" } ] } ] }, { "uniprot_canonical_ac": "Q9JJW5-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJW5" } ] } ] }, { "uniprot_canonical_ac": "Q9JJW5-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Thr111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" }, { "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": "Q9JJW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJW5" } ] } ] }, { "uniprot_canonical_ac": "Q9JJW5-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJW5", "url": "https://www.uniprot.org/uniprotkb/Q9JJW5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJW5" } ] } ] } ], "record_id": "Q9JJW5-1" }, { "uniprot_canonical_ac": "O70468-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1270, "chemical_mass": 140632.0, "gene_names": "Mybpc3", "protein_name": "Myosin-binding protein C, cardiac-type", "disease": [ { "disease_id": "DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.", "url": "https://disease-ontology.org/term/DOID:0080326", "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ], "weight": 0.0 }, { "disease_id": "DOID:0081158", "name": "dilated cardiomyopathy 1MM", "description": "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:0081158", "evidence": [ { "id": "0081158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081158" } ], "weight": 0.0 }, { "disease_id": "DOID:0110310", "name": "hypertrophic cardiomyopathy 4", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:0110310", "evidence": [ { "id": "0110310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110310" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 } ], "biological_process": [ { "name": "myosin filament assembly", "id": "GO:0031034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031034", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "myosin heavy chain binding", "id": "GO:0032036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032036", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "striated muscle myosin thick filament", "id": "GO:0005863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005863", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70468-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Thr676", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 676, "start_aa": "Thr", "end_pos": 676, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr676", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "954", "end_pos": "954", "site_lbl": "Thr954", "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": 954, "start_aa": "Thr", "end_pos": 954, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr954", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "O70468", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70468" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" }, { "database": "PubMed", "id": "19541641", "url": "https://glygen.org/publication/PubMed/19541641" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" }, { "database": "PubMed", "id": "19541641", "url": "https://glygen.org/publication/PubMed/19541641" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" }, { "database": "PubMed", "id": "19541641", "url": "https://glygen.org/publication/PubMed/19541641" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Thr603", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" } ] } ] }, { "uniprot_canonical_ac": "O70468-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70468", "url": "https://www.uniprot.org/uniprotkb/O70468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70468" } ] } ] } ], "record_id": "O70468-1" }, { "uniprot_canonical_ac": "Q8R4E4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 26982.0, "gene_names": "Myoz3;4833419K08Rik;Fatz-3;Myoz3", "protein_name": "Myozenin-3", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "pmid": "" }, { "name": "FATZ binding", "id": "GO:0051373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051373", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "pmid": "" }, { "name": "telethonin binding", "id": "GO:0031433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031433", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R4E4-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R4E4", "url": "https://www.uniprot.org/uniprotkb/Q8R4E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R4E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R4E4" } ] } ] } ], "record_id": "Q8R4E4-1" }, { "uniprot_canonical_ac": "Q9JK81-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 380, "chemical_mass": 42723.0, "gene_names": "Myg1;0610023A07Rik;2810433J21Rik;5830429P19Rik;Gamm1;Myg1", "protein_name": "MYG1 exonuclease", "disease": [ { "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 } ], "biological_process": [ { "name": "mitochondrial RNA metabolic process", "id": "GO:0000959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000959", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" } ], "molecular_function": [ { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q9JK81", "url": "https://www.uniprot.org/uniprotkb/Q9JK81" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JK81-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGTHNGTFHCDEALACALLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "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" } ] } ] } ], "record_id": "Q9JK81-1" }, { "uniprot_canonical_ac": "P01108-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 454, "chemical_mass": 50678.0, "gene_names": "Myc;Myc2;Myc;Niard;Nird;bHLHe39", "protein_name": "Myc proto-oncogene protein", "disease": [ { "disease_id": "DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.", "url": "https://disease-ontology.org/term/DOID:0001816", "evidence": [ { "id": "0001816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0001816" } ], "weight": 0.0 }, { "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" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0110858", "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "https://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13543", "name": "hyperparathyroidism", "description": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.", "url": "https://disease-ontology.org/term/DOID:13543", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "weight": 0.0 }, { "disease_id": "DOID:3672", "name": "rhabdoid cancer", "description": "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.", "url": "https://disease-ontology.org/term/DOID:3672", "evidence": [ { "id": "3672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3672" } ], "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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "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: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8584" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "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 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to alkaloid", "id": "GO:0043279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043279", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of telomere maintenance", "id": "GO:0032204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032204", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "cellular response to interferon-alpha", "id": "GO:0035457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035457", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell apoptotic process", "id": "GO:1904036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904036", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of B cell apoptotic process", "id": "GO:0002904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002904", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of cell division", "id": "GO:0051782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051782", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of monocyte differentiation", "id": "GO:0045656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045656", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of oxidative phosphorylation", "id": "GO:1903862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903862", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "protein-DNA complex disassembly", "id": "GO:0032986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032986", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of metanephric cap mesenchymal cell proliferation", "id": "GO:0090096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090096", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "rRNA metabolic process", "id": "GO:0016072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016072", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902255", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of transcription initiation by RNA polymerase II", "id": "GO:0060633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060633", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of gene expression via chromosomal CpG island methylation", "id": "GO:0044027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044027", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "NK T cell proliferation", "id": "GO:0001866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001866", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "inner mitochondrial membrane organization", "id": "GO:0007007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "pyruvate transport", "id": "GO:0006848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006848", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "lactic acid secretion", "id": "GO:0046722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046722", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of somatic stem cell population maintenance", "id": "GO:1904672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904672", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex binding", "id": "GO:1905761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905761", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "RNA polymerase II transcription repressor complex", "id": "GO:0090571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090571", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "Myc-Max complex", "id": "GO:0071943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071943", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01108-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Thr73", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 73, "start_aa": "Thr", "end_pos": 73, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr73", "evidence": [ { "id": "P01108", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01108#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859543", "evidence": [ { "id": "rs3389367569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367569" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect interaction with TRIM6.", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" }, { "database": "PubMed", "id": "22328504", "url": "https://glygen.org/publication/PubMed/22328504" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ser175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" }, { "database": "iPTMnet", "id": "P01108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01108" }, { "database": "PubMed", "id": "18438430", "url": "https://glygen.org/publication/PubMed/18438430" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces phosphorylation by PIM2 by 60%, and decreases the transcriptional activity of MYC.", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" }, { "database": "PubMed", "id": "18438430", "url": "https://glygen.org/publication/PubMed/18438430" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect interaction with TRIM6.", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" }, { "database": "PubMed", "id": "22328504", "url": "https://glygen.org/publication/PubMed/22328504" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859654", "evidence": [ { "id": "rs3389323921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389323921" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859360", "evidence": [ { "id": "rs3389282404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282404" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Thr14", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859366", "evidence": [ { "id": "rs3389357017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357017" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ala156", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859795", "evidence": [ { "id": "rs3389314215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389314215" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ala157", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859795", "evidence": [ { "id": "rs3389314215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389314215" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ala170", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859836", "evidence": [ { "id": "rs3389355927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355927" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ala171", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859836", "evidence": [ { "id": "rs3389355927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355927" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "184", "end_pos": "184", "site_lbl": "His184", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859876", "evidence": [ { "id": "rs3406143322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406143322" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859894", "evidence": [ { "id": "rs3389343357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343357" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Cys224", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859996", "evidence": [ { "id": "rs3389282366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282366" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61860002", "evidence": [ { "id": "rs3389363173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363173" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ala231", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61860016", "evidence": [ { "id": "rs3389372052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389372052" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Leu239", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61860040", "evidence": [ { "id": "rs3389353274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353274" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Lys290", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861260", "evidence": [ { "id": "rs1135058936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135058936" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Pro305", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861305", "evidence": [ { "id": "rs265999139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265999139" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Thr365", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861486", "evidence": [ { "id": "rs3389367602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367602" } ] }, { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861486", "evidence": [ { "id": "rs3389367602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367602" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Glu366", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861489", "evidence": [ { "id": "rs3406257756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406257756" }, { "id": "rs3389343296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343296" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Glu367", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61861492", "evidence": [ { "id": "rs3389343296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343296" } ] } ] }, { "uniprot_canonical_ac": "P01108-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859459", "evidence": [ { "id": "rs3389314186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389314186" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "15", "chr_pos": "61859460", "evidence": [ { "id": "rs3389361860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361860" } ] } ] } ], "record_id": "P01108-1" }, { "uniprot_canonical_ac": "P70670-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2187, "chemical_mass": 220499.0, "gene_names": "Naca;Gm1878;Naca;mKIAA0363;skNAC", "protein_name": "Nascent polypeptide-associated complex subunit alpha, muscle-specific form", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "nascent polypeptide-associated complex", "id": "GO:0005854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005854", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "negative regulation of protein localization to endoplasmic reticulum", "id": "GO:1905551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905551", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "regulation of skeletal muscle fiber development", "id": "GO:0048742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048742", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "cardiac ventricle development", "id": "GO:0003231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003231", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "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": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "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": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "negative regulation of striated muscle cell apoptotic process", "id": "GO:0010664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010664", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation involved in heart morphogenesis", "id": "GO:2000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000138", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70670-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Thr1066", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1066, "start_aa": "Thr", "end_pos": 1066, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1066", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1193", "end_pos": "1193", "site_lbl": "Thr1193", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1193, "start_aa": "Thr", "end_pos": 1193, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1193", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Ser1243", "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": 1243, "start_aa": "Ser", "end_pos": 1243, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1243", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1260", "end_pos": "1260", "site_lbl": "Thr1260", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1260, "start_aa": "Thr", "end_pos": 1260, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1260", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "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": 128, "start_aa": "Ser", "end_pos": 128, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser128", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "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": 129, "start_aa": "Ser", "end_pos": 129, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser129", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1485", "end_pos": "1485", "site_lbl": "Thr1485", "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": 1485, "start_aa": "Thr", "end_pos": 1485, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1485", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1541", "end_pos": "1541", "site_lbl": "Ser1541", "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": 1541, "start_aa": "Ser", "end_pos": 1541, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1541", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "127879591", "evidence": [ { "id": "rs3401422568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401422568" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1548", "end_pos": "1548", "site_lbl": "Thr1548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1548, "start_aa": "Thr", "end_pos": 1548, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1548", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "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": 159, "start_aa": "Ser", "end_pos": 159, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser159", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1613", "end_pos": "1613", "site_lbl": "Ser1613", "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": 1613, "start_aa": "Ser", "end_pos": 1613, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1613", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1645", "end_pos": "1645", "site_lbl": "Ser1645", "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": 1645, "start_aa": "Ser", "end_pos": 1645, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1645", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Ser1691", "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": 1691, "start_aa": "Ser", "end_pos": 1691, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1691", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1695", "end_pos": "1695", "site_lbl": "Ser1695", "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": 1695, "start_aa": "Ser", "end_pos": 1695, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1695", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1728", "end_pos": "1728", "site_lbl": "Thr1728", "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": 1728, "start_aa": "Thr", "end_pos": 1728, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1728", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1746", "end_pos": "1746", "site_lbl": "Thr1746", "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": 1746, "start_aa": "Thr", "end_pos": 1746, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1746", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1749", "end_pos": "1749", "site_lbl": "Ser1749", "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": 1749, "start_aa": "Ser", "end_pos": 1749, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1749", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1750", "end_pos": "1750", "site_lbl": "Ser1750", "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": 1750, "start_aa": "Ser", "end_pos": 1750, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1750", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1764", "end_pos": "1764", "site_lbl": "Ser1764", "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": 1764, "start_aa": "Ser", "end_pos": 1764, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1764", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Thr179", "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": 179, "start_aa": "Thr", "end_pos": 179, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr179", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "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": 180, "start_aa": "Ser", "end_pos": 180, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser180", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Thr181", "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": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "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": 182, "start_aa": "Ser", "end_pos": 182, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser182", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "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": 186, "start_aa": "Ser", "end_pos": 186, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser186", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60817", "url": "https://www.uniprot.org/uniprotkb/Q60817" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "10", "chr_pos": "127875526", "evidence": [ { "id": "rs3389127464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389127464" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Thr189", "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": 189, "start_aa": "Thr", "end_pos": 189, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr189", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1979", "end_pos": "1979", "site_lbl": "Thr1979", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1979, "start_aa": "Thr", "end_pos": 1979, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1979", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2071", "end_pos": "2071", "site_lbl": "Ser2071", "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": 2071, "start_aa": "Ser", "end_pos": 2071, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2071", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "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": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Thr227", "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": 227, "start_aa": "Thr", "end_pos": 227, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr227", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "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": 229, "start_aa": "Ser", "end_pos": 229, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser229", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "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": 240, "start_aa": "Ser", "end_pos": 240, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser240", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "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": 241, "start_aa": "Ser", "end_pos": 241, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser241", "evidence": [ { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "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": 246, "start_aa": "Ser", "end_pos": 246, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser246", "evidence": [ { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "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": 29, "start_aa": "Ser", "end_pos": 29, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser29", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Ser392", "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": 392, "start_aa": "Ser", "end_pos": 392, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser392", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "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": 403, "start_aa": "Ser", "end_pos": 403, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser403", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Thr408", "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": 408, "start_aa": "Thr", "end_pos": 408, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr408", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "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": 430, "start_aa": "Thr", "end_pos": 430, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr430", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 430, "start_aa": "Thr", "end_pos": 430, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr430", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "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": 432, "start_aa": "Ser", "end_pos": 432, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser432", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "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": 437, "start_aa": "Ser", "end_pos": 437, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser437", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Thr43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 43, "start_aa": "Thr", "end_pos": 43, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr43", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "10", "chr_pos": "127875096", "evidence": [ { "id": "rs581015172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581015172" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "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": 522, "start_aa": "Ser", "end_pos": 522, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser522", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "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": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "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": 558, "start_aa": "Thr", "end_pos": 558, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr558", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Thr559", "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": 559, "start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ser560", "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": 560, "start_aa": "Ser", "end_pos": 560, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser560", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Thr580", "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": 580, "start_aa": "Thr", "end_pos": 580, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr580", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ser615", "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": 615, "start_aa": "Ser", "end_pos": 615, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser615", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Ser708", "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": 708, "start_aa": "Ser", "end_pos": 708, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser708", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Thr748", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 748, "start_aa": "Thr", "end_pos": 748, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr748", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "752", "end_pos": "752", "site_lbl": "Ser752", "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": 752, "start_aa": "Ser", "end_pos": 752, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser752", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Thr760", "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": 760, "start_aa": "Thr", "end_pos": 760, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr760", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "10", "chr_pos": "127877248", "evidence": [ { "id": "rs3389130083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389130083" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Thr774", "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": 774, "start_aa": "Thr", "end_pos": 774, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr774", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Thr798", "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": 798, "start_aa": "Thr", "end_pos": 798, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr798", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Thr826", "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": 826, "start_aa": "Thr", "end_pos": 826, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr826", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Thr835", "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": 835, "start_aa": "Thr", "end_pos": 835, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr835", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "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": 886, "start_aa": "Thr", "end_pos": 886, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr886", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Thr95", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 95, "start_aa": "Thr", "end_pos": 95, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr95", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "10", "chr_pos": "127875253", "evidence": [ { "id": "rs3389135765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389135765" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "972", "end_pos": "972", "site_lbl": "Thr972", "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": 972, "start_aa": "Thr", "end_pos": 972, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr972", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P70670", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70670" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P70670", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Thr995", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 995, "start_aa": "Thr", "end_pos": 995, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr995", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Ser1174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1177", "end_pos": "1177", "site_lbl": "Ser1177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1364", "end_pos": "1364", "site_lbl": "Thr1364", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1368", "end_pos": "1368", "site_lbl": "Ser1368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1392", "end_pos": "1392", "site_lbl": "Ser1392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1398", "end_pos": "1398", "site_lbl": "Thr1398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1400", "end_pos": "1400", "site_lbl": "Ser1400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1423", "end_pos": "1423", "site_lbl": "Ser1423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1492", "end_pos": "1492", "site_lbl": "Ser1492", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2015", "end_pos": "2015", "site_lbl": "Ser2015", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2104", "end_pos": "2104", "site_lbl": "Ser2104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2131", "end_pos": "2131", "site_lbl": "Thr2131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q60817", "url": "https://www.uniprot.org/uniprotkb/Q60817" }, { "database": "iPTMnet", "id": "Q60817", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60817" }, { "database": "PubMed", "id": "15005626", "url": "https://glygen.org/publication/PubMed/15005626" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2133", "end_pos": "2133", "site_lbl": "Thr2133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2138", "end_pos": "2138", "site_lbl": "Ser2138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" }, { "database": "UniProtKB", "id": "Q60817", "url": "https://www.uniprot.org/uniprotkb/Q60817" }, { "database": "iPTMnet", "id": "Q60817", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60817" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2158", "end_pos": "2158", "site_lbl": "Ser2158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2163", "end_pos": "2163", "site_lbl": "Ser2163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2175", "end_pos": "2175", "site_lbl": "Ser2175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Thr590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Ser822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70670", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70670" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1761", "end_pos": "1761", "site_lbl": "Asp1761", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "10", "chr_pos": "127880250", "evidence": [ { "id": "rs221801071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221801071" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1813", "end_pos": "1813", "site_lbl": "Asn1813", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "10", "chr_pos": "127880407", "evidence": [ { "id": "rs222185030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222185030" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Lys2040", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "10", "chr_pos": "127882645", "evidence": [ { "id": "rs3389142971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389142971" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "2178", "end_pos": "2178", "site_lbl": "Ile2178", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "10", "chr_pos": "127884220", "evidence": [ { "id": "rs3389127418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389127418" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ser704", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "10", "chr_pos": "127877080", "evidence": [ { "id": "rs229478061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229478061" } ] } ] }, { "uniprot_canonical_ac": "P70670-1", "start_pos": "1952", "end_pos": "1952", "site_lbl": "Leu1952", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of interaction with SMYD1.", "evidence": [ { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprotkb/P70670" }, { "database": "PubMed", "id": "12011100", "url": "https://glygen.org/publication/PubMed/12011100" } ] } ] } ], "record_id": "P70670-1" }, { "uniprot_canonical_ac": "Q1EG27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1305, "chemical_mass": 148099.0, "gene_names": "Myo3b;A430065P19Rik;Myo3b", "protein_name": "Myosin-IIIb", "disease": [], "biological_process": [ { "name": "regulation of actin filament length", "id": "GO:0030832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030832", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "stereocilium tip", "id": "GO:0032426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032426", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q1EG27", "url": "https://www.uniprot.org/uniprotkb/Q1EG27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q1EG27-1" }, { "uniprot_canonical_ac": "Q5DU14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1919, "chemical_mass": 211383.0, "gene_names": "Myo16;C230040D10Rik;Gm1105;Kiaa0865;Myo16;NYAP3;Nyap3;mKIAA0865", "protein_name": "Unconventional myosin-XVI", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1513", "end_pos": "1513", "site_lbl": "Thr1513", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1513, "start_aa": "Thr", "end_pos": 1513, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1513", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Thr1587", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1587, "start_aa": "Thr", "end_pos": 1587, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1587", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "8", "chr_pos": "10620209", "evidence": [ { "id": "rs3388965851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388965851" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1767", "end_pos": "1767", "site_lbl": "Asn1767", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAEGFETNMNLSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1767, "start_aa": "Asn", "end_pos": 1767, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1767", "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": "Q5DU14-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Ile1149", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "8", "chr_pos": "10604667", "evidence": [ { "id": "rs3388923410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923410" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1344", "end_pos": "1344", "site_lbl": "Lys1344", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "8", "chr_pos": "10619482", "evidence": [ { "id": "rs3388969600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969600" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Gly389", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCG->NCS).", "chr_id": "8", "chr_pos": "10434724", "evidence": [ { "id": "rs49990404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49990404" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Lys800", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEK->NET).", "chr_id": "8", "chr_pos": "10524649", "evidence": [ { "id": "rs3388940034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388940034" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1416", "end_pos": "1416", "site_lbl": "Tyr1416", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Slight reduction of phosphorylation in HEK293T cells. Abolishes phosphorylation in HEK293T cells and neurons; when associated with F-1441.", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" }, { "database": "PubMed", "id": "21946561", "url": "https://glygen.org/publication/PubMed/21946561" } ] } ] }, { "uniprot_canonical_ac": "Q5DU14-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Tyr1441", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Slight reduction of phosphorylation in HEK293T cells. Abolishes phosphorylation in HEK293T cells and in neurons; when associated with F-1416.", "evidence": [ { "database": "UniProtKB", "id": "Q5DU14", "url": "https://www.uniprot.org/uniprotkb/Q5DU14" }, { "database": "PubMed", "id": "21946561", "url": "https://glygen.org/publication/PubMed/21946561" } ] } ] } ], "record_id": "Q5DU14-1" }, { "uniprot_canonical_ac": "Q60974-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2453, "chemical_mass": 270642.0, "gene_names": "Ncor1;Rxrip13", "protein_name": "Nuclear receptor corepressor 1", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 } ], "biological_process": [ { "name": "CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0002361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002361", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "regulation of thyroid hormone receptor signaling pathway", "id": "GO:0002155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002155", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "definitive erythrocyte differentiation", "id": "GO:0060318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060318", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of fatty acid metabolic process", "id": "GO:0045922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045922", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "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": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "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": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "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": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "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": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "cellular response to Thyroglobulin triiodothyronine", "id": "GO:1904017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904017", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "negative regulation of intracellular signal transduction", "id": "GO:1902532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902532", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "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": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor binding", "id": "GO:0042975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "histone deacetylase regulator activity", "id": "GO:0035033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035033", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "Thr1038", "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": 1038, "start_aa": "Thr", "end_pos": 1038, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1038", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1039", "end_pos": "1039", "site_lbl": "Thr1039", "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": 1039, "start_aa": "Thr", "end_pos": 1039, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1039", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Thr1042", "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": 1042, "start_aa": "Thr", "end_pos": 1042, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1042", "evidence": [ { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1051", "end_pos": "1051", "site_lbl": "Ser1051", "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": 1051, "start_aa": "Ser", "end_pos": 1051, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1051", "evidence": [ { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Ser1052", "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": 1052, "start_aa": "Ser", "end_pos": 1052, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1052", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Thr1156", "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": 1156, "start_aa": "Thr", "end_pos": 1156, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1156", "evidence": [ { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1493", "end_pos": "1493", "site_lbl": "Thr1493", "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": 1493, "start_aa": "Thr", "end_pos": 1493, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1493", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Ser1496", "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": 1496, "start_aa": "Ser", "end_pos": 1496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1496", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1502", "end_pos": "1502", "site_lbl": "Ser1502", "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": 1502, "start_aa": "Ser", "end_pos": 1502, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1502", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1509", "end_pos": "1509", "site_lbl": "Asn1509", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSPMMNRTSDVSSSKSASHER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1509, "start_aa": "Asn", "end_pos": 1509, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1509", "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": "Q60974-1", "start_pos": "1600", "end_pos": "1600", "site_lbl": "Thr1600", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1600, "start_aa": "Thr", "end_pos": 1600, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1600", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1873", "end_pos": "1873", "site_lbl": "Ser1873", "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": 1873, "start_aa": "Ser", "end_pos": 1873, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1873", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1877", "end_pos": "1877", "site_lbl": "Ser1877", "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": 1877, "start_aa": "Ser", "end_pos": 1877, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1877", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1893", "end_pos": "1893", "site_lbl": "Ser1893", "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": 1893, "start_aa": "Ser", "end_pos": 1893, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1893", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1899", "end_pos": "1899", "site_lbl": "Thr1899", "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": 1899, "start_aa": "Thr", "end_pos": 1899, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1899", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1900", "end_pos": "1900", "site_lbl": "Ser1900", "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": 1900, "start_aa": "Ser", "end_pos": 1900, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1900", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1901", "end_pos": "1901", "site_lbl": "Ser1901", "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": 1901, "start_aa": "Ser", "end_pos": 1901, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1901", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2020", "end_pos": "2020", "site_lbl": "Asn2020", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YETASDAIEVISPASSPAPPQEKPQAYQPDMVKANQAENESTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2020, "start_aa": "Asn", "end_pos": 2020, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2020", "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": "Q60974-1", "start_pos": "2041", "end_pos": "2041", "site_lbl": "Ser2041", "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": 2041, "start_aa": "Ser", "end_pos": 2041, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2041", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2247", "end_pos": "2247", "site_lbl": "Thr2247", "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": 2247, "start_aa": "Thr", "end_pos": 2247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2247", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2256", "end_pos": "2256", "site_lbl": "Thr2256", "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": 2256, "start_aa": "Thr", "end_pos": 2256, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2256", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "38861834", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38861834" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2257", "end_pos": "2257", "site_lbl": "Thr2257", "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": 2257, "start_aa": "Thr", "end_pos": 2257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2257", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "Q60974", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q60974" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "19458039", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19458039" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ser51", "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": 51, "start_aa": "Ser", "end_pos": 51, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser51", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q60974", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q60974" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "11", "chr_pos": "62324482", "evidence": [ { "id": "rs3548710509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548710509" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Ser1011", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1122", "end_pos": "1122", "site_lbl": "Ser1122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1206", "end_pos": "1206", "site_lbl": "Ser1206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1207", "end_pos": "1207", "site_lbl": "Ser1207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1274", "end_pos": "1274", "site_lbl": "Ser1274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Ser1292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Ser1333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Thr1378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Ser1459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1481", "end_pos": "1481", "site_lbl": "Ser1481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "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": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1598", "end_pos": "1598", "site_lbl": "Ser1598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1993", "end_pos": "1993", "site_lbl": "Ser1993", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "1997", "end_pos": "1997", "site_lbl": "Ser1997", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2116", "end_pos": "2116", "site_lbl": "Ser2116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2134", "end_pos": "2134", "site_lbl": "Ser2134", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2150", "end_pos": "2150", "site_lbl": "Ser2150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2165", "end_pos": "2165", "site_lbl": "Ser2165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2198", "end_pos": "2198", "site_lbl": "Ser2198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2412", "end_pos": "2412", "site_lbl": "Thr2412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2449", "end_pos": "2449", "site_lbl": "Ser2449", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "2451", "end_pos": "2451", "site_lbl": "Ser2451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q60974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60974" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Asp890", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "11", "chr_pos": "62263963", "evidence": [ { "id": "rs225053185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225053185" } ] } ] }, { "uniprot_canonical_ac": "Q60974-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Tyr478", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "In DADm mutant; loss of ability to interact with HDAC3 which causes aberrant regulation of clock genes and results in abnormal circadian behavior. Mice are also leaner and more insulin sensitive due to increased energy expenditure and exhibit dramatic alterations in cyclic expression of several critical genes involved in lipid metabolism in the liver.", "evidence": [ { "database": "UniProtKB", "id": "Q60974", "url": "https://www.uniprot.org/uniprotkb/Q60974" }, { "database": "PubMed", "id": "19037247", "url": "https://glygen.org/publication/PubMed/19037247" } ] } ] } ], "record_id": "Q60974-1" }, { "uniprot_canonical_ac": "Q6PGB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 169, "chemical_mass": 19414.0, "gene_names": "Naa50;2600005K24Rik;2810441M03Rik;Mak3p;Mak3;Naa50;Nat13;Nat5;San", "protein_name": "N-alpha-acetyltransferase 50", "disease": [], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "histone H4 acetyltransferase activity", "id": "GO:0010485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010485", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "protein-N-terminal amino-acid acetyltransferase activity", "id": "GO:0004596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004596", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "protein N-terminal-methionine acetyltransferase activity", "id": "GO:0120518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120518", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "NatA complex", "id": "GO:0031415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031415", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" } ], "biological_process": [ { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion, centromeric", "id": "GO:0071962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071962", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "establishment of mitotic sister chromatid cohesion", "id": "GO:0034087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034087", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion", "id": "GO:0007064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007064", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" }, { "name": "N-terminal protein amino acid acetylation", "id": "GO:0006474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006474", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PGB6-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Tyr110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ] } ] }, { "uniprot_canonical_ac": "Q6PGB6-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PGB6", "url": "https://www.uniprot.org/uniprotkb/Q6PGB6" } ] } ] } ], "record_id": "Q6PGB6-1" }, { "uniprot_canonical_ac": "Q8C170-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2542, "chemical_mass": 292119.0, "gene_names": "Myo9a;4732465J09Rik;C130068I12Rik;C230003M11;Myo9a;Myr7", "protein_name": "Unconventional myosin-IXa", "disease": [ { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:14159", "name": "obstructive hydrocephalus", "description": "A hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system.", "url": "https://disease-ontology.org/term/DOID:14159", "evidence": [ { "id": "14159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14159" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "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": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" } ], "biological_process": [ { "name": "cell junction assembly", "id": "GO:0034329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034329", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "regulation of neuron projection arborization", "id": "GO:0150011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150011", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" }, { "name": "postsynaptic specialization organization", "id": "GO:0099084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099084", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1545", "end_pos": "1545", "site_lbl": "Thr1545", "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": 1545, "start_aa": "Thr", "end_pos": 1545, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1545", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8C170", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C170" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1795", "end_pos": "1795", "site_lbl": "Thr1795", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1795, "start_aa": "Thr", "end_pos": 1795, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1795", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1948", "end_pos": "1948", "site_lbl": "Asn1948", "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": "DWNESPVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1948, "start_aa": "Asn", "end_pos": 1948, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1948", "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": "Q8C170-1", "start_pos": "2434", "end_pos": "2434", "site_lbl": "Asn2434", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07036HW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPDSLDSVSSSVSSCLSNTTSSHGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2434, "start_aa": "Asn", "end_pos": 2434, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2434", "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": "Q8C170-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MNVSDGGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2, "start_aa": "Asn", "end_pos": 2, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2", "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": "Q8C170-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Thr477", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 477, "start_aa": "Thr", "end_pos": 477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr477", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Asn815", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LPASNTSLLDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 815, "start_aa": "Asn", "end_pos": 815, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn815", "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": "Q8C170-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Ser1243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C170", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Thr1245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C170", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1259", "end_pos": "1259", "site_lbl": "Ser1259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1300", "end_pos": "1300", "site_lbl": "Ser1300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1318", "end_pos": "1318", "site_lbl": "Ser1318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1950", "end_pos": "1950", "site_lbl": "Ser1950", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C170", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "2293", "end_pos": "2293", "site_lbl": "Ser2293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C170", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "2296", "end_pos": "2296", "site_lbl": "Ser2296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "2458", "end_pos": "2458", "site_lbl": "Ser2458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C170", "url": "https://www.uniprot.org/uniprotkb/Q8C170" } ] } ] }, { "uniprot_canonical_ac": "Q8C170-1", "start_pos": "1888", "end_pos": "1888", "site_lbl": "Lys1888", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDT->NDT).", "chr_id": "9", "chr_pos": "59802076", "evidence": [ { "id": "rs247433617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247433617" } ] } ] } ], "record_id": "Q8C170-1" }, { "uniprot_canonical_ac": "Q8K596-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 921, "chemical_mass": 100711.0, "gene_names": "Slc8a2;Ncx2;Slc8a2", "protein_name": "Sodium/calcium exchanger 2", "disease": [ { "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: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 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of short-term neuronal synaptic plasticity", "id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "modulation of excitatory postsynaptic potential", "id": "GO:0098815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098815", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium ion transport into cytosol", "id": "GO:0060402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060402", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium ion export across plasma membrane", "id": "GO:1990034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990034", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "regulation of action potential firing pattern", "id": "GO:0099608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099608", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "regulation of calcineurin-mediated signaling", "id": "GO:0106056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106056", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium:sodium antiporter activity", "id": "GO:0005432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005432", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "sodium ion transmembrane transporter activity", "id": "GO:0015081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015081", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium ion transmembrane transporter activity", "id": "GO:0015085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015085", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "calcium:monoatomic cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:1905060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905060", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" } ], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K596-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asn125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 125, "start_aa": "Asn", "end_pos": 125, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn125", "evidence": [ { "id": "Q8K596", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K596#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K596-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q8K596", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K596#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K596-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Thr25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 25, "start_aa": "Thr", "end_pos": 25, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr25", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K596-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K596", "url": "https://www.uniprot.org/uniprotkb/Q8K596" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K596", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K596" } ] } ] } ], "record_id": "Q8K596-1" }, { "uniprot_canonical_ac": "Q9QY06-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2114, "chemical_mass": 238834.0, "gene_names": "Myo9b;Myr5", "protein_name": "Unconventional myosin-IXb", "disease": [], "cellular_component": [ { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "Roundabout binding", "id": "GO:0048495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048495", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "ATP-dependent protein binding", "id": "GO:0043008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043008", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "actin-myosin filament sliding", "id": "GO:0033275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033275", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "lamellipodium morphogenesis", "id": "GO:0072673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072673", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" }, { "name": "Roundabout signaling pathway", "id": "GO:0035385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035385", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1045", "end_pos": "1045", "site_lbl": "Ser1045", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Ser1106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1113", "end_pos": "1113", "site_lbl": "Ser1113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1175", "end_pos": "1175", "site_lbl": "Ser1175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1218", "end_pos": "1218", "site_lbl": "Ser1218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Ser1220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1235", "end_pos": "1235", "site_lbl": "Ser1235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Ser1241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Ser1245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1264", "end_pos": "1264", "site_lbl": "Ser1264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Ser1266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1302", "end_pos": "1302", "site_lbl": "Ser1302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1317", "end_pos": "1317", "site_lbl": "Thr1317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1325", "end_pos": "1325", "site_lbl": "Ser1325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1327", "end_pos": "1327", "site_lbl": "Ser1327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1335", "end_pos": "1335", "site_lbl": "Ser1335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1371", "end_pos": "1371", "site_lbl": "Ser1371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1647", "end_pos": "1647", "site_lbl": "Ser1647", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1884", "end_pos": "1884", "site_lbl": "Ser1884", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1929", "end_pos": "1929", "site_lbl": "Ser1929", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1949", "end_pos": "1949", "site_lbl": "Ser1949", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1956", "end_pos": "1956", "site_lbl": "Ser1956", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "1962", "end_pos": "1962", "site_lbl": "Thr1962", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "2007", "end_pos": "2007", "site_lbl": "Ser2007", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "2098", "end_pos": "2098", "site_lbl": "Ser2098", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QY06", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Ser716", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] }, { "uniprot_canonical_ac": "Q9QY06-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Ser717", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QY06", "url": "https://www.uniprot.org/uniprotkb/Q9QY06" } ] } ] } ], "record_id": "Q9QY06-1" }, { "uniprot_canonical_ac": "Q8CEC0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 753, "chemical_mass": 84938.0, "gene_names": "Nup88;Nup84;Nup88;Prei2", "protein_name": "Nuclear pore complex protein Nup88", "disease": [ { "disease_id": "DOID:0111379", "name": "fetal akinesia deformation sequence syndrome 4", "description": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.", "url": "https://disease-ontology.org/term/DOID:0111379", "evidence": [ { "id": "0111379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111379" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ribosomal large subunit export from nucleus", "id": "GO:0000055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000055", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "ribosomal small subunit export from nucleus", "id": "GO:0000056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000056", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of nuclear pore", "id": "GO:0017056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017056", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CEC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Thr526", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CEC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" } ] } ] }, { "uniprot_canonical_ac": "Q8CEC0-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEC0", "url": "https://www.uniprot.org/uniprotkb/Q8CEC0" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8CEC0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CEC0" } ] } ] } ], "record_id": "Q8CEC0-1" }, { "uniprot_canonical_ac": "Q99L02-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 27723.0, "gene_names": "Gm42742;Pagr1a;2900092E17Rik;PA1;PAGR1;Pa1;Pagr1a;Pagr", "protein_name": "PAXIP1-associated glutamate-rich protein 1A", "disease": [ { "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 } ], "biological_process": [ { "name": "chorion development", "id": "GO:0060717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060717", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "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": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "positive regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "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": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "regulation of cell cycle G2/M phase transition", "id": "GO:1902749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902749", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G1/S phase transition", "id": "GO:1902808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902808", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" } ], "molecular_function": [ { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99L02-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Thr235", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 235, "start_aa": "Thr", "end_pos": 235, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr235", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q99L02-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ] } ] }, { "uniprot_canonical_ac": "Q99L02-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ] } ] }, { "uniprot_canonical_ac": "Q99L02-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ] } ] }, { "uniprot_canonical_ac": "Q99L02-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99L02", "url": "https://www.uniprot.org/uniprotkb/Q99L02" } ] } ] } ], "record_id": "Q99L02-1" }, { "uniprot_canonical_ac": "P29341-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 636, "chemical_mass": 70671.0, "gene_names": "Pabpc1;PABP;Pabp1;PabpI;Pabpc1;Pabpl1;ePAB", "protein_name": "Polyadenylate-binding protein 1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "poly(A) binding", "id": "GO:0008143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008143", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "poly(U) RNA binding", "id": "GO:0008266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008266", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "mCRD-mediated mRNA stability complex", "id": "GO:0106002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106002", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" }, { "name": "negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000623", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P29341-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "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": 485, "start_aa": "Thr", "end_pos": 485, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr485", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P29341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P29341" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "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": 487, "start_aa": "Thr", "end_pos": 487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr487", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Thr502", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 502, "start_aa": "Thr", "end_pos": 502, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr502", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Thr531", "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": 531, "start_aa": "Thr", "end_pos": 531, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr531", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Thr546", "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": 546, "start_aa": "Thr", "end_pos": 546, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr546", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P29341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P29341" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "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": 548, "start_aa": "Ser", "end_pos": 548, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser548", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P29341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P29341" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ser629", "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": 629, "start_aa": "Ser", "end_pos": 629, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser629", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Thr631", "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": 631, "start_aa": "Thr", "end_pos": 631, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr631", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Thr635", "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": 635, "start_aa": "Thr", "end_pos": 635, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr635", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P29341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P29341" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "P29341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ] } ] }, { "uniprot_canonical_ac": "P29341-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Thr319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29341", "url": "https://www.uniprot.org/uniprotkb/P29341" } ] } ] } ], "record_id": "P29341-1" }, { "uniprot_canonical_ac": "P47239-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 54939.0, "gene_names": "Pax7;Pax-7;Pax7", "protein_name": "Paired box protein Pax-7", "disease": [ { "disease_id": "DOID:0081351", "name": "congenital myopathy 19", "description": "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0081351", "evidence": [ { "id": "0081351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081351" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:4051", "name": "alveolar rhabdomyosarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4051", "evidence": [ { "id": "4051", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4051" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "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": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "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": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "positive regulation of myoblast proliferation", "id": "GO:2000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000288", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell commitment", "id": "GO:0014813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014813", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "regulation of cell fate commitment", "id": "GO:0010453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010453", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "muscle tissue morphogenesis", "id": "GO:0060415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060415", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "regulation of chromatin organization", "id": "GO:1902275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902275", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "skeletal muscle organ development", "id": "GO:0060538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060538", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "tissue morphogenesis", "id": "GO:0048729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048729", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "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": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P47239-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Lys105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished acetylation by KAT8, leading to reduced transcription factor activity; when associated with R-139.", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" }, { "database": "PubMed", "id": "34059674", "url": "https://glygen.org/publication/PubMed/34059674" } ] } ] }, { "uniprot_canonical_ac": "P47239-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Lys139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished acetylation by KAT8, leading to reduced transcription factor activity; when associated with R-105.", "evidence": [ { "database": "UniProtKB", "id": "P47239", "url": "https://www.uniprot.org/uniprotkb/P47239" }, { "database": "PubMed", "id": "34059674", "url": "https://glygen.org/publication/PubMed/34059674" } ] } ] } ], "record_id": "P47239-1" }, { "uniprot_canonical_ac": "O35973-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1291, "chemical_mass": 136373.0, "gene_names": "Per1;Hftm;Per1;Per;Rigui;m-rigui;mPer1", "protein_name": "Period circadian protein homolog 1", "disease": [ { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of p38MAPK cascade", "id": "GO:1900744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900744", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "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": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "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": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "post-transcriptional regulation of gene expression", "id": "GO:0010608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010608", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "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": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "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": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in inflammatory response", "id": "GO:1900015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900015", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "regulation of hair cycle", "id": "GO:0042634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042634", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "negative regulation of nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:2000323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000323", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35973-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Thr763", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 763, "start_aa": "Thr", "end_pos": 763, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr763", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Thr769", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 769, "start_aa": "Thr", "end_pos": 769, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr769", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Thr929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 929, "start_aa": "Thr", "end_pos": 929, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr929", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "947", "end_pos": "947", "site_lbl": "Thr947", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 947, "start_aa": "Thr", "end_pos": 947, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr947", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Thr121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Ser661", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "15148313", "url": "https://glygen.org/publication/PubMed/15148313" }, { "database": "iPTMnet", "id": "O35973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35973" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced phosphorylation. No nuclear entry of PER1, CRY1 nor CKSN1E; when associated with A-663.", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Ser663", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "15148313", "url": "https://glygen.org/publication/PubMed/15148313" }, { "database": "iPTMnet", "id": "O35973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35973" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced phosphorylation. No nuclear entry PER1, CRY1 nor CKSN1E; when associated with A-661.", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ser704", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Ser714", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35973" }, { "database": "PubMed", "id": "16750171", "url": "https://glygen.org/publication/PubMed/16750171" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ser815", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "978", "end_pos": "978", "site_lbl": "Ser978", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Ser979", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Tyr267", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "E", "comment": "No effect on homodimerization. Abolishes homodimerization; when associated with E-444.", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "22331899", "url": "https://glygen.org/publication/PubMed/22331899" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Phe444", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "E", "comment": "Reduces homodimerization. Abolishes homodimerization; when associated with E-267.", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "22331899", "url": "https://glygen.org/publication/PubMed/22331899" } ] } ] }, { "uniprot_canonical_ac": "O35973-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Trp448", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "E", "comment": "Abolishes homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "O35973", "url": "https://www.uniprot.org/uniprotkb/O35973" }, { "database": "PubMed", "id": "22331899", "url": "https://glygen.org/publication/PubMed/22331899" } ] } ] } ], "record_id": "O35973-1" }, { "uniprot_canonical_ac": "Q8BTQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 241, "chemical_mass": 28046.0, "gene_names": "PcgF3;Pcgf3;2310035N15Rik;D630042K08Rik;DONG1;E430039C14;Pcgf3;RNF3A;Rnf3a;Rnf3", "protein_name": "Polycomb group RING finger protein 3", "disease": [], "biological_process": [ { "name": "random inactivation of X chromosome", "id": "GO:0060816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060816", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "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": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" }, { "name": "PRC1 complex", "id": "GO:0035102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035102", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" }, { "name": "histone H2AK119 ubiquitin ligase activity", "id": "GO:0140862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140862", "evidence": [ { "database": "UniProtKB", "id": "Q8BTQ0", "url": "https://www.uniprot.org/uniprotkb/Q8BTQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BTQ0-1" }, { "uniprot_canonical_ac": "Q8BYK5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 558, "chemical_mass": 62652.0, "gene_names": "Phactr3;1500003N10Rik;4930415A02Rik;H17739;Phactr3;Scapin1;Scapinin;mKIAA4224", "protein_name": "Phosphatase and actin regulator 3", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BYK5-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Thr235", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 235, "start_aa": "Thr", "end_pos": 235, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr235", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BYK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BYK5" } ] } ] }, { "uniprot_canonical_ac": "Q8BYK5-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BYK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BYK5" } ] } ] }, { "uniprot_canonical_ac": "Q8BYK5-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYK5", "url": "https://www.uniprot.org/uniprotkb/Q8BYK5" } ] } ] } ], "record_id": "Q8BYK5-1" }, { "uniprot_canonical_ac": "Q9Z1N2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 840, "chemical_mass": 95103.0, "gene_names": "Orc1;MmORC1;Orc1l;Orc1", "protein_name": "Origin recognition complex subunit 1", "disease": [ { "disease_id": "DOID:0080512", "name": "Meier-Gorlin syndrome 1", "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.", "url": "https://disease-ontology.org/term/DOID:0080512", "evidence": [ { "id": "0080512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080512" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA replication origin binding", "id": "GO:0003688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003688", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "nuclear origin of replication recognition complex", "id": "GO:0005664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005664", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "origin recognition complex", "id": "GO:0000808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000808", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "DNA replication initiation", "id": "GO:0006270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "positive regulation of G0 to G1 transition", "id": "GO:0070318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070318", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033314", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Thr794", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 794, "start_aa": "Thr", "end_pos": 794, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr794", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Ser258", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Ser291", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1N2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1N2" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1N2-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Pro284", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "4", "chr_pos": "108454461", "evidence": [ { "id": "rs28129817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28129817" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "4", "chr_pos": "108454461", "evidence": [ { "id": "rs28129817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28129817" } ] } ] } ], "record_id": "Q9Z1N2-1" }, { "uniprot_canonical_ac": "P53612-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 37803.0, "gene_names": "Rabggtb;Rabggtb", "protein_name": "Geranylgeranyl transferase type-2 subunit beta", "disease": [], "molecular_function": [ { "name": "Rab geranylgeranyltransferase activity", "id": "GO:0004663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004663", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "isoprenoid binding", "id": "GO:0019840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019840", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "protein prenyltransferase activity", "id": "GO:0008318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008318", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "Rab-protein geranylgeranyltransferase complex", "id": "GO:0005968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005968", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" }, { "name": "protein geranylgeranylation", "id": "GO:0018344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018344", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P53612-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Thr11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53612", "url": "https://www.uniprot.org/uniprotkb/P53612" } ] } ] } ], "record_id": "P53612-1" }, { "uniprot_canonical_ac": "Q9DBX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 34407.0, "gene_names": "Pdcl;1200011E13Rik;Pdcl;PhLP1", "protein_name": "Phosducin-like protein", "disease": [], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex assembly", "id": "GO:1902605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902605", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "negative regulation of protein refolding", "id": "GO:0061084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061084", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Thr42", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 42, "start_aa": "Thr", "end_pos": 42, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr42", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ] } ] }, { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ] } ] }, { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" }, { "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": "Q9DBX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBX2" } ] } ] }, { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ] } ] }, { "uniprot_canonical_ac": "Q9DBX2-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX2", "url": "https://www.uniprot.org/uniprotkb/Q9DBX2" } ] } ] } ], "record_id": "Q9DBX2-1" }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 274, "chemical_mass": 30049.0, "gene_names": "Plpbp;1700024N20Rik;2200002F22Rik;Plpbp;Prosc", "protein_name": "Pyridoxal phosphate homeostasis protein", "disease": [ { "disease_id": "DOID:0080769", "name": "early-onset vitamin B6-dependent epilepsy 1", "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0080769", "evidence": [ { "id": "0080769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080769" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "pmid": "" } ], "biological_process": [ { "name": "vitamin B6 metabolic process", "id": "GO:0042816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042816", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Thr136", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 136, "start_aa": "Thr", "end_pos": 136, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr136", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Tyr69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q9Z2Y8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Y8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Y8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Y8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Lys265", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "8", "chr_pos": "27543412", "evidence": [ { "id": "rs3388932099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388932099" } ] } ] } ], "record_id": "Q9Z2Y8-1" }, { "uniprot_canonical_ac": "Q9D0K1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 405, "chemical_mass": 44610.0, "gene_names": "Pex13;2610008O20Rik;Pex13", "protein_name": "Peroxisomal membrane protein PEX13", "disease": [ { "disease_id": "DOID:0080485", "name": "peroxisome biogenesis disorder 11A", "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.", "url": "https://disease-ontology.org/term/DOID:0080485", "evidence": [ { "id": "0080485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080485" } ], "weight": 0.0 }, { "disease_id": "DOID:0081439", "name": "Peroxisome biogenesis disorder 11B", "description": "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.", "url": "https://disease-ontology.org/term/DOID:0081439", "evidence": [ { "id": "0081439", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081439" } ], "weight": 0.0 }, { "disease_id": "DOID:906", "name": "peroxisomal disease", "description": "An inherited metabolic disorder that involves peroxisome malfunction.", "url": "https://disease-ontology.org/term/DOID:906", "evidence": [ { "id": "906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:906" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein import into peroxisome matrix, translocation", "id": "GO:0016561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016561", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "protein unfolding", "id": "GO:0043335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043335", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "suckling behavior", "id": "GO:0001967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001967", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "fatty acid alpha-oxidation", "id": "GO:0001561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001561", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix", "id": "GO:0016558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016558", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "microtubule-based peroxisome localization", "id": "GO:0060152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060152", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, docking", "id": "GO:0016560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016560", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, receptor recycling", "id": "GO:0016562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016562", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisomal importomer complex", "id": "GO:1990429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990429", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" } ], "molecular_function": [ { "name": "peroxisome targeting sequence binding", "id": "GO:0000268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000268", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D0K1-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0K1", "url": "https://www.uniprot.org/uniprotkb/Q9D0K1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9D0K1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0K1" } ] } ] } ], "record_id": "Q9D0K1-1" }, { "uniprot_canonical_ac": "Q9R0E2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 728, "chemical_mass": 83595.0, "gene_names": "Plod1;2410042F05Rik;Lh1;Plod1;Plod", "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1", "disease": [ { "disease_id": "DOID:0080734", "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080734", "evidence": [ { "id": "0080734", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080734" } ], "weight": 0.0 }, { "disease_id": "DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum membrane", "id": "GO:0030867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030867", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" } ], "biological_process": [ { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "hydroxylysine biosynthetic process", "id": "GO:0046947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046947", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "peptidyl-lysine hydroxylation", "id": "GO:0017185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017185", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" }, { "name": "procollagen-lysine 5-dioxygenase activity", "id": "GO:0008475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008475", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E2", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EQINISLDHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "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" } ] }, { "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": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "Q9R0E2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->IIS); glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148012968", "evidence": [ { "id": "rs3388720046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720046" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Asn539", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2607" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YIHENYTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "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" } ] }, { "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": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "Q9R0E2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Asn687", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 687, "start_aa": "Asn", "end_pos": 687, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn687", "evidence": [ { "id": "Q9R0E2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0E2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Asp368", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DLC->NLC); glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148005958", "evidence": [ { "id": "rs3388737472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737472" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Tyr103", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148015741", "evidence": [ { "id": "rs3388733293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733293" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Phe183", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148014032", "evidence": [ { "id": "rs3388730156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730156" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ala214", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000683", "evidence": [ { "id": "rs3542990885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542990885" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Val240", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148011506", "evidence": [ { "id": "rs3388725764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725764" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asn256", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148010684", "evidence": [ { "id": "rs3395064427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395064427" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Val291", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148010081", "evidence": [ { "id": "rs3388735493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735493" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Arg311", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148010021", "evidence": [ { "id": "rs3388733472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733472" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Glu327", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148007700", "evidence": [ { "id": "rs3388731833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731833" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Leu332", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148007687", "evidence": [ { "id": "rs3388728195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728195" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Glu335", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148007677", "evidence": [ { "id": "rs3388717702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717702" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Glu340", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148007662", "evidence": [ { "id": "rs3388737500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737500" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Arg371", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148005948", "evidence": [ { "id": "rs3388730157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730157" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Val382", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148005916", "evidence": [ { "id": "rs3388720027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720027" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Tyr428", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148005512", "evidence": [ { "id": "rs3388725724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725724" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Gln49", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148017211", "evidence": [ { "id": "rs3388728107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728107" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "505", "end_pos": "505", "site_lbl": "His505", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148003311", "evidence": [ { "id": "rs3388725765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725765" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "518", "end_pos": "518", "site_lbl": "His518", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148003272", "evidence": [ { "id": "rs3388735511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735511" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Trp522", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148003258", "evidence": [ { "id": "rs3388732975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732975" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Lys547", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148002604", "evidence": [ { "id": "rs3388732986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732986" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Asp568", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148001816", "evidence": [ { "id": "rs3394962111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394962111" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148001817", "evidence": [ { "id": "rs3388706409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388706409" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Glu572", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148001805", "evidence": [ { "id": "rs3388725790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725790" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "576", "end_pos": "576", "site_lbl": "His576", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148001794", "evidence": [ { "id": "rs3388719988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719988" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Tyr577", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148001790", "evidence": [ { "id": "rs3388717740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717740" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Gly592", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000385", "evidence": [ { "id": "rs3388731779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731779" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Gly59", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148016214", "evidence": [ { "id": "rs3388728179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728179" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Asn605", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000344", "evidence": [ { "id": "rs3388725703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388725703" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Val618", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000306", "evidence": [ { "id": "rs3388730127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730127" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000307", "evidence": [ { "id": "rs3388720076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720076" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Met624", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000289", "evidence": [ { "id": "rs3395205114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395205114" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Tyr629", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148000272", "evidence": [ { "id": "rs3388726101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726101" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Gly680", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "147995324", "evidence": [ { "id": "rs3388733240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733240" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "147995325", "evidence": [ { "id": "rs3388733218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733218" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Leu699", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "147995268", "evidence": [ { "id": "rs3388706406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388706406" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Leu705", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "147995249", "evidence": [ { "id": "rs3388733450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733450" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Gly711", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "147995232", "evidence": [ { "id": "rs3388722612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388722612" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E2-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Lys84", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen development.", "chr_id": "4", "chr_pos": "148016137", "evidence": [ { "id": "rs3388731793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731793" } ] } ] } ], "record_id": "Q9R0E2-1" }, { "uniprot_canonical_ac": "P53811-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 271, "chemical_mass": 31487.0, "gene_names": "Pitpnb;PI-TP-beta;Pitpnb", "protein_name": "Phosphatidylinositol transfer protein beta isoform", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phosphatidylinositol transfer activity", "id": "GO:0008526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008526", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phosphatidylcholine transporter activity", "id": "GO:0008525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008525", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "phosphatidylcholine transfer activity", "id": "GO:0120019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120019", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" }, { "name": "sphingomyelin transfer activity", "id": "GO:0140338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140338", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P53811-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" }, { "database": "iPTMnet", "id": "P53811", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53811" }, { "database": "PubMed", "id": "15164762", "url": "https://glygen.org/publication/PubMed/15164762" }, { "database": "PubMed", "id": "17683809", "url": "https://glygen.org/publication/PubMed/17683809" }, { "database": "PubMed", "id": "11953429", "url": "https://glygen.org/publication/PubMed/11953429" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKC and impairs Golgi targeting; no effect on phospholipid transfer activity.", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" }, { "database": "PubMed", "id": "11953429", "url": "https://glygen.org/publication/PubMed/11953429" } ] } ] }, { "uniprot_canonical_ac": "P53811-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation by PKC; abolishes phospholipid transfer activity.", "evidence": [ { "database": "UniProtKB", "id": "P53811", "url": "https://www.uniprot.org/uniprotkb/P53811" }, { "database": "PubMed", "id": "11953429", "url": "https://glygen.org/publication/PubMed/11953429" } ] } ] } ], "record_id": "P53811-1" }, { "uniprot_canonical_ac": "Q3U6Q4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 756, "chemical_mass": 84663.0, "gene_names": "Pik3r6;Pik3r6;p84 PIKAP;p84;p87(PIKAP);p87PIKAP", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 6", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "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": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "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": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "regulation of natural killer cell mediated cytotoxicity", "id": "GO:0042269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042269", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class IB", "id": "GO:0005944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005944", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex", "id": "GO:0005942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005942", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class IA", "id": "GO:0005943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005943", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" } ], "molecular_function": [ { "name": "1-phosphatidylinositol-3-kinase regulator activity", "id": "GO:0046935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046935", "evidence": [ { "database": "UniProtKB", "id": "Q3U6Q4", "url": "https://www.uniprot.org/uniprotkb/Q3U6Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U6Q4-1" }, { "uniprot_canonical_ac": "Q3USB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1096, "chemical_mass": 122673.0, "gene_names": "Plcl1;C230017K02Rik;PLC-L1;PLC-L;PLCE;PLCL;PLDL1;PRIP-1;PRIP;Plcl1", "protein_name": "Inactive phospholipase C-like protein 1", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" } ], "biological_process": [ { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "phosphatidylinositol-mediated signaling", "id": "GO:0048015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Thr941", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 941, "start_aa": "Thr", "end_pos": 941, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr941", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Ser1080", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3USB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3USB7" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3USB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3USB7" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Ser570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Thr94", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3USB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3USB7" }, { "database": "PubMed", "id": "15306641", "url": "https://glygen.org/publication/PubMed/15306641" }, { "database": "PubMed", "id": "16854455", "url": "https://glygen.org/publication/PubMed/16854455" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased level of phosphorylation. Loss of phosphorylation; when associated with A-96.", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "PubMed", "id": "15306641", "url": "https://glygen.org/publication/PubMed/15306641" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "iPTMnet", "id": "Q3USB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3USB7" }, { "database": "PubMed", "id": "15306641", "url": "https://glygen.org/publication/PubMed/15306641" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased level of phosphorylation. Loss of phosphorylation; when associated with A-94.", "evidence": [ { "database": "UniProtKB", "id": "Q3USB7", "url": "https://www.uniprot.org/uniprotkb/Q3USB7" }, { "database": "PubMed", "id": "15306641", "url": "https://glygen.org/publication/PubMed/15306641" } ] } ] }, { "uniprot_canonical_ac": "Q3USB7-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Asp446", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "1", "chr_pos": "55735996", "evidence": [ { "id": "rs3539206084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539206084" } ] } ] } ], "record_id": "Q3USB7-1" }, { "uniprot_canonical_ac": "Q5RJI4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 53841.0, "gene_names": "Pkdcc;Adtk1;ESTM17;MAd1;Pkdcc;Sgk493;Vlk", "protein_name": "Extracellular tyrosine-protein kinase PKDCC", "disease": [ { "disease_id": "DOID:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "negative regulation of Golgi to plasma membrane protein transport", "id": "GO:0042997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042997", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "Q5RJI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Asn320", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 320, "start_aa": "Asn", "end_pos": 320, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn320", "evidence": [ { "id": "Q5RJI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Asn369", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 369, "start_aa": "Asn", "end_pos": 369, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn369", "evidence": [ { "id": "Q5RJI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Asn400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 400, "start_aa": "Asn", "end_pos": 400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn400", "evidence": [ { "id": "Q5RJI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Asn459", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "Q5RJI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Tyr148", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "19465597", "url": "https://glygen.org/publication/PubMed/19465597" }, { "database": "iPTMnet", "id": "Q5RJI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5RJI4" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Does not affect kinase activity nor secretion to the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "25171405", "url": "https://glygen.org/publication/PubMed/25171405" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "19465597", "url": "https://glygen.org/publication/PubMed/19465597" }, { "database": "iPTMnet", "id": "Q5RJI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5RJI4" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Lys166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Complete loss of kinase activity. Phosphorylation is restored by co-transfection with wild-type protein.", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "25171405", "url": "https://glygen.org/publication/PubMed/25171405" }, { "database": "PubMed", "id": "19465597", "url": "https://glygen.org/publication/PubMed/19465597" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Glu199", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Complete loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "25171405", "url": "https://glygen.org/publication/PubMed/25171405" } ] } ] }, { "uniprot_canonical_ac": "Q5RJI4-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asp295", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Complete loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5RJI4", "url": "https://www.uniprot.org/uniprotkb/Q5RJI4" }, { "database": "PubMed", "id": "25171405", "url": "https://glygen.org/publication/PubMed/25171405" } ] } ] } ], "record_id": "Q5RJI4-1" }, { "uniprot_canonical_ac": "Q80TI1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TI1", "url": "https://www.uniprot.org/uniprotkb/Q80TI1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1356, "chemical_mass": 150909.0, "gene_names": "Plekhh1;D630024D12Rik;Kiaa1200;Plekhh1;mKIAA1200", "protein_name": "Pleckstrin homology domain-containing family H member 1", "disease": [], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q80TI1", "url": "https://www.uniprot.org/uniprotkb/Q80TI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TI1-1", "start_pos": "1153", "end_pos": "1153", "site_lbl": "Thr1153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1153, "start_aa": "Thr", "end_pos": 1153, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1153", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80TI1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 216, "start_aa": "Thr", "end_pos": 216, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr216", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80TI1-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Thr410", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 410, "start_aa": "Thr", "end_pos": 410, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr410", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80TI1-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI1", "url": "https://www.uniprot.org/uniprotkb/Q80TI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI1" } ] } ] }, { "uniprot_canonical_ac": "Q80TI1-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Ser739", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI1", "url": "https://www.uniprot.org/uniprotkb/Q80TI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI1" } ] } ] } ], "record_id": "Q80TI1-1" }, { "uniprot_canonical_ac": "Q80TJ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1023, "chemical_mass": 113553.0, "gene_names": "Phf8;9830141C09Rik;Kiaa1111;Phf8;mKIAA1111", "protein_name": "Histone lysine demethylase PHF8", "disease": [ { "disease_id": "DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 }, { "disease_id": "DOID:0060812", "name": "syndromic X-linked intellectual disability Siderius type", "description": "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0060812", "evidence": [ { "id": "0060812", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060812" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "histone H4K20 demethylase activity", "id": "GO:0035575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035575", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K36 demethylase activity", "id": "GO:0051864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051864", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone demethylase activity", "id": "GO:0032452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032452", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K27me2/H3K27me3 demethylase activity", "id": "GO:0071558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071558", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K9 demethylase activity", "id": "GO:0032454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032454", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K9me/H3K9me2 demethylase activity", "id": "GO:0140683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140683", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K4me3 reader activity", "id": "GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "histone H3K36me/H3K36me2 demethylase activity", "id": "GO:0140680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140680", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "dioxygenase activity", "id": "GO:0051213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "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": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "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": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "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": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" }, { "name": "negative regulation of rDNA heterochromatin formation", "id": "GO:0061188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061188", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Thr863", "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": 863, "start_aa": "Thr", "end_pos": 863, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr863", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q80TJ7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "870", "end_pos": "870", "site_lbl": "Thr870", "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": 870, "start_aa": "Thr", "end_pos": 870, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr870", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q80TJ7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Thr920", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 920, "start_aa": "Thr", "end_pos": 920, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr920", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ser615", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Tyr668", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Thr669", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Thr670", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ser686", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Ser768", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Ser790", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Ser797", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Ser817", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Ser820", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Ser843", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80TJ7-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TJ7", "url": "https://www.uniprot.org/uniprotkb/Q80TJ7" } ] } ] } ], "record_id": "Q80TJ7-1" }, { "uniprot_canonical_ac": "Q8C0Y0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 875, "chemical_mass": 99481.0, "gene_names": "Ppp4r4;8430415E04Rik;Kiaa1622;Pp4r4;Ppp4r4;mKIAA1622", "protein_name": "Serine/threonine-protein phosphatase 4 regulatory subunit 4", "disease": [], "molecular_function": [ { "name": "protein serine/threonine phosphatase inhibitor activity", "id": "GO:0004865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004865", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase complex", "id": "GO:0008287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008287", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" } ], "biological_process": [ { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0Y0-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Ser777", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0Y0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0Y0" } ] } ] }, { "uniprot_canonical_ac": "Q8C0Y0-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Thr799", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0Y0", "url": "https://www.uniprot.org/uniprotkb/Q8C0Y0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0Y0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0Y0" } ] } ] } ], "record_id": "Q8C0Y0-1" }, { "uniprot_canonical_ac": "Q8CHE4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1687, "chemical_mass": 182367.0, "gene_names": "Phlpp1;Kiaa0606;Phlpp1;Phlpp;Plekhe1;SCOP;Scop;mKIAA0606", "protein_name": "PH domain leucine-rich repeat-containing protein phosphatase 1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of p38MAPK cascade", "id": "GO:1900744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900744", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "negative regulation of intracellular signal transduction", "id": "GO:1902532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902532", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "regulation of T cell anergy", "id": "GO:0002667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002667", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "entrainment of circadian clock", "id": "GO:0009649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009649", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "regulation of JNK cascade", "id": "GO:0046328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046328", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHE4-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ] } ] }, { "uniprot_canonical_ac": "Q8CHE4-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHE4", "url": "https://www.uniprot.org/uniprotkb/Q8CHE4" } ] } ] } ], "record_id": "Q8CHE4-1" }, { "uniprot_canonical_ac": "Q9D4F2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 292, "chemical_mass": 31744.0, "gene_names": "Plpp6;4932443D16Rik;Plpp6;Ppapdc2", "protein_name": "Polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6", "disease": [], "molecular_function": [ { "name": "lysophosphatidic acid phosphatase activity", "id": "GO:0052642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052642", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "phosphatidate phosphatase activity", "id": "GO:0008195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008195", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "lipid phosphatase activity", "id": "GO:0042577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042577", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "sphingosine-1-phosphate phosphatase activity", "id": "GO:0042392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042392", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "isoprenoid diphosphate phosphatase activity", "id": "GO:0106405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106405", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "farnesyl diphosphatase activity", "id": "GO:0120557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120557", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of endoplasmic reticulum membrane", "id": "GO:0098554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098554", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "isoprenoid metabolic process", "id": "GO:0006720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006720", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "protein prenylation", "id": "GO:0018342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018342", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "phospholipid dephosphorylation", "id": "GO:0046839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046839", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "positive regulation of neutrophil activation", "id": "GO:1902565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902565", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "geranyl diphosphate metabolic process", "id": "GO:0033383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033383", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "farnesyl diphosphate catabolic process", "id": "GO:0045339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045339", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" }, { "name": "geranylgeranyl diphosphate catabolic process", "id": "GO:1902247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902247", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D4F2-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" } ] } ] }, { "uniprot_canonical_ac": "Q9D4F2-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4F2", "url": "https://www.uniprot.org/uniprotkb/Q9D4F2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PRO", "id": "Q9D4F2", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9D4F2" }, { "database": "iPTMnet", "id": "Q9D4F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D4F2" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] } ], "record_id": "Q9D4F2-1" }, { "uniprot_canonical_ac": "Q9JK95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 193, "chemical_mass": 21567.0, "gene_names": "Perp;1110017A08Rik;KCP1;KRTCAP1;Krtcap1;PIGPC1;Perp;THW", "protein_name": "p53 apoptosis effector related to PMP-22", "disease": [ { "disease_id": "DOID:0050467", "name": "erythrokeratodermia variabilis", "description": "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.", "url": "https://disease-ontology.org/term/DOID:0050467", "evidence": [ { "id": "0050467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050467" } ], "weight": 0.0 }, { "disease_id": "DOID:0112011", "name": "mutilating palmoplantar keratoderma with periorificial keratotic plaques", "description": "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.", "url": "https://disease-ontology.org/term/DOID:0112011", "evidence": [ { "id": "0112011", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112011" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mammary gland duct morphogenesis", "id": "GO:0060603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "positive regulation of T cell apoptotic process", "id": "GO:0070234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070234", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "Q9JK95", "url": "https://www.uniprot.org/uniprotkb/Q9JK95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JK95-1" }, { "uniprot_canonical_ac": "Q9WTU0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1096, "chemical_mass": 120814.0, "gene_names": "Phf2;GRC5;Kiaa0662;Phf2", "protein_name": "Lysine-specific demethylase PHF2", "disease": [ { "disease_id": "DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "histone H4K20 demethylase activity", "id": "GO:0035575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035575", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "histone demethylase activity", "id": "GO:0032452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032452", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "histone H3K9 demethylase activity", "id": "GO:0032454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032454", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "histone H3K4me3 reader activity", "id": "GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "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": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "protein demethylation", "id": "GO:0006482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006482", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" }, { "name": "negative regulation of rDNA heterochromatin formation", "id": "GO:0061188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061188", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31967MM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PASANISLYER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 277, "start_aa": "Asn", "end_pos": 277, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn277", "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": "Q9WTU0-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 76, "start_aa": "Thr", "end_pos": 76, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr76", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "1057", "end_pos": "1057", "site_lbl": "Ser1057", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ser474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Thr479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Ser536", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Ser701", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Tyr724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ser726", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Ser730", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Ser734", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ser873", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "876", "end_pos": "876", "site_lbl": "Ser876", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] }, { "uniprot_canonical_ac": "Q9WTU0-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Ser893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprotkb/Q9WTU0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTU0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTU0" } ] } ] } ], "record_id": "Q9WTU0-1" }, { "uniprot_canonical_ac": "Q8BWM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 384, "chemical_mass": 43324.0, "gene_names": "Ptges2;0610038H10Rik;Gbf1;Mpges2;Pges2;Ptges2", "protein_name": "Prostaglandin E synthase 2", "disease": [], "molecular_function": [ { "name": "glutathione binding", "id": "GO:0043295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043295", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "prostaglandin-E synthase activity", "id": "GO:0050220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050220", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "12-hydroxyheptadecatrienoic acid synthase activity", "id": "GO:0036134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036134", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "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": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "cyclooxygenase pathway", "id": "GO:0019371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019371", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" }, { "name": "secretion", "id": "GO:0046903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046903", "evidence": [ { "database": "UniProtKB", "id": "Q8BWM0", "url": "https://www.uniprot.org/uniprotkb/Q8BWM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWM0-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asn162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KVPILVAQEGDSLQQLNDSSVIISALK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "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" } ] } ] } ], "record_id": "Q8BWM0-1" }, { "uniprot_canonical_ac": "B2RXS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1842, "chemical_mass": 206230.0, "gene_names": "Plxnb2;Debt;Plxnb2;plexin-B2", "protein_name": "Plexin-B2", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "semaphorin receptor complex", "id": "GO:0002116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002116", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" } ], "biological_process": [ { "name": "excitatory synapse assembly", "id": "GO:1904861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904861", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "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": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "regulation of GTPase activity", "id": "GO:0043087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043087", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "regulation of neuron migration", "id": "GO:2001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "semaphorin receptor activity", "id": "GO:0017154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017154", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1005", "end_pos": "1005", "site_lbl": "Asn1005", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1005, "start_aa": "Asn", "end_pos": 1005, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1005", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SINVTGQGFSLIQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1005, "start_aa": "Asn", "end_pos": 1005, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1005", "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": "B2RXS4-1", "start_pos": "1053", "end_pos": "1053", "site_lbl": "Asn1053", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1053, "start_aa": "Asn", "end_pos": 1053, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1053", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G30970QQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VTVEGMEYVFYNDTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1053, "start_aa": "Asn", "end_pos": 1053, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1053", "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" } ] }, { "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": 1053, "start_aa": "Asn", "end_pos": 1053, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1053", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->IDT).", "chr_id": "15", "chr_pos": "89045287", "evidence": [ { "id": "rs3389381195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389381195" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1072", "end_pos": "1072", "site_lbl": "Asn1072", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1072, "start_aa": "Asn", "end_pos": 1072, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1072", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1072, "start_aa": "Asn", "end_pos": 1072, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1072", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G28681TP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVFLSPAVPEEPEAYNLTVLIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1072, "start_aa": "Asn", "end_pos": 1072, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1072", "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" } ] }, { "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": 1072, "start_aa": "Asn", "end_pos": 1072, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1072", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1103", "end_pos": "1103", "site_lbl": "Asn1103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1103, "start_aa": "Asn", "end_pos": 1103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1103", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G36379GD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TEAGVFEYVADPTFENFTGGVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1103, "start_aa": "Asn", "end_pos": 1103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1103", "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": "B2RXS4-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asn127", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AMSNISVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "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" } ] }, { "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asn242", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 242, "start_aa": "Asn", "end_pos": 242, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Asn393", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GGLNLTAVTVTAENDHTVAFLGTSDGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "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" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "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": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Asn451", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45504EY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QDLALSGNLSSLYAMTQDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 451, "start_aa": "Asn", "end_pos": 451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "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" } ] }, { "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": 451, "start_aa": "Asn", "end_pos": 451, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Asn530", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01650EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SCVAITDAFPQNMSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "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": "B2RXS4-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "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": 622, "start_aa": "Ser", "end_pos": 622, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser622", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "B2RXS4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=B2RXS4" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Asn735", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G60145BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSHDGNETLPLHLYVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "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" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 735, "start_aa": "Asn", "end_pos": 735, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn735", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->KET).", "chr_id": "15", "chr_pos": "89047190", "evidence": [ { "id": "rs3389382028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382028" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Asn761", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G13144LI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQVTLYNCSFGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "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" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 761, "start_aa": "Asn", "end_pos": 761, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn761", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2594", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Asn798", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G60667HJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVYEALCSNVTSECPPPVITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 798, "start_aa": "Asn", "end_pos": 798, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn798", "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" } ] }, { "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": 798, "start_aa": "Asn", "end_pos": 798, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn798", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "15", "chr_pos": "89046927", "evidence": [ { "id": "rs31808964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31808964" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "919", "end_pos": "919", "site_lbl": "Asn919", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G68490OW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QGPQAGGTTLTINGTHLDTGSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 919, "start_aa": "Asn", "end_pos": 919, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn919", "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" } ] }, { "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": 919, "start_aa": "Asn", "end_pos": 919, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn919", "evidence": [ { "id": "B2RXS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2RXS4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Ser1240", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "B2RXS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RXS4" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1248", "end_pos": "1248", "site_lbl": "Ser1248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "B2RXS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RXS4" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1574", "end_pos": "1574", "site_lbl": "Ser1574", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RXS4", "url": "https://www.uniprot.org/uniprotkb/B2RXS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RXS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RXS4" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Thr1055", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDN).", "chr_id": "15", "chr_pos": "89045281", "evidence": [ { "id": "rs3389332696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389332696" } ] } ] }, { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Lys729", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "15", "chr_pos": "89047481", "evidence": [ { "id": "rs3389351763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389351763" } ] } ] } ], "record_id": "B2RXS4-1" }, { "uniprot_canonical_ac": "P05622-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1098, "chemical_mass": 122790.0, "gene_names": "Pdgfrb;CD140b;PDGFR-1;Pdgfr1;Pdgfrb;Pdgfr", "protein_name": "Platelet-derived growth factor receptor beta", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060230", "name": "basal ganglia calcification", "description": "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.", "url": "https://disease-ontology.org/term/DOID:0060230", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ], "weight": 0.0 }, { "disease_id": "DOID:0070666", "name": "infantile myofibromatosis 1", "description": "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.", "url": "https://disease-ontology.org/term/DOID:0070666", "evidence": [ { "id": "0070666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070666" } ], "weight": 0.0 }, { "disease_id": "DOID:0080109", "name": "infantile myofibromatosis", "description": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.", "url": "https://disease-ontology.org/term/DOID:0080109", "evidence": [ { "id": "0080109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080109" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12215", "name": "oligohydramnios", "description": "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.", "url": "https://disease-ontology.org/term/DOID:12215", "evidence": [ { "id": "12215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12215" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "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: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: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:3594", "name": "choriocarcinoma", "description": "A placenta cancer that has_material_basis_in trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3594", "evidence": [ { "id": "3594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3594" } ], "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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:8946", "name": "severe nonproliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8946", "evidence": [ { "id": "8946", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8946" } ], "weight": 0.0 } ], "biological_process": [ { "name": "metanephric glomerular mesangium development", "id": "GO:0072223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072223", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:0035791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035791", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway", "id": "GO:0038091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038091", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric glomerular capillary formation", "id": "GO:0072277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072277", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell migration involved in vasculogenesis", "id": "GO:0035441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035441", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric mesenchymal cell migration", "id": "GO:0035789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035789", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "lung growth", "id": "GO:0060437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060437", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell migration involved in coronary angiogenesis", "id": "GO:0060981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060981", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric glomerular mesangial cell proliferation involved in metanephros development", "id": "GO:0072262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072262", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell differentiation", "id": "GO:0060947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060947", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "smooth muscle cell chemotaxis", "id": "GO:0071670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071670", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:0035793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035793", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "response to ceramide", "id": "GO:0106096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106096", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" } ], "molecular_function": [ { "name": "platelet-derived growth factor receptor binding", "id": "GO:0005161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005161", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor activity", "id": "GO:0005017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005017", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "vascular endothelial growth factor binding", "id": "GO:0038085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038085", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor beta-receptor activity", "id": "GO:0005019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005019", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "phospholipase C activator activity", "id": "GO:0160185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160185", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P05622-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Asn102", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Thr123", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 123, "start_aa": "Thr", "end_pos": 123, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr123", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G32392SM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVDSDTYYVYSLQVSSINVSVNAVQTVVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 214, "start_aa": "Asn", "end_pos": 214, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn214", "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" } ] }, { "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": 214, "start_aa": "Asn", "end_pos": 214, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn214", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Asn291", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGSILHIPTAELSDSGTYTCNVSVSVNDHGDEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 291, "start_aa": "Asn", "end_pos": 291, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn291", "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" } ] }, { "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": 291, "start_aa": "Asn", "end_pos": 291, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn291", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Asn306", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AINISVIENGYVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 306, "start_aa": "Asn", "end_pos": 306, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn306", "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" } ] }, { "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": 306, "start_aa": "Asn", "end_pos": 306, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn306", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Asn353", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TLGDSGAGELVLSTRNMSETR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "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" } ] }, { "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": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Asn444", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GMPQPNVTWSTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "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" } ] }, { "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": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Asn467", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G60834IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLSPTPLGNSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 467, "start_aa": "Asn", "end_pos": 467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn467", "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" } ] }, { "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": 467, "start_aa": "Asn", "end_pos": 467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn467", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Asn478", "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": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Asn88", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "P05622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05622#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "1008", "end_pos": "1008", "site_lbl": "Tyr1008", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "8041791", "url": "https://glygen.org/publication/PubMed/8041791" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-715; F-739; F-750; F-770 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "1020", "end_pos": "1020", "site_lbl": "Tyr1020", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-715; F-739; F-750; F-770 and F-1008.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Tyr561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Tyr578", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "7730365", "url": "https://glygen.org/publication/PubMed/7730365" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-715; F-739; F-750; F-770; F-1008 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Tyr580", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Tyr685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "14993293", "url": "https://glygen.org/publication/PubMed/14993293" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Tyr715", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-739; F-750; F-770; F-1008 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Tyr739", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "10644978", "url": "https://glygen.org/publication/PubMed/10644978" }, { "database": "PubMed", "id": "7730365", "url": "https://glygen.org/publication/PubMed/7730365" }, { "database": "PubMed", "id": "19742316", "url": "https://glygen.org/publication/PubMed/19742316" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-715; F-750; F-770; F-1008 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Tyr750", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "18515860", "url": "https://glygen.org/publication/PubMed/18515860" }, { "database": "PubMed", "id": "7730365", "url": "https://glygen.org/publication/PubMed/7730365" }, { "database": "PubMed", "id": "19742316", "url": "https://glygen.org/publication/PubMed/19742316" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-715; F-739; F-770; F-1008 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Tyr762", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "18515860", "url": "https://glygen.org/publication/PubMed/18515860" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Tyr770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced levels of vascular smooth muscle cells and pericytes in developing blood vessels; when associated with F-578; F-715; F-739; F-750; F-1008 and F-1020.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "14624252", "url": "https://glygen.org/publication/PubMed/14624252" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Tyr774", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Tyr777", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "IntAct", "id": "P05622", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05622*" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "18515860", "url": "https://glygen.org/publication/PubMed/18515860" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Tyr856", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "933", "end_pos": "933", "site_lbl": "Tyr933", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "14993293", "url": "https://glygen.org/publication/PubMed/14993293" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Tyr969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "iPTMnet", "id": "P05622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05622" }, { "database": "PubMed", "id": "14993293", "url": "https://glygen.org/publication/PubMed/14993293" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ile45", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "18", "chr_pos": "61194370", "evidence": [ { "id": "rs3389453798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453798" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSP).", "chr_id": "18", "chr_pos": "61201857", "evidence": [ { "id": "rs3389517899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517899" } ] } ] }, { "uniprot_canonical_ac": "P05622-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Asp849", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Increased autophosphorylation in the absence of PDGFB binding. Increased autophosphorylation in response to PDGFB binding. Constitutive interaction with PIK3R1, and constitutive AKT1 activation.", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" }, { "database": "PubMed", "id": "15284236", "url": "https://glygen.org/publication/PubMed/15284236" } ] } ] } ], "record_id": "P05622-1" }, { "uniprot_canonical_ac": "O08852-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4293, "chemical_mass": 466577.0, "gene_names": "Pkd1;PC1;Pkd1;mFLJ00285", "protein_name": "Polycystin-1", "disease": [ { "disease_id": "DOID:0050770", "name": "polycystic liver disease", "description": "A liver disease that is characterized by the presence of multiple cysts located_in the liver.", "url": "https://disease-ontology.org/term/DOID:0050770", "evidence": [ { "id": "0050770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050770" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0110858", "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 } ], "biological_process": [ { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "lymph vessel morphogenesis", "id": "GO:0036303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036303", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "metanephric ascending thin limb development", "id": "GO:0072218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072218", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "metanephric proximal tubule development", "id": "GO:0072237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072237", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "metanephric distal tubule morphogenesis", "id": "GO:0072287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072287", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "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": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "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": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "protein heterotetramerization", "id": "GO:0051290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051290", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of mitotic spindle organization", "id": "GO:0060236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060236", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "detection of mechanical stimulus", "id": "GO:0050982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050982", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "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": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "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": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "mesonephric duct development", "id": "GO:0072177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072177", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "branching involved in lymph vessel morphogenesis", "id": "GO:0060854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060854", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "mitocytosis", "id": "GO:0160040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160040", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "nitrogen cycle metabolic process", "id": "GO:0071941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071941", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "polycystin complex", "id": "GO:0002133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002133", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "migrasome", "id": "GO:0140494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140494", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08852-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Asn1004", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1004, "start_aa": "Asn", "end_pos": 1004, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1004", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1028", "end_pos": "1028", "site_lbl": "Asn1028", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1028, "start_aa": "Asn", "end_pos": 1028, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1028", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1075", "end_pos": "1075", "site_lbl": "Thr1075", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1075, "start_aa": "Thr", "end_pos": 1075, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1075", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791029", "evidence": [ { "id": "rs3389450987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450987" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1084", "end_pos": "1084", "site_lbl": "Asn1084", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1084, "start_aa": "Asn", "end_pos": 1084, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1084", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1096", "end_pos": "1096", "site_lbl": "Asn1096", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1096, "start_aa": "Asn", "end_pos": 1096, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1096", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Asn1107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1107, "start_aa": "Asn", "end_pos": 1107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1107", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Asn116", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Asn1172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1172, "start_aa": "Asn", "end_pos": 1172, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1172", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1188", "end_pos": "1188", "site_lbl": "Asn1188", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ITLEVNNTVSSVTAHADIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1188, "start_aa": "Asn", "end_pos": 1188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1188", "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" } ] }, { "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": 1188, "start_aa": "Asn", "end_pos": 1188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1188", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asn121", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 121, "start_aa": "Asn", "end_pos": 121, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn121", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1234", "end_pos": "1234", "site_lbl": "Asn1234", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1234, "start_aa": "Asn", "end_pos": 1234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1234", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1263", "end_pos": "1263", "site_lbl": "Asn1263", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1263, "start_aa": "Asn", "end_pos": 1263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1263", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1330", "end_pos": "1330", "site_lbl": "Asn1330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1330, "start_aa": "Asn", "end_pos": 1330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1330", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1342", "end_pos": "1342", "site_lbl": "Asn1342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1342, "start_aa": "Asn", "end_pos": 1342, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1342", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Asn1376", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NITLQPER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1376, "start_aa": "Asn", "end_pos": 1376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1376", "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" } ] }, { "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": 1376, "start_aa": "Asn", "end_pos": 1376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1376", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1444", "end_pos": "1444", "site_lbl": "Asn1444", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1444, "start_aa": "Asn", "end_pos": 1444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1444", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1449", "end_pos": "1449", "site_lbl": "Asn1449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1449, "start_aa": "Asn", "end_pos": 1449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1449", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1468", "end_pos": "1468", "site_lbl": "Asn1468", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1468, "start_aa": "Asn", "end_pos": 1468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1468", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Asn1535", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SEAQLNITVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1535, "start_aa": "Asn", "end_pos": 1535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1535", "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" } ] }, { "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": 1535, "start_aa": "Asn", "end_pos": 1535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1535", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1548", "end_pos": "1548", "site_lbl": "Asn1548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLTINASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1548, "start_aa": "Asn", "end_pos": 1548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1548", "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" } ] }, { "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": 1548, "start_aa": "Asn", "end_pos": 1548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1548", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1557", "end_pos": "1557", "site_lbl": "Asn1557", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1557, "start_aa": "Asn", "end_pos": 1557, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1557", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1590", "end_pos": "1590", "site_lbl": "Thr1590", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1590, "start_aa": "Thr", "end_pos": 1590, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1590", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1643", "end_pos": "1643", "site_lbl": "Asn1643", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1643, "start_aa": "Asn", "end_pos": 1643, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1643", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1657", "end_pos": "1657", "site_lbl": "Asn1657", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1657, "start_aa": "Asn", "end_pos": 1657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1657", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1706", "end_pos": "1706", "site_lbl": "Asn1706", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1706, "start_aa": "Asn", "end_pos": 1706, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1706", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1730", "end_pos": "1730", "site_lbl": "Asn1730", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1730, "start_aa": "Asn", "end_pos": 1730, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1730", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1788", "end_pos": "1788", "site_lbl": "Asn1788", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1788, "start_aa": "Asn", "end_pos": 1788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1788", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1831", "end_pos": "1831", "site_lbl": "Asn1831", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1831, "start_aa": "Asn", "end_pos": 1831, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1831", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1863", "end_pos": "1863", "site_lbl": "Asn1863", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1863, "start_aa": "Asn", "end_pos": 1863, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1863", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1876", "end_pos": "1876", "site_lbl": "Asn1876", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1876, "start_aa": "Asn", "end_pos": 1876, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1876", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Asn187", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 187, "start_aa": "Asn", "end_pos": 187, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn187", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1987", "end_pos": "1987", "site_lbl": "Asn1987", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1987, "start_aa": "Asn", "end_pos": 1987, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1987", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2046", "end_pos": "2046", "site_lbl": "Asn2046", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2046, "start_aa": "Asn", "end_pos": 2046, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2046", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2070", "end_pos": "2070", "site_lbl": "Asn2070", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2070, "start_aa": "Asn", "end_pos": 2070, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2070", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2121", "end_pos": "2121", "site_lbl": "Asn2121", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2121, "start_aa": "Asn", "end_pos": 2121, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2121", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2244", "end_pos": "2244", "site_lbl": "Asn2244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SIQANVTVAAER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2244, "start_aa": "Asn", "end_pos": 2244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2244", "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" } ] }, { "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": 2244, "start_aa": "Asn", "end_pos": 2244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2244", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2349", "end_pos": "2349", "site_lbl": "Asn2349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KEEATNQTVLIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2349, "start_aa": "Asn", "end_pos": 2349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2349", "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" } ] }, { "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": 2349, "start_aa": "Asn", "end_pos": 2349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2349", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2391", "end_pos": "2391", "site_lbl": "Asn2391", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SSYVYLEGHCHNCSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2391, "start_aa": "Asn", "end_pos": 2391, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2391", "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" } ] }, { "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": 2391, "start_aa": "Asn", "end_pos": 2391, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2391", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Asn239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2408", "end_pos": "2408", "site_lbl": "Asn2408", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2408, "start_aa": "Asn", "end_pos": 2408, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2408", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2414", "end_pos": "2414", "site_lbl": "Asn2414", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2414, "start_aa": "Asn", "end_pos": 2414, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2414", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2563", "end_pos": "2563", "site_lbl": "Asn2563", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2563, "start_aa": "Asn", "end_pos": 2563, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2563", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2640", "end_pos": "2640", "site_lbl": "Asn2640", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KNITETLISLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2640, "start_aa": "Asn", "end_pos": 2640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2640", "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" } ] }, { "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": 2640, "start_aa": "Asn", "end_pos": 2640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2640", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2713", "end_pos": "2713", "site_lbl": "Asn2713", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2713, "start_aa": "Asn", "end_pos": 2713, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2713", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2749", "end_pos": "2749", "site_lbl": "Asn2749", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AYNLSSALMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2749, "start_aa": "Asn", "end_pos": 2749, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2749", "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" } ] }, { "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": 2749, "start_aa": "Asn", "end_pos": 2749, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2749", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2813", "end_pos": "2813", "site_lbl": "Asn2813", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2813, "start_aa": "Asn", "end_pos": 2813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2813", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2836", "end_pos": "2836", "site_lbl": "Asn2836", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2836, "start_aa": "Asn", "end_pos": 2836, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2836", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2873", "end_pos": "2873", "site_lbl": "Asn2873", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2873, "start_aa": "Asn", "end_pos": 2873, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2873", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2948", "end_pos": "2948", "site_lbl": "Asn2948", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2948, "start_aa": "Asn", "end_pos": 2948, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2948", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2986", "end_pos": "2986", "site_lbl": "Asn2986", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2986, "start_aa": "Asn", "end_pos": 2986, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2986", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3627", "end_pos": "3627", "site_lbl": "Thr3627", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3627, "start_aa": "Thr", "end_pos": 3627, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3627", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3728", "end_pos": "3728", "site_lbl": "Asn3728", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3728, "start_aa": "Asn", "end_pos": 3728, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3728", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQS->YQS); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811640", "evidence": [ { "id": "rs3389456209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456209" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3780", "end_pos": "3780", "site_lbl": "Asn3780", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3780, "start_aa": "Asn", "end_pos": 3780, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3780", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Asn627", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQVYRPSGGAAAVPEGSSEPDNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "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" } ] }, { "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": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Asn662", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 662, "start_aa": "Asn", "end_pos": 662, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn662", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Asn740", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 740, "start_aa": "Asn", "end_pos": 740, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn740", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Asn804", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QNLSCSFSVVSPIAGLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 804, "start_aa": "Asn", "end_pos": 804, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn804", "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" } ] }, { "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": 804, "start_aa": "Asn", "end_pos": 804, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn804", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Asn835", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 835, "start_aa": "Asn", "end_pos": 835, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn835", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Asn848", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 848, "start_aa": "Asn", "end_pos": 848, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn848", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Asn859", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 859, "start_aa": "Asn", "end_pos": 859, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn859", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Asn884", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 884, "start_aa": "Asn", "end_pos": 884, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn884", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Asn915", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LKEGDHTVEIVAQNGASQANLSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 915, "start_aa": "Asn", "end_pos": 915, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn915", "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" } ] }, { "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": 915, "start_aa": "Asn", "end_pos": 915, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn915", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "998", "end_pos": "998", "site_lbl": "Asn998", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 998, "start_aa": "Asn", "end_pos": 998, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn998", "evidence": [ { "id": "O08852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4156", "end_pos": "4156", "site_lbl": "Ser4156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Asp1159", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGS->NGS); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791789", "evidence": [ { "id": "rs3389442027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442027" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1857", "end_pos": "1857", "site_lbl": "Ser1857", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SFS->NFS); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793884", "evidence": [ { "id": "rs217242917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217242917" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2122", "end_pos": "2122", "site_lbl": "Ala2122", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->NPT); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794678", "evidence": [ { "id": "rs864279537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864279537" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Ser808", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SFS->NFS); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788666", "evidence": [ { "id": "rs3389438223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438223" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGT->NGI); glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788900", "evidence": [ { "id": "rs3389438262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438262" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1005", "end_pos": "1005", "site_lbl": "Val1005", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790540", "evidence": [ { "id": "rs3389433500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433500" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783324", "evidence": [ { "id": "rs3389433571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433571" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Arg102", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783327", "evidence": [ { "id": "rs3406589151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589151" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Ala1032", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790621", "evidence": [ { "id": "rs3389442016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442016" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Ala1042", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790652", "evidence": [ { "id": "rs3389441997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441997" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Glu1044", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806265", "evidence": [ { "id": "rs3389441977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441977" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Glu1055", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790970", "evidence": [ { "id": "rs3389353635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353635" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1068", "end_pos": "1068", "site_lbl": "Ser1068", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806644", "evidence": [ { "id": "rs3407418924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418924" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Leu1080", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791044", "evidence": [ { "id": "rs47376736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47376736" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1117", "end_pos": "1117", "site_lbl": "Arg1117", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791664", "evidence": [ { "id": "rs3389420135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420135" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Phe111", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783354", "evidence": [ { "id": "rs3389438207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438207" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Phe1140", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791732", "evidence": [ { "id": "rs3389433244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433244" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Gln1168", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791817", "evidence": [ { "id": "rs3389433214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433214" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "Val1170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809839", "evidence": [ { "id": "rs107828289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107828289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1180", "end_pos": "1180", "site_lbl": "Ala1180", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791852", "evidence": [ { "id": "rs33501677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33501677" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Phe1203", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791923", "evidence": [ { "id": "rs3389389153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389153" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1231", "end_pos": "1231", "site_lbl": "Ser1231", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792006", "evidence": [ { "id": "rs3389441965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441965" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Val1266", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792110", "evidence": [ { "id": "rs3389439313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439313" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Glu128", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783575", "evidence": [ { "id": "rs3389399250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399250" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "His1292", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792189", "evidence": [ { "id": "rs33423434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33423434" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1302", "end_pos": "1302", "site_lbl": "Gln1302", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792218", "evidence": [ { "id": "rs3389456160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456160" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Pro1315", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792258", "evidence": [ { "id": "rs3389456174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456174" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1331", "end_pos": "1331", "site_lbl": "Val1331", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792306", "evidence": [ { "id": "rs3389420206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420206" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1358", "end_pos": "1358", "site_lbl": "His1358", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792387", "evidence": [ { "id": "rs3389446704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1365", "end_pos": "1365", "site_lbl": "Phe1365", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792409", "evidence": [ { "id": "rs3389353704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1400", "end_pos": "1400", "site_lbl": "Pro1400", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792512", "evidence": [ { "id": "rs3389439320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439320" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1429", "end_pos": "1429", "site_lbl": "Tyr1429", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792601", "evidence": [ { "id": "rs3389399326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399326" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Gln1477", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792743", "evidence": [ { "id": "rs3389353634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353634" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Pro1489", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792779", "evidence": [ { "id": "rs3389443161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443161" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Leu1496", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792800", "evidence": [ { "id": "rs3389433251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433251" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1506", "end_pos": "1506", "site_lbl": "Glu1506", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792830", "evidence": [ { "id": "rs3389409259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409259" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1528", "end_pos": "1528", "site_lbl": "Ser1528", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792896", "evidence": [ { "id": "rs3389434089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434089" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1561", "end_pos": "1561", "site_lbl": "Ser1561", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792997", "evidence": [ { "id": "rs3389389164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389164" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1565", "end_pos": "1565", "site_lbl": "Leu1565", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793007", "evidence": [ { "id": "rs3389434125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434125" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1577", "end_pos": "1577", "site_lbl": "Val1577", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793043", "evidence": [ { "id": "rs3389434086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434086" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1586", "end_pos": "1586", "site_lbl": "Pro1586", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793070", "evidence": [ { "id": "rs3389434122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434122" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1588", "end_pos": "1588", "site_lbl": "Gly1588", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793076", "evidence": [ { "id": "rs3389442005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442005" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1609", "end_pos": "1609", "site_lbl": "Asn1609", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "IQL*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793139_24793140insTACAGCTGTAACCACAGC", "evidence": [ { "id": "rs3407848155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848155" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Leu1629", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793200", "evidence": [ { "id": "rs3389389161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389161" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1632", "end_pos": "1632", "site_lbl": "Ala1632", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793209", "evidence": [ { "id": "rs29516184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29516184" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1658", "end_pos": "1658", "site_lbl": "Ile1658", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793287", "evidence": [ { "id": "rs3389433553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433553" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1684", "end_pos": "1684", "site_lbl": "Ser1684", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793364", "evidence": [ { "id": "rs33598741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33598741" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1701", "end_pos": "1701", "site_lbl": "Gly1701", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793415", "evidence": [ { "id": "rs3389450991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450991" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1723", "end_pos": "1723", "site_lbl": "Ser1723", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793482", "evidence": [ { "id": "rs3389433486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433486" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1743", "end_pos": "1743", "site_lbl": "Ser1743", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793542", "evidence": [ { "id": "rs3389443125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443125" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1761", "end_pos": "1761", "site_lbl": "Met1761", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793595", "evidence": [ { "id": "rs3389389071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389071" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1768", "end_pos": "1768", "site_lbl": "Phe1768", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793617", "evidence": [ { "id": "rs3389443134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443134" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ala1770", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793622", "evidence": [ { "id": "rs48866526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48866526" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1805", "end_pos": "1805", "site_lbl": "Arg1805", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793728", "evidence": [ { "id": "rs47072433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47072433" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Pro1839", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793829", "evidence": [ { "id": "rs3389443149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443149" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1845", "end_pos": "1845", "site_lbl": "Ser1845", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793848", "evidence": [ { "id": "rs3389420217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420217" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Leu184", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784005", "evidence": [ { "id": "rs3389353665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353665" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1881", "end_pos": "1881", "site_lbl": "Glu1881", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793955", "evidence": [ { "id": "rs3389451006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451006" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Gly190", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797169", "evidence": [ { "id": "rs3389443131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443131" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784023", "evidence": [ { "id": "rs240140382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240140382" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1954", "end_pos": "1954", "site_lbl": "His1954", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794176", "evidence": [ { "id": "rs3389439325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439325" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1977", "end_pos": "1977", "site_lbl": "Glu1977", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794243", "evidence": [ { "id": "rs3389420172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420172" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1993", "end_pos": "1993", "site_lbl": "Gln1993", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794291", "evidence": [ { "id": "rs3389432244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432244" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2003", "end_pos": "2003", "site_lbl": "Tyr2003", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794322", "evidence": [ { "id": "rs3389438215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438215" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2009", "end_pos": "2009", "site_lbl": "Val2009", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794339", "evidence": [ { "id": "rs3389443148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443148" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2020", "end_pos": "2020", "site_lbl": "Arg2020", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794373", "evidence": [ { "id": "rs3389389152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389152" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2037", "end_pos": "2037", "site_lbl": "Arg2037", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794423", "evidence": [ { "id": "rs3389433507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433507" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Asn2040", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794433", "evidence": [ { "id": "rs3407162822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162822" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2041", "end_pos": "2041", "site_lbl": "Glu2041", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794435", "evidence": [ { "id": "rs3406589133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589133" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2049", "end_pos": "2049", "site_lbl": "Leu2049", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794460", "evidence": [ { "id": "rs3407848136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848136" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2062", "end_pos": "2062", "site_lbl": "Leu2062", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794499", "evidence": [ { "id": "rs3412986841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412986841" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2085", "end_pos": "2085", "site_lbl": "Arg2085", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794567", "evidence": [ { "id": "rs33197616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33197616" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2099", "end_pos": "2099", "site_lbl": "Gln2099", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794610", "evidence": [ { "id": "rs3389432306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432306" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Gly20", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24769295", "evidence": [ { "id": "rs107641960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107641960" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2108", "end_pos": "2108", "site_lbl": "His2108", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794638", "evidence": [ { "id": "rs3389420212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420212" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2110", "end_pos": "2110", "site_lbl": "Tyr2110", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794642", "evidence": [ { "id": "rs3389389094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389094" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806644", "evidence": [ { "id": "rs3407418924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418924" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806658", "evidence": [ { "id": "rs3407348903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348903" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806660", "evidence": [ { "id": "rs3407418946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418946" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2224", "end_pos": "2224", "site_lbl": "Tyr2224", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794984", "evidence": [ { "id": "rs3389456162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456162" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2232", "end_pos": "2232", "site_lbl": "Phe2232", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795008", "evidence": [ { "id": "rs3389409296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409296" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2235", "end_pos": "2235", "site_lbl": "Thr2235", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795018", "evidence": [ { "id": "rs3389354204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354204" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2238", "end_pos": "2238", "site_lbl": "Ala2238", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795026", "evidence": [ { "id": "rs3389432254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432254" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2239", "end_pos": "2239", "site_lbl": "Arg2239", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795029", "evidence": [ { "id": "rs3406589139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589139" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2242", "end_pos": "2242", "site_lbl": "Gln2242", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795040", "evidence": [ { "id": "rs3405714451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405714451" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795039", "evidence": [ { "id": "rs3407430253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407430253" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2250", "end_pos": "2250", "site_lbl": "Glu2250", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795063", "evidence": [ { "id": "rs3389420227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420227" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784129", "evidence": [ { "id": "rs3389353656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353656" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2286", "end_pos": "2286", "site_lbl": "Asp2286", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795171", "evidence": [ { "id": "rs3389354283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354283" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2312", "end_pos": "2312", "site_lbl": "Gly2312", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795443", "evidence": [ { "id": "rs3389389103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389103" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2317", "end_pos": "2317", "site_lbl": "Ser2317", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795459", "evidence": [ { "id": "rs3389443113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443113" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2334", "end_pos": "2334", "site_lbl": "Phe2334", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795509", "evidence": [ { "id": "rs3389456143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456143" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Gly233", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784152", "evidence": [ { "id": "rs3389409228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409228" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2358", "end_pos": "2358", "site_lbl": "Arg2358", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796512", "evidence": [ { "id": "rs3389389158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389158" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2362", "end_pos": "2362", "site_lbl": "Val2362", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796523", "evidence": [ { "id": "rs3389420159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420159" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2367", "end_pos": "2367", "site_lbl": "Val2367", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796539", "evidence": [ { "id": "rs3389433537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433537" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796538", "evidence": [ { "id": "rs3389399335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399335" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2394", "end_pos": "2394", "site_lbl": "Arg2394", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796621", "evidence": [ { "id": "rs33142571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33142571" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784174", "evidence": [ { "id": "rs3389439333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439333" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2438", "end_pos": "2438", "site_lbl": "Glu2438", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796838", "evidence": [ { "id": "rs3389456173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456173" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2451", "end_pos": "2451", "site_lbl": "Gly2451", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796877", "evidence": [ { "id": "rs3389451030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451030" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2489", "end_pos": "2489", "site_lbl": "Phe2489", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796992", "evidence": [ { "id": "rs3389446708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446708" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Cys248", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784198", "evidence": [ { "id": "rs3389451051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451051" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2507", "end_pos": "2507", "site_lbl": "Ala2507", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797112", "evidence": [ { "id": "rs33228783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33228783" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797419", "evidence": [ { "id": "rs33323633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33323633" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2526", "end_pos": "2526", "site_lbl": "Gly2526", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797169", "evidence": [ { "id": "rs3389443131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443131" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2531", "end_pos": "2531", "site_lbl": "Tyr2531", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797185", "evidence": [ { "id": "rs3407162864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162864" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2536", "end_pos": "2536", "site_lbl": "Pro2536", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797199", "evidence": [ { "id": "rs3407554756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407554756" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2546", "end_pos": "2546", "site_lbl": "Ser2546", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797230", "evidence": [ { "id": "rs3389434115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434115" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2547", "end_pos": "2547", "site_lbl": "Leu2547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797232", "evidence": [ { "id": "rs3389420198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420198" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2577", "end_pos": "2577", "site_lbl": "Pro2577", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797391", "evidence": [ { "id": "rs3389439324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439324" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2586", "end_pos": "2586", "site_lbl": "Ser2586", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797419", "evidence": [ { "id": "rs33323633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33323633" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2602", "end_pos": "2602", "site_lbl": "Gln2602", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797466", "evidence": [ { "id": "rs3389432242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432242" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2629", "end_pos": "2629", "site_lbl": "Val2629", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797818", "evidence": [ { "id": "rs248489710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248489710" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2636", "end_pos": "2636", "site_lbl": "Gln2636", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797839", "evidence": [ { "id": "rs3389389140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389140" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Gln266", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797466", "evidence": [ { "id": "rs3389432242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432242" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2673", "end_pos": "2673", "site_lbl": "Leu2673", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798711", "evidence": [ { "id": "rs3389433576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433576" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2680", "end_pos": "2680", "site_lbl": "Lys2680", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798732", "evidence": [ { "id": "rs3389456181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456181" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2689", "end_pos": "2689", "site_lbl": "Met2689", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798760", "evidence": [ { "id": "rs3389389093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389093" } ] }, { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798758", "evidence": [ { "id": "rs3389434076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434076" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2710", "end_pos": "2710", "site_lbl": "Ser2710", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798822", "evidence": [ { "id": "rs3389433570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433570" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2719", "end_pos": "2719", "site_lbl": "Ile2719", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798937", "evidence": [ { "id": "rs3389456210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456210" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2732", "end_pos": "2732", "site_lbl": "Leu2732", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798978", "evidence": [ { "id": "rs216395342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216395342" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2744", "end_pos": "2744", "site_lbl": "Ala2744", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799012", "evidence": [ { "id": "rs3389432304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432304" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2756", "end_pos": "2756", "site_lbl": "Arg2756", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799048", "evidence": [ { "id": "rs252101022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252101022" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2764", "end_pos": "2764", "site_lbl": "Leu2764", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799072", "evidence": [ { "id": "rs3389389089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389089" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2773", "end_pos": "2773", "site_lbl": "Gly2773", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799099", "evidence": [ { "id": "rs3389439263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439263" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2796", "end_pos": "2796", "site_lbl": "Gly2796", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799169", "evidence": [ { "id": "rs3389409270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409270" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2822", "end_pos": "2822", "site_lbl": "Phe2822", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799246", "evidence": [ { "id": "rs3389409295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409295" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2824", "end_pos": "2824", "site_lbl": "Val2824", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799253", "evidence": [ { "id": "rs3389420218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420218" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2848", "end_pos": "2848", "site_lbl": "Phe2848", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799324", "evidence": [ { "id": "rs3389441983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441983" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2854", "end_pos": "2854", "site_lbl": "Thr2854", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799343", "evidence": [ { "id": "rs3389439675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439675" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2859", "end_pos": "2859", "site_lbl": "Glu2859", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799357", "evidence": [ { "id": "rs3389456199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456199" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784312", "evidence": [ { "id": "rs3405714469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405714469" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784311", "evidence": [ { "id": "rs3407348880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348880" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2886", "end_pos": "2886", "site_lbl": "Val2886", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799438", "evidence": [ { "id": "rs214844177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214844177" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2895", "end_pos": "2895", "site_lbl": "Thr2895", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799465", "evidence": [ { "id": "rs237311958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237311958" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2902", "end_pos": "2902", "site_lbl": "Thr2902", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799486", "evidence": [ { "id": "rs3389451029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451029" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2929", "end_pos": "2929", "site_lbl": "Glu2929", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799868", "evidence": [ { "id": "rs3389439261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439261" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2945", "end_pos": "2945", "site_lbl": "Asn2945", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799915", "evidence": [ { "id": "rs3389433481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433481" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2953", "end_pos": "2953", "site_lbl": "Arg2953", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799939", "evidence": [ { "id": "rs3389446714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446714" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2959", "end_pos": "2959", "site_lbl": "Val2959", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799956", "evidence": [ { "id": "rs3389389134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389134" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2979", "end_pos": "2979", "site_lbl": "Leu2979", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800175", "evidence": [ { "id": "rs3389434094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434094" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2981", "end_pos": "2981", "site_lbl": "Arg2981", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800182", "evidence": [ { "id": "rs3389389116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389116" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Gly29", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787684", "evidence": [ { "id": "rs48951432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48951432" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Thr303", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784362", "evidence": [ { "id": "rs227557533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227557533" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3045", "end_pos": "3045", "site_lbl": "Ala3045", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800374", "evidence": [ { "id": "rs3407665512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665512" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3060", "end_pos": "3060", "site_lbl": "Glu3060", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800538", "evidence": [ { "id": "rs3389443135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443135" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3088", "end_pos": "3088", "site_lbl": "Arg3088", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800621", "evidence": [ { "id": "rs3389432310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432310" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3095", "end_pos": "3095", "site_lbl": "Val3095", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800642", "evidence": [ { "id": "rs3389443179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443179" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3106", "end_pos": "3106", "site_lbl": "Lys3106", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800675", "evidence": [ { "id": "rs3389399307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399307" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3142", "end_pos": "3142", "site_lbl": "Gly3142", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804701", "evidence": [ { "id": "rs3389389163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389163" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3159", "end_pos": "3159", "site_lbl": "Ile3159", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804752", "evidence": [ { "id": "rs3389456192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456192" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3177", "end_pos": "3177", "site_lbl": "Trp3177", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804807", "evidence": [ { "id": "rs3389409285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409285" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3202", "end_pos": "3202", "site_lbl": "Ser3202", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804957", "evidence": [ { "id": "rs3389442020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442020" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3222", "end_pos": "3222", "site_lbl": "Val3222", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805017", "evidence": [ { "id": "rs3413011159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413011159" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3233", "end_pos": "3233", "site_lbl": "Ala3233", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805147", "evidence": [ { "id": "rs3552815495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552815495" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3286", "end_pos": "3286", "site_lbl": "Ala3286", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805305", "evidence": [ { "id": "rs3389456128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456128" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3304", "end_pos": "3304", "site_lbl": "Val3304", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805446", "evidence": [ { "id": "rs3389399258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399258" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3310", "end_pos": "3310", "site_lbl": "Pro3310", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805465", "evidence": [ { "id": "rs3389441969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441969" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3324", "end_pos": "3324", "site_lbl": "Val3324", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805506", "evidence": [ { "id": "rs3389450974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450974" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3333", "end_pos": "3333", "site_lbl": "Leu3333", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805533", "evidence": [ { "id": "rs3389439700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439700" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3338", "end_pos": "3338", "site_lbl": "Met3338", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805548", "evidence": [ { "id": "rs3389389129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389129" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3341", "end_pos": "3341", "site_lbl": "Ser3341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805558", "evidence": [ { "id": "rs3389456155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456155" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3359", "end_pos": "3359", "site_lbl": "Val3359", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806202", "evidence": [ { "id": "rs3389409234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409234" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3361", "end_pos": "3361", "site_lbl": "Ser3361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806208", "evidence": [ { "id": "rs3389399268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399268" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Leu337", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798711", "evidence": [ { "id": "rs3389433576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433576" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3380", "end_pos": "3380", "site_lbl": "Glu3380", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806265", "evidence": [ { "id": "rs3389441977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441977" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3393", "end_pos": "3393", "site_lbl": "Glu3393", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806410", "evidence": [ { "id": "rs3389432301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432301" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3404", "end_pos": "3404", "site_lbl": "Ser3404", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806644", "evidence": [ { "id": "rs3407418924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418924" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3405", "end_pos": "3405", "site_lbl": "Glu3405", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806646", "evidence": [ { "id": "rs3406515894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406515894" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3406", "end_pos": "3406", "site_lbl": "Gly3406", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806649", "evidence": [ { "id": "rs3407848143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848143" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3409", "end_pos": "3409", "site_lbl": "Ser3409", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806658", "evidence": [ { "id": "rs3407348903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348903" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806660", "evidence": [ { "id": "rs3407418946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418946" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3411", "end_pos": "3411", "site_lbl": "Pro3411", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806664", "evidence": [ { "id": "rs3389450976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450976" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3415", "end_pos": "3415", "site_lbl": "Ser3415", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806677", "evidence": [ { "id": "rs3389433487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433487" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ala341", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784477", "evidence": [ { "id": "rs264415704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264415704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3422", "end_pos": "3422", "site_lbl": "Ser3422", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806698", "evidence": [ { "id": "rs3389409288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409288" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3453", "end_pos": "3453", "site_lbl": "Lys3453", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806791", "evidence": [ { "id": "rs219840556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219840556" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3491", "end_pos": "3491", "site_lbl": "Ser3491", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809795", "evidence": [ { "id": "rs3389439708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439708" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3492", "end_pos": "3492", "site_lbl": "Ser3492", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809798", "evidence": [ { "id": "rs50641431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50641431" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3506", "end_pos": "3506", "site_lbl": "Val3506", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809839", "evidence": [ { "id": "rs107828289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107828289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3509", "end_pos": "3509", "site_lbl": "Glu3509", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809848", "evidence": [ { "id": "rs107840595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107840595" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3512", "end_pos": "3512", "site_lbl": "Ala3512", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809858", "evidence": [ { "id": "rs3389439297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439297" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3517", "end_pos": "3517", "site_lbl": "Ser3517", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809873", "evidence": [ { "id": "rs220122745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220122745" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3565", "end_pos": "3565", "site_lbl": "Trp3565", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810095", "evidence": [ { "id": "rs3389420138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420138" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810093", "evidence": [ { "id": "rs864298690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864298690" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3566", "end_pos": "3566", "site_lbl": "Ile3566", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810096", "evidence": [ { "id": "rs864266799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864266799" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3593", "end_pos": "3593", "site_lbl": "Trp3593", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810179", "evidence": [ { "id": "rs3389354218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354218" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3594", "end_pos": "3594", "site_lbl": "Glu3594", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810180", "evidence": [ { "id": "rs3406589148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589148" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3605", "end_pos": "3605", "site_lbl": "Phe3605", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810282", "evidence": [ { "id": "rs3389434140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434140" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3640", "end_pos": "3640", "site_lbl": "His3640", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810387", "evidence": [ { "id": "rs3389354264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354264" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3656", "end_pos": "3656", "site_lbl": "Arg3656", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810437", "evidence": [ { "id": "rs3389399298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399298" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3668", "end_pos": "3668", "site_lbl": "Met3668", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810829", "evidence": [ { "id": "rs3389446742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446742" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3670", "end_pos": "3670", "site_lbl": "Phe3670", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810834", "evidence": [ { "id": "rs3389443204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443204" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3674", "end_pos": "3674", "site_lbl": "Thr3674", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810846", "evidence": [ { "id": "rs3553195478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553195478" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Val367", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784555", "evidence": [ { "id": "rs3389442014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442014" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3692", "end_pos": "3692", "site_lbl": "Gln3692", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810901", "evidence": [ { "id": "rs3389399318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399318" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784561", "evidence": [ { "id": "rs228090772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228090772" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3710", "end_pos": "3710", "site_lbl": "Ser3710", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811587", "evidence": [ { "id": "rs3389409245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409245" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3722", "end_pos": "3722", "site_lbl": "Leu3722", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811622", "evidence": [ { "id": "rs3389451014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451014" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3725", "end_pos": "3725", "site_lbl": "Val3725", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811631", "evidence": [ { "id": "rs3389456197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456197" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3761", "end_pos": "3761", "site_lbl": "Ala3761", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812221", "evidence": [ { "id": "rs3389409215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409215" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3795", "end_pos": "3795", "site_lbl": "Ala3795", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812451", "evidence": [ { "id": "rs250306528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250306528" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3812", "end_pos": "3812", "site_lbl": "Glu3812", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812502", "evidence": [ { "id": "rs3389446757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446757" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3832", "end_pos": "3832", "site_lbl": "Trp3832", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812564", "evidence": [ { "id": "rs3389442041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442041" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3833", "end_pos": "3833", "site_lbl": "Leu3833", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812565", "evidence": [ { "id": "rs3389451027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451027" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3841", "end_pos": "3841", "site_lbl": "Phe3841", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812786", "evidence": [ { "id": "rs3389432247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432247" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3848", "end_pos": "3848", "site_lbl": "Ser3848", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812808", "evidence": [ { "id": "rs3389446767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446767" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3862", "end_pos": "3862", "site_lbl": "Glu3862", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812849", "evidence": [ { "id": "rs3389446750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446750" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3867", "end_pos": "3867", "site_lbl": "Gly3867", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812865", "evidence": [ { "id": "rs3389354198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354198" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3871", "end_pos": "3871", "site_lbl": "Ala3871", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812876", "evidence": [ { "id": "rs224824041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224824041" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3874", "end_pos": "3874", "site_lbl": "Ser3874", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812886", "evidence": [ { "id": "rs3389433514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433514" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3884", "end_pos": "3884", "site_lbl": "Ser3884", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812916", "evidence": [ { "id": "rs3389456187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456187" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3904", "end_pos": "3904", "site_lbl": "Phe3904", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813089", "evidence": [ { "id": "rs3389432312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432312" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3921", "end_pos": "3921", "site_lbl": "Ala3921", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813140", "evidence": [ { "id": "rs236409400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236409400" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3940", "end_pos": "3940", "site_lbl": "Leu3940", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813198", "evidence": [ { "id": "rs3389433578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433578" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3945", "end_pos": "3945", "site_lbl": "Gln3945", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813212", "evidence": [ { "id": "rs3389446768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446768" } ] }, { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813212", "evidence": [ { "id": "rs3389446768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446768" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3949", "end_pos": "3949", "site_lbl": "Ala3949", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813224", "evidence": [ { "id": "rs3389420223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420223" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3962", "end_pos": "3962", "site_lbl": "Arg3962", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813264", "evidence": [ { "id": "rs50941934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50941934" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3977", "end_pos": "3977", "site_lbl": "Ala3977", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813309", "evidence": [ { "id": "rs3389433561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433561" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3982", "end_pos": "3982", "site_lbl": "Ala3982", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813323", "evidence": [ { "id": "rs3389440369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440369" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Leu3", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24769244", "evidence": [ { "id": "rs3723472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3723472" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4000", "end_pos": "4000", "site_lbl": "Arg4000", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813460", "evidence": [ { "id": "rs3389433573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433573" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4008", "end_pos": "4008", "site_lbl": "Thr4008", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813484", "evidence": [ { "id": "rs3389433532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433532" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4027", "end_pos": "4027", "site_lbl": "Gly4027", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813540", "evidence": [ { "id": "rs3389456158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456158" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4033", "end_pos": "4033", "site_lbl": "Met4033", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813559", "evidence": [ { "id": "rs3389456211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456211" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4041", "end_pos": "4041", "site_lbl": "Gly4041", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813659", "evidence": [ { "id": "rs3389440378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440378" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4064", "end_pos": "4064", "site_lbl": "Leu4064", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813728", "evidence": [ { "id": "rs3389401985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401985" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4112", "end_pos": "4112", "site_lbl": "Trp4112", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813872_24813873i", "evidence": [ { "id": "rs3407164284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407164284" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4136", "end_pos": "4136", "site_lbl": "Val4136", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813944", "evidence": [ { "id": "rs3389354253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354253" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4138", "end_pos": "4138", "site_lbl": "Glu4138", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813949", "evidence": [ { "id": "rs3389442004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442004" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4177", "end_pos": "4177", "site_lbl": "Pro4177", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814161", "evidence": [ { "id": "rs3389440317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440317" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4192", "end_pos": "4192", "site_lbl": "Ser4192", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814205", "evidence": [ { "id": "rs3389389112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389112" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4237", "end_pos": "4237", "site_lbl": "Gln4237", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814341", "evidence": [ { "id": "rs13468401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468401" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4250", "end_pos": "4250", "site_lbl": "Pro4250", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814380", "evidence": [ { "id": "rs3389442019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442019" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4263", "end_pos": "4263", "site_lbl": "Arg4263", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814419", "evidence": [ { "id": "rs3389434124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434124" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4283", "end_pos": "4283", "site_lbl": "Trp4283", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814478", "evidence": [ { "id": "rs3389442011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442011" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Gln435", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784862", "evidence": [ { "id": "rs49772838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49772838" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Trp439", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784875", "evidence": [ { "id": "rs3389446753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446753" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Gly469", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786120", "evidence": [ { "id": "rs3389443137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443137" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Phe486", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799246", "evidence": [ { "id": "rs3389409295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409295" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Asn493", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786193", "evidence": [ { "id": "rs3407511549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407511549" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786192", "evidence": [ { "id": "rs3407580214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407580214" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Gly4", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804828", "evidence": [ { "id": "rs46995268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46995268" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Cys507", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786235", "evidence": [ { "id": "rs3389399271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399271" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Thr518", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799343", "evidence": [ { "id": "rs3389439675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439675" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asp519", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786271", "evidence": [ { "id": "rs3407162817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162817" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Arg532", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786310", "evidence": [ { "id": "rs3552687284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552687284" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Gly551", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786619", "evidence": [ { "id": "rs3389389128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389128" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Gln603", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787276", "evidence": [ { "id": "rs3389353691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353691" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Glu624", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787624", "evidence": [ { "id": "rs3389439329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439329" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Lys634", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787654", "evidence": [ { "id": "rs3553069235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553069235" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Gly644", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787684", "evidence": [ { "id": "rs48951432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48951432" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "658", "end_pos": "658", "site_lbl": "His658", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787726", "evidence": [ { "id": "rs3389442009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442009" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787750", "evidence": [ { "id": "rs3389438289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ala673", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787771", "evidence": [ { "id": "rs3389438196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438196" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Phe682", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787797", "evidence": [ { "id": "rs3389456170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456170" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Leu694", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787833", "evidence": [ { "id": "rs3389441998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441998" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Pro703", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788351", "evidence": [ { "id": "rs3407665511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665511" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Met704", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788354", "evidence": [ { "id": "rs3407665502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665502" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Leu709", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788369", "evidence": [ { "id": "rs3389353630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353630" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Pro725", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788417", "evidence": [ { "id": "rs3389353663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353663" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Pro731", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788435", "evidence": [ { "id": "rs3389439267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439267" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Leu735", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788447", "evidence": [ { "id": "rs108516640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108516640" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Arg771", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788555", "evidence": [ { "id": "rs33254469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33254469" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Gln785", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788597", "evidence": [ { "id": "rs3389446739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446739" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "789", "end_pos": "789", "site_lbl": "His789", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788608", "evidence": [ { "id": "rs3389409256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409256" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Leu79", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787833", "evidence": [ { "id": "rs3389441998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441998" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ile815", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788686", "evidence": [ { "id": "rs250218931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250218931" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Pro825", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788717", "evidence": [ { "id": "rs3389432260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432260" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Ile830", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788731", "evidence": [ { "id": "rs212154969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212154969" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Gln854", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788804", "evidence": [ { "id": "rs3389433258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433258" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Pro869", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788849", "evidence": [ { "id": "rs3552726611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552726611" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Glu871", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788856", "evidence": [ { "id": "rs33551780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33551780" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Asp873", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788860", "evidence": [ { "id": "rs3407511554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407511554" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Val890", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788912", "evidence": [ { "id": "rs3389353699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353699" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Ser934", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24789044", "evidence": [ { "id": "rs3389389157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389157" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Glu95", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783192", "evidence": [ { "id": "rs246149213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246149213" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "985", "end_pos": "985", "site_lbl": "Ile985", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790271", "evidence": [ { "id": "rs33624118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33624118" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "993", "end_pos": "993", "site_lbl": "Ser993", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24790505", "evidence": [ { "id": "rs3389433261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433261" } ] } ] } ], "record_id": "O08852-1" }, { "uniprot_canonical_ac": "P83870-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 110, "chemical_mass": 12405.0, "gene_names": "Phf5a;1110007B08Rik;Phf5a", "protein_name": "PHD finger-like domain-containing protein 5A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "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": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P83870-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P83870", "url": "https://www.uniprot.org/uniprotkb/P83870" } ] } ] } ], "record_id": "P83870-1" }, { "uniprot_canonical_ac": "Q64028-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1010, "chemical_mass": 106060.0, "gene_names": "Phc1;Edr1;Edr;Mph1;Phc1;Rae-28;Rae28;rae28", "protein_name": "Polyhomeotic-like protein 1", "disease": [ { "disease_id": "DOID:0070287", "name": "primary autosomal recessive microcephaly 11", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0070287", "evidence": [ { "id": "0070287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070287" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "PRC1 complex", "id": "GO:0035102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035102", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "sex chromatin", "id": "GO:0001739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001739", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "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": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64028-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Ser117", "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": 117, "start_aa": "Ser", "end_pos": 117, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser117", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "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": 121, "start_aa": "Ser", "end_pos": 121, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser121", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Thr320", "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": 320, "start_aa": "Thr", "end_pos": 320, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr320", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Thr322", "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": 322, "start_aa": "Thr", "end_pos": 322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr322", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Thr354", "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": 354, "start_aa": "Thr", "end_pos": 354, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr354", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Thr559", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 559, "start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Thr616", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 616, "start_aa": "Thr", "end_pos": 616, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr616", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Thr710", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 710, "start_aa": "Thr", "end_pos": 710, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr710", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "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": 85, "start_aa": "Ser", "end_pos": 85, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser85", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "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": 86, "start_aa": "Ser", "end_pos": 86, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser86", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Thr98", "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": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Thr99", "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": 99, "start_aa": "Thr", "end_pos": 99, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr99", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q64028", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q64028" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q64028", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "904", "end_pos": "904", "site_lbl": "Ser904", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ] } ] }, { "uniprot_canonical_ac": "Q64028-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Thr928", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64028", "url": "https://www.uniprot.org/uniprotkb/Q64028" } ] } ] } ], "record_id": "Q64028-1" }, { "uniprot_canonical_ac": "Q8R3B1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 756, "chemical_mass": 85873.0, "gene_names": "Plcd1;Plcd1;Plcd", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1", "disease": [ { "disease_id": "DOID:0080081", "name": "nonsyndromic congenital nail disorder 3", "description": "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.", "url": "https://disease-ontology.org/term/DOID:0080081", "evidence": [ { "id": "0080081", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080081" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "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 } ], "molecular_function": [ { "name": "inositol 1,4,5 trisphosphate binding", "id": "GO:0070679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070679", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phospholipase C activity", "id": "GO:0004629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004629", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity", "id": "GO:0004439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004439", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol phospholipase C activity", "id": "GO:0120548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120548", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of inositol trisphosphate biosynthetic process", "id": "GO:0032962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032962", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "phospholipase C/protein kinase C signal transduction", "id": "GO:0141212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141212", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 191, "start_aa": "Ser", "end_pos": 191, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser191", "evidence": [ { "id": "Q8R3B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Thr193", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 193, "start_aa": "Thr", "end_pos": 193, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr193", "evidence": [ { "id": "Q8R3B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Thr209", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8R3B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3B1" }, { "database": "PubMed", "id": "19681039", "url": "https://glygen.org/publication/PubMed/19681039" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8R3B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3B1" }, { "database": "PubMed", "id": "19681039", "url": "https://glygen.org/publication/PubMed/19681039" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Thr457", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R3B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3B1" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3B1", "url": "https://www.uniprot.org/uniprotkb/Q8R3B1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R3B1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3B1" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asp130", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "9", "chr_pos": "118910030", "evidence": [ { "id": "rs3389049585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389049585" } ] } ] }, { "uniprot_canonical_ac": "Q8R3B1-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Asp177", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "9", "chr_pos": "118905181", "evidence": [ { "id": "rs3389083481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389083481" } ] } ] } ], "record_id": "Q8R3B1-1" }, { "uniprot_canonical_ac": "Q9D4J7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 364, "chemical_mass": 41139.0, "gene_names": "Phf6;2700007B13Rik;4931428F02Rik;Kiaa1823;Phf6;mKIAA1823", "protein_name": "PHD finger protein 6", "disease": [ { "disease_id": "DOID:0050681", "name": "Borjeson-Forssman-Lehmann syndrome", "description": "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.", "url": "https://disease-ontology.org/term/DOID:0050681", "evidence": [ { "id": "0050681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050681" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "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: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 } ], "biological_process": [ { "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": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "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": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D4J7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D4J7" } ] } ] }, { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D4J7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D4J7" } ] } ] }, { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ] } ] }, { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D4J7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D4J7" } ] } ] }, { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ] } ] }, { "uniprot_canonical_ac": "Q9D4J7-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Thr357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D4J7", "url": "https://www.uniprot.org/uniprotkb/Q9D4J7" } ] } ] } ], "record_id": "Q9D4J7-1" }, { "uniprot_canonical_ac": "P70275-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 775, "chemical_mass": 89543.0, "gene_names": "Sema3e;6430702L12;Sema3e;Semah;Semh;mKIAA0331", "protein_name": "Semaphorin-3E", "disease": [ { "disease_id": "DOID:0050834", "name": "CHARGE syndrome", "description": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.", "url": "https://disease-ontology.org/term/DOID:0050834", "evidence": [ { "id": "0050834", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050834" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" } ], "molecular_function": [ { "name": "semaphorin receptor binding", "id": "GO:0030215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030215", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "neuropilin binding", "id": "GO:0038191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038191", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "chemorepellent activity", "id": "GO:0045499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045499", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "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": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "negative chemotaxis", "id": "GO:0050919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050919", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" }, { "name": "gonadotrophin-releasing hormone neuronal migration to the hypothalamus", "id": "GO:0021828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021828", "evidence": [ { "database": "UniProtKB", "id": "P70275", "url": "https://www.uniprot.org/uniprotkb/P70275" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70275-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Asn126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLHHYNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "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" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "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": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "P70275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70275#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70275-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P70275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70275#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70275-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Asn330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2694", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2694" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPVIFGLFNTTSNIFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "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" } ] }, { "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": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "P70275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70275#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70275-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELLELNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "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" } ] }, { "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": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "P70275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70275#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70275-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Asn596", "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": "LAYGIESNSTLLECTPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 596, "start_aa": "Asn", "end_pos": 596, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn596", "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" } ] }, { "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": 596, "start_aa": "Asn", "end_pos": 596, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn596", "evidence": [ { "id": "P70275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70275#ptm_processing" } ] } ] } ], "record_id": "P70275-1" }, { "uniprot_canonical_ac": "Q9Z2Q6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 369, "chemical_mass": 42748.0, "gene_names": "Septin5;Cdcrel-1;Cdcrel1;Pnutl1;Sept5;Septin5", "protein_name": "Septin-5", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "septin ring", "id": "GO:0005940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005940", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "septin complex", "id": "GO:0031105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031105", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "cell division site", "id": "GO:0032153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032153", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" } ], "biological_process": [ { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "cytoskeleton-dependent cytokinesis", "id": "GO:0061640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061640", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle docking", "id": "GO:0099148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099148", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "negative regulation of regulated secretory pathway", "id": "GO:1903306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903306", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z2Q6-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Thr336", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 336, "start_aa": "Thr", "end_pos": 336, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr336", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q9Z2Q6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Q6-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z2Q6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Q6-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" }, { "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": "Q9Z2Q6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2Q6-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ser327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Q6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q9Z2Q6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q6" }, { "database": "PubMed", "id": "34954322", "url": "https://glygen.org/publication/PubMed/34954322" } ] } ] } ], "record_id": "Q9Z2Q6-1" }, { "uniprot_canonical_ac": "Q6P9N1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 521, "chemical_mass": 57321.0, "gene_names": "Hycc1;Drctnnb1a;Fam126a;Hycc1", "protein_name": "Hyccin", "disease": [ { "disease_id": "DOID:0060793", "name": "hypomyelinating leukodystrophy 5", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.", "url": "https://disease-ontology.org/term/DOID:0060793", "evidence": [ { "id": "0060793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060793" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Thr308", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "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": 362, "start_aa": "Ser", "end_pos": 362, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser362", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q6P9N1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P9N1" }, { "id": "Q6P9N1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "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": 365, "start_aa": "Ser", "end_pos": 365, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser365", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q6P9N1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P9N1" }, { "id": "Q6P9N1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ser372", "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": 372, "start_aa": "Ser", "end_pos": 372, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser372", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q6P9N1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P9N1" }, { "id": "Q6P9N1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P9N1" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "5", "chr_pos": "24170232", "evidence": [ { "id": "rs13478143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13478143" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Thr306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9N1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9N1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Ser453", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6P9N1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9N1" } ] } ] }, { "uniprot_canonical_ac": "Q6P9N1-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9N1", "url": "https://www.uniprot.org/uniprotkb/Q6P9N1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6P9N1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P9N1" } ] } ] } ], "record_id": "Q6P9N1-1" }, { "uniprot_canonical_ac": "P70205-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 496, "chemical_mass": 56640.0, "gene_names": "Adcyap1r1;2900024I10Rik;Adcyap1r1;PAC1R;PAC1;PACAP1-R", "protein_name": "Pituitary adenylate cyclase-activating polypeptide type I receptor", "disease": [ { "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:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "pituitary adenylate cyclase-activating polypeptide receptor activity", "id": "GO:0001634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001634", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "G protein-coupled peptide receptor activity", "id": "GO:0008528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008528", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "neuropeptide binding", "id": "GO:0042923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042923", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "vasoactive intestinal polypeptide receptor activity", "id": "GO:0004999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004999", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cAMP metabolic process", "id": "GO:0046058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046058", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "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": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "positive regulation of inositol phosphate biosynthetic process", "id": "GO:0060732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060732", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "negative regulation of response to reactive oxygen species", "id": "GO:1901032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901032", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "development of primary female sexual characteristics", "id": "GO:0046545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046545", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70205-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "P70205", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70205#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70205-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "P70205", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70205#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70205-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Asn60", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "P70205", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70205#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70205-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70205", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70205" } ] } ] }, { "uniprot_canonical_ac": "P70205-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70205", "url": "https://www.uniprot.org/uniprotkb/P70205" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70205", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P70205" } ] } ] } ], "record_id": "P70205-1" }, { "uniprot_canonical_ac": "Q3UZ18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 988, "chemical_mass": 109879.0, "gene_names": "Ice2;B230343B06Rik;Ice2;Narg2", "protein_name": "Little elongation complex subunit 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "histone locus body", "id": "GO:0035363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035363", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "snRNA transcription by RNA polymerase II", "id": "GO:0042795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042795", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" }, { "name": "snRNA transcription by RNA polymerase III", "id": "GO:0042796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042796", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UZ18-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 447, "start_aa": "Thr", "end_pos": 447, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr447", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ18-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Thr459", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 459, "start_aa": "Thr", "end_pos": 459, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr459", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ18-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ18-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ser587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" }, { "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": "Q3UZ18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZ18" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ18-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Thr589", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ18", "url": "https://www.uniprot.org/uniprotkb/Q3UZ18" }, { "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": "Q3UZ18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UZ18" } ] } ] } ], "record_id": "Q3UZ18-1" }, { "uniprot_canonical_ac": "Q99NH2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1333, "chemical_mass": 149075.0, "gene_names": "Pard3;Asip;D8Ertd580e;Par-3;Par3;Pard-3;Pard3a;Pard3;Phip", "protein_name": "Partitioning defective 3 homolog", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "internode region of axon", "id": "GO:0033269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033269", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "Schmidt-Lanterman incisure", "id": "GO:0043220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043220", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "lateral loop", "id": "GO:0043219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043219", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "PAR polarity complex", "id": "GO:0120157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120157", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cellular localization", "id": "GO:0060341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060341", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "establishment of epithelial cell polarity", "id": "GO:0090162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090162", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-threonine phosphorylation", "id": "GO:0010801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010801", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Ser1042", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Tyr489", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Ser695", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Ser715", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99NH2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Ser806", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Ser834", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Ser849", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Ser869", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "958", "end_pos": "958", "site_lbl": "Ser958", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "967", "end_pos": "967", "site_lbl": "Ser967", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ser969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "1327", "end_pos": "1327", "site_lbl": "Lys1327", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits Schwann cell peripheral myelination; when associated with A-831; A-848 and A-881.", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21949390", "url": "https://glygen.org/publication/PubMed/21949390" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "831", "end_pos": "831", "site_lbl": "Lys831", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits Schwann cell peripheral myelination; when associated with A-848; A-881 and A-1327.", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21949390", "url": "https://glygen.org/publication/PubMed/21949390" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Lys848", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits Schwann cell peripheral myelination; when associated with A-831; A-881 and A-1327.", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21949390", "url": "https://glygen.org/publication/PubMed/21949390" } ] } ] }, { "uniprot_canonical_ac": "Q99NH2-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Lys881", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits Schwann cell peripheral myelination; when associated with A-831; A-848 and A-1327.", "evidence": [ { "database": "UniProtKB", "id": "Q99NH2", "url": "https://www.uniprot.org/uniprotkb/Q99NH2" }, { "database": "PubMed", "id": "21949390", "url": "https://glygen.org/publication/PubMed/21949390" } ] } ] } ], "record_id": "Q99NH2-1" }, { "uniprot_canonical_ac": "O70161-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 661, "chemical_mass": 72408.0, "gene_names": "Pip5k1c;Kiaa0589;Pip5k1c;Pip5kIgamma", "protein_name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma", "disease": [ { "disease_id": "DOID:0060653", "name": "lethal congenital contracture syndrome 3", "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0060653", "evidence": [ { "id": "0060653", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060653" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "presynaptic endocytic zone membrane", "id": "GO:0098835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098835", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "uropod", "id": "GO:0001931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001931", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-4-phosphate 5-kinase activity", "id": "GO:0016308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016308", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "talin binding", "id": "GO:1990147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990147", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phosphatidylinositol kinase activity", "id": "GO:0052742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052742", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor internalization", "id": "GO:0099149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099149", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70161-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "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": 11, "start_aa": "Ser", "end_pos": 11, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser11", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O70161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "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": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O70161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Thr471", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 471, "start_aa": "Thr", "end_pos": 471, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr471", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Ser514", "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": 514, "start_aa": "Ser", "end_pos": 514, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser514", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O70161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70161" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "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": 522, "start_aa": "Ser", "end_pos": 522, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser522", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O70161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O70161" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Ser554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Tyr634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "iPTMnet", "id": "O70161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70161" }, { "database": "PubMed", "id": "17635937", "url": "https://glygen.org/publication/PubMed/17635937" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Cannot rescue the effect PIP5K1C knockdown on EGF-stimulated cell migration. Does not affect lipid kinase activity. Does not alter binding to tailin. Decreased tailin assembly into focal adhesions. Increased interaction with PLCG1.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "17635937", "url": "https://glygen.org/publication/PubMed/17635937" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Tyr644", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "iPTMnet", "id": "O70161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70161" }, { "database": "PubMed", "id": "14691141", "url": "https://glygen.org/publication/PubMed/14691141" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation by CSK. Abolishes interaction with AP-2 complex. Cannot rescue the effect PIP5K1C knockdown on EGF-stimulated cell migration.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "14691141", "url": "https://glygen.org/publication/PubMed/14691141" }, { "database": "PubMed", "id": "17635937", "url": "https://glygen.org/publication/PubMed/17635937" }, { "database": "PubMed", "id": "19287005", "url": "https://glygen.org/publication/PubMed/19287005" }, { "database": "PubMed", "id": "16707488", "url": "https://glygen.org/publication/PubMed/16707488" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Cannot rescue the effect PIP5K1C knockdown on EGF-stimulated cell migration. Decreased tailin assembly into focal adhesions.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "17635937", "url": "https://glygen.org/publication/PubMed/17635937" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O70161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Thr661", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Lys255", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "10", "chr_pos": "81144925", "evidence": [ { "id": "rs3389127574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389127574" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Arg386", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGC).", "chr_id": "10", "chr_pos": "81147505", "evidence": [ { "id": "rs3507944599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507944599" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Asp253", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes lipid kinase activity. Does not affect targeting of TLN1 to plasma membrane. Affects assembly of TLN1 into focal adhesions. Affects uropodium formation and retraction of the cell rear.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "12422220", "url": "https://glygen.org/publication/PubMed/12422220" }, { "database": "PubMed", "id": "17928408", "url": "https://glygen.org/publication/PubMed/17928408" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Phe635", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with AP2B1.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "19287005", "url": "https://glygen.org/publication/PubMed/19287005" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Trp642", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes interaction with AP2B1.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "19287005", "url": "https://glygen.org/publication/PubMed/19287005" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Pro646", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "F", "comment": "Abolishes interaction with AP-2 complex.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "16707488", "url": "https://glygen.org/publication/PubMed/16707488" } ] } ] }, { "uniprot_canonical_ac": "O70161-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Leu647", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Abolishes interaction with AP-2 complex.", "evidence": [ { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprotkb/O70161" }, { "database": "PubMed", "id": "16707488", "url": "https://glygen.org/publication/PubMed/16707488" } ] } ] } ], "record_id": "O70161-1" }, { "uniprot_canonical_ac": "Q91ZA3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 724, "chemical_mass": 79922.0, "gene_names": "Pcca;Pcca", "protein_name": "Propionyl-CoA carboxylase alpha chain, mitochondrial", "disease": [ { "disease_id": "DOID:14701", "name": "propionic acidemia", "description": "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.", "url": "https://disease-ontology.org/term/DOID:14701", "evidence": [ { "id": "14701", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14701" } ], "weight": 0.0 }, { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "propionyl-CoA carboxylase activity", "id": "GO:0004658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004658", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" }, { "name": "succinyl-CoA biosynthetic process", "id": "GO:1901290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901290", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZA3-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91ZA3", "url": "https://www.uniprot.org/uniprotkb/Q91ZA3" }, { "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": "Q91ZA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91ZA3" } ] } ] } ], "record_id": "Q91ZA3-1" }, { "uniprot_canonical_ac": "Q8CII8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CII8", "url": "https://www.uniprot.org/uniprotkb/Q8CII8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 388, "chemical_mass": 42024.0, "gene_names": "Syne4;0610012K07Rik;AI428936;KASH4;Nesp4;Syne4", "protein_name": "Nesprin-4", "disease": [ { "disease_id": "DOID:0110524", "name": "autosomal recessive nonsyndromic deafness 76", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110524", "evidence": [ { "id": "0110524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110524" } ], "weight": 0.0 } ], "biological_process": [ { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "Q8CII8", "url": "https://www.uniprot.org/uniprotkb/Q8CII8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "Q8CII8", "url": "https://www.uniprot.org/uniprotkb/Q8CII8" } ], "pmid": "" }, { "name": "meiotic nuclear membrane microtubule tethering complex", "id": "GO:0034993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034993", "evidence": [ { "database": "UniProtKB", "id": "Q8CII8", "url": "https://www.uniprot.org/uniprotkb/Q8CII8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CII8-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Thr239", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 239, "start_aa": "Thr", "end_pos": 239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr239", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "30016377", "evidence": [ { "id": "rs252001133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252001133" } ] } ] } ], "record_id": "Q8CII8-1" }, { "uniprot_canonical_ac": "Q6ZPF3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1715, "chemical_mass": 192567.0, "gene_names": "Tiam2;3000002F19Rik;Kiaa2016;STEF;Stef;Tiam2;mKIAA2016", "protein_name": "Rho guanine nucleotide exchange factor TIAM2", "disease": [ { "disease_id": "DOID:0070354", "name": "cataract 48", "description": "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.", "url": "https://disease-ontology.org/term/DOID:0070354", "evidence": [ { "id": "0070354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070354" } ], "weight": 0.0 }, { "disease_id": "DOID:0070444", "name": "neurodevelopmental disorder with language delay and seizures", "description": "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0070444", "evidence": [ { "id": "0070444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070444" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" } ], "biological_process": [ { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1512", "end_pos": "1512", "site_lbl": "Ser1512", "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": 1512, "start_aa": "Ser", "end_pos": 1512, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1512", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6ZPF3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZPF3" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Asn15", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NHSNTVTGAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 15, "start_aa": "Asn", "end_pos": 15, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "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": "Q6ZPF3-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Thr228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 228, "start_aa": "Thr", "end_pos": 228, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr228", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Asn288", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G12261QD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PFNQSSSLSSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 288, "start_aa": "Asn", "end_pos": 288, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn288", "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": "Q6ZPF3-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Asn554", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GCTLLFYETYGKNSTEQNSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "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": "Q6ZPF3-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ser615", "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": 615, "start_aa": "Ser", "end_pos": 615, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser615", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q6ZPF3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZPF3" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1604", "end_pos": "1604", "site_lbl": "Ser1604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPF3" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1662", "end_pos": "1662", "site_lbl": "Thr1662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" }, { "database": "iPTMnet", "id": "Q6ZPF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPF3" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Strongly decrease phosphorylation by Rho-kinase. No change in promoting neurite growth; when associated with A-1668 and A-1672.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Ser1333", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "17", "chr_pos": "3561434", "evidence": [ { "id": "rs3389397704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389397704" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Thr638", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TRS->NRS).", "chr_id": "17", "chr_pos": "3479181", "evidence": [ { "id": "rs3389446092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446092" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1655", "end_pos": "1655", "site_lbl": "Ser1655", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change of phosphorylation by Rho-kinase.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1656", "end_pos": "1656", "site_lbl": "Thr1656", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No change of phosphorylation by Rho-kinase.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1668", "end_pos": "1668", "site_lbl": "Thr1668", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Slight decrease phosphorylation by Rho-kinase. No change in promoting neurite growth; when associated with A-1662 and A-1672.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF3-1", "start_pos": "1672", "end_pos": "1672", "site_lbl": "Ser1672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Slight decrease phosphorylation by Rho-kinase. No change in promoting neurite growth; when associated with A-1662 and A-1668.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF3", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF3" }, { "database": "PubMed", "id": "17320046", "url": "https://glygen.org/publication/PubMed/17320046" } ] } ] } ], "record_id": "Q6ZPF3-1" }, { "uniprot_canonical_ac": "Q4KMM3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 866, "chemical_mass": 95912.0, "gene_names": "Oxr1;2210416C20Rik;C7B;C7;Gm1238;Oxr1", "protein_name": "Oxidation resistance protein 1", "disease": [ { "disease_id": "DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.", "url": "https://disease-ontology.org/term/DOID:0070339", "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "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": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "cellular response to hydroperoxide", "id": "GO:0071447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071447", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-cysteine S-nitrosylation", "id": "GO:1902083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902083", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" }, { "name": "negative regulation of cellular response to oxidative stress", "id": "GO:1900408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900408", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "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": 174, "start_aa": "Thr", "end_pos": 174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr174", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4KMM3" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Thr175", "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": 175, "start_aa": "Thr", "end_pos": 175, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr175", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Thr190", "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": 190, "start_aa": "Thr", "end_pos": 190, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr190", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q4KMM3" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Asn321", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ATGVSAEDADPRARDQGNDSASTAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 321, "start_aa": "Asn", "end_pos": 321, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn321", "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": "Q4KMM3-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "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": 343, "start_aa": "Ser", "end_pos": 343, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser343", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Ser445", "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": 445, "start_aa": "Ser", "end_pos": 445, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser445", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "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": 446, "start_aa": "Ser", "end_pos": 446, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser446", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "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": 450, "start_aa": "Ser", "end_pos": 450, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser450", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "15", "chr_pos": "41683720", "evidence": [ { "id": "rs213913582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213913582" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "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": 451, "start_aa": "Ser", "end_pos": 451, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser451", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "15", "chr_pos": "41683723", "evidence": [ { "id": "rs31850612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31850612" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "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": 460, "start_aa": "Ser", "end_pos": 460, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser460", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "15", "chr_pos": "41683750", "evidence": [ { "id": "rs246680920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246680920" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "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": 462, "start_aa": "Ser", "end_pos": 462, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser462", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "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": 463, "start_aa": "Ser", "end_pos": 463, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser463", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q4KMM3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asn5", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SVSNLSWLKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "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": "Q4KMM3-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Thr118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q4KMM3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q4KMM3" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Ser346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Ser488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4KMM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Pro391", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "15", "chr_pos": "41683563", "evidence": [ { "id": "rs255984002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255984002" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "773", "end_pos": "773", "site_lbl": "Glu773", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes neuroprotective activity. Increases levels of S-nitrosylated proteins in neurons.", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Cys793", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect oxidation.", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "22028674", "url": "https://glygen.org/publication/PubMed/22028674" } ] } ] }, { "uniprot_canonical_ac": "Q4KMM3-1", "start_pos": "841", "end_pos": "841", "site_lbl": "Cys841", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces oxidation.", "evidence": [ { "database": "UniProtKB", "id": "Q4KMM3", "url": "https://www.uniprot.org/uniprotkb/Q4KMM3" }, { "database": "PubMed", "id": "22028674", "url": "https://glygen.org/publication/PubMed/22028674" } ] } ] } ], "record_id": "Q4KMM3-1" }, { "uniprot_canonical_ac": "Q9JMK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 416, "chemical_mass": 47322.0, "gene_names": "Csnk1e;CK1epsilon;CKIe;Csnk1e;KC1epsilon;tau", "protein_name": "Casein kinase I isoform epsilon", "disease": [ { "disease_id": "DOID:0060807", "name": "syndromic X-linked intellectual disability Najm type", "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060807", "evidence": [ { "id": "0060807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060807" } ], "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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "negative regulation of small GTPase mediated signal transduction", "id": "GO:0051058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051058", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "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": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "positive regulation of non-canonical Wnt signaling pathway", "id": "GO:2000052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000052", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 351, "start_aa": "Thr", "end_pos": 351, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr351", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Thr362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" }, { "database": "iPTMnet", "id": "Q9JMK2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JMK2" }, { "database": "PubMed", "id": "17525164", "url": "https://glygen.org/publication/PubMed/17525164" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Arg178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Shortens circadian rhythm. Accelerates PER2 degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" }, { "database": "PubMed", "id": "18400165", "url": "https://glygen.org/publication/PubMed/18400165" } ] } ] }, { "uniprot_canonical_ac": "Q9JMK2-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Lys38", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases PER1 phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" }, { "database": "PubMed", "id": "10848614", "url": "https://glygen.org/publication/PubMed/10848614" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Increases PER1 nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "Q9JMK2", "url": "https://www.uniprot.org/uniprotkb/Q9JMK2" }, { "database": "PubMed", "id": "10848614", "url": "https://glygen.org/publication/PubMed/10848614" } ] } ] } ], "record_id": "Q9JMK2-1" }, { "uniprot_canonical_ac": "Q03526-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 625, "chemical_mass": 72292.0, "gene_names": "Itk;Emt;Itk;Tcsk;Tlk;Tsk", "protein_name": "Tyrosine-protein kinase ITK/TSK", "disease": [ { "disease_id": "DOID:0060707", "name": "lymphoproliferative syndrome 1", "description": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.", "url": "https://disease-ontology.org/term/DOID:0060707", "evidence": [ { "id": "0060707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060707" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "gamma-delta T cell activation", "id": "GO:0046629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046629", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "NK T cell differentiation", "id": "GO:0001865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001865", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03526-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Thr166", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 166, "start_aa": "Thr", "end_pos": 166, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr166", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "46251124", "evidence": [ { "id": "rs3389154800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389154800" } ] } ] }, { "uniprot_canonical_ac": "Q03526-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Tyr186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ] } ] }, { "uniprot_canonical_ac": "Q03526-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Tyr517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ] } ] }, { "uniprot_canonical_ac": "Q03526-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Ser570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03526", "url": "https://www.uniprot.org/uniprotkb/Q03526" } ] } ] } ], "record_id": "Q03526-1" }, { "uniprot_canonical_ac": "Q9JIY0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 408, "chemical_mass": 45997.0, "gene_names": "Plekho1;2810052M02Rik;CKIP-1;Ckip1;JZA-20;Jza2;Plekho1", "protein_name": "Pleckstrin homology domain-containing family O member 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "muscle cell projection membrane", "id": "GO:0036195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036195", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" } ], "biological_process": [ { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "lamellipodium morphogenesis", "id": "GO:0072673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072673", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" }, { "name": "regulation of myoblast fusion", "id": "GO:1901739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901739", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIY0-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9JIY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIY0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIY0-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9JIY0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIY0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIY0-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIY0", "url": "https://www.uniprot.org/uniprotkb/Q9JIY0" } ] } ] } ], "record_id": "Q9JIY0-1" }, { "uniprot_canonical_ac": "Q7TQG1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1173, "chemical_mass": 131427.0, "gene_names": "Plekha6;9530028L01Rik;Pepp3;Plekha6", "protein_name": "Pleckstrin homology domain-containing family A member 6", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Thr1140", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1140, "start_aa": "Thr", "end_pos": 1140, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1140", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Thr1151", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1151, "start_aa": "Thr", "end_pos": 1151, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1151", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNKTGGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "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": "Q7TQG1-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asn572", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MVENSSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 572, "start_aa": "Asn", "end_pos": 572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn572", "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": "Q7TQG1-1", "start_pos": "1045", "end_pos": "1045", "site_lbl": "Thr1045", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1065", "end_pos": "1065", "site_lbl": "Ser1065", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Ser1142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1145", "end_pos": "1145", "site_lbl": "Thr1145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ser1146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Ser1149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Tyr492", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "864", "end_pos": "864", "site_lbl": "Ser864", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Thr868", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "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": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "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": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Thr908", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "925", "end_pos": "925", "site_lbl": "Ser925", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Ser973", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Ser979", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "992", "end_pos": "992", "site_lbl": "Ser992", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQG1", "url": "https://www.uniprot.org/uniprotkb/Q7TQG1" }, { "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": "Q7TQG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TQG1-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Thr36", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TRT->NRT).", "chr_id": "1", "chr_pos": "133191539", "evidence": [ { "id": "rs3539732111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539732111" } ] } ] } ], "record_id": "Q7TQG1-1" }, { "uniprot_canonical_ac": "Q6DFV7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 943, "chemical_mass": 106357.0, "gene_names": "Ncoa7;9030406N13Rik;Ncoa7", "protein_name": "Nuclear receptor coactivator 7", "disease": [ { "disease_id": "DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.", "url": "https://disease-ontology.org/term/DOID:0070339", "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "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": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "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": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-cysteine S-nitrosylation", "id": "GO:1902083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902083", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" }, { "name": "negative regulation of cellular response to oxidative stress", "id": "GO:1900408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900408", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Asn59", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FNVTAEGDHSTDDKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 59, "start_aa": "Asn", "end_pos": 59, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->HVT).", "chr_id": "10", "chr_pos": "30598747", "evidence": [ { "id": "rs215013648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215013648" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Ser498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6DFV7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DFV7" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Thr61", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVR).", "chr_id": "10", "chr_pos": "30598740", "evidence": [ { "id": "rs3389104691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389104691" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces cellular oxidative stress more than wild-type. Reduces levels of S-nitrosylated proteins in neurons. Abolishes interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces cellular oxidative stress similar to wild-type. Slightly increases levels of S-nitrosylated proteins in neurons. Abolishes interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Lys204", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Increases cellular oxidative stress compared to wild-type. Increases levels of S-nitrosylated proteins in neurons. Reduces interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Glu216", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces cellular oxidative stress similar to wild-type. Increases levels of S-nitrosylated proteins in neurons. Reduces interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Val93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Increases cellular oxidative stress compared to wild-type. Increases levels of S-nitrosylated proteins in neurons. Abolishes interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] }, { "uniprot_canonical_ac": "Q6DFV7-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asp95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Increases cellular oxidative stress compared to wild-type. Increases levels of S-nitrosylated proteins in neurons. Reduces interaction with Atp6v1b1.", "evidence": [ { "database": "UniProtKB", "id": "Q6DFV7", "url": "https://www.uniprot.org/uniprotkb/Q6DFV7" }, { "database": "PubMed", "id": "26668325", "url": "https://glygen.org/publication/PubMed/26668325" }, { "database": "PubMed", "id": "34811399", "url": "https://glygen.org/publication/PubMed/34811399" } ] } ] } ], "record_id": "Q6DFV7-1" }, { "uniprot_canonical_ac": "Q8K1N2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1249, "chemical_mass": 141486.0, "gene_names": "Phldb2;C820004H04Rik;LL5beta;LL5b;Ll5b;Phldb2", "protein_name": "Pleckstrin homology-like domain family B member 2", "disease": [], "cellular_component": [ { "name": "basal cortex", "id": "GO:0045180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045180", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of wound healing, spreading of epidermal cells", "id": "GO:1903690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903690", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "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": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "negative regulation of stress fiber assembly", "id": "GO:0051497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051497", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "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": 326, "start_aa": "Ser", "end_pos": 326, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser326", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8K1N2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Ser416", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Thr546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" }, { "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": "Q8K1N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] }, { "uniprot_canonical_ac": "Q8K1N2-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Thr894", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K1N2", "url": "https://www.uniprot.org/uniprotkb/Q8K1N2" } ] } ] } ], "record_id": "Q8K1N2-1" }, { "uniprot_canonical_ac": "Q8BM47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 761, "chemical_mass": 86553.0, "gene_names": "Plekhm3;9430067K14Rik;A230102O09Rik;DAPR;Dapr;Plekhm1l;Plekhm3", "protein_name": "Pleckstrin homology domain-containing family M member 3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "pmid": "" } ], "biological_process": [ { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BM47-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BM47", "url": "https://www.uniprot.org/uniprotkb/Q8BM47" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8BM47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BM47" } ] } ] } ], "record_id": "Q8BM47-1" }, { "uniprot_canonical_ac": "Q3V3Q7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 862, "chemical_mass": 94932.0, "gene_names": "Pacs2;6720425G15Rik;E230011J22;Kiaa0602;Pacs1l;Pacs2;mKIAA0602", "protein_name": "Phosphofurin acidic cluster sorting protein 2", "disease": [ { "disease_id": "DOID:0080446", "name": "developmental and epileptic encephalopathy 66", "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0080446", "evidence": [ { "id": "0080446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080446" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "endoplasmic reticulum calcium ion homeostasis", "id": "GO:0032469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032469", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "mitochondrion-endoplasmic reticulum membrane tethering", "id": "GO:1990456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990456", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Thr385", "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": 385, "start_aa": "Thr", "end_pos": 385, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr385", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q3V3Q7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V3Q7" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "12", "chr_pos": "113024363", "evidence": [ { "id": "rs3389231806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231806" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Thr393", "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": 393, "start_aa": "Thr", "end_pos": 393, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr393", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q3V3Q7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V3Q7" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Thr695", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 695, "start_aa": "Thr", "end_pos": 695, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr695", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3V3Q7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3V3Q7" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ser424", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Ser662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3V3Q7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3V3Q7" } ] } ] }, { "uniprot_canonical_ac": "Q3V3Q7-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V3Q7", "url": "https://www.uniprot.org/uniprotkb/Q3V3Q7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3V3Q7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3V3Q7" } ] } ] } ], "record_id": "Q3V3Q7-1" }, { "uniprot_canonical_ac": "B2RXZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 531, "chemical_mass": 61292.0, "gene_names": "Pnldc1;Gm313;Pnldc1", "protein_name": "Poly(A)-specific ribonuclease PNLDC1", "disease": [ { "disease_id": "DOID:0112338", "name": "spermatogenic failure 57", "description": "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3.", "url": "https://disease-ontology.org/term/DOID:0112338", "evidence": [ { "id": "0112338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112338" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "priRNA 3'-end processing", "id": "GO:1990431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990431", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "siRNA 3'-end processing", "id": "GO:1990432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990432", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" }, { "name": "RNA metabolic process", "id": "GO:0016070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016070", "evidence": [ { "database": "UniProtKB", "id": "B2RXZ1", "url": "https://www.uniprot.org/uniprotkb/B2RXZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B2RXZ1-1" }, { "uniprot_canonical_ac": "P84228-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 136, "chemical_mass": 15388.0, "gene_names": "H3c13;H3c14;H3c15;H3c2;H3c3;H3c4;H3c6;H3c7;H3-143;H3-53;H3-B;H3-F;H3.2-221;H3.2-614;H3.2-615;H3.2-616;H3.2;H3b;H3c13;H3c14;H3c15;H3c2;H3c3;H3c4;H3c6;H3c7;H3f;Hist1h3b;Hist1h3c;Hist1h3d;Hist1h3e;Hist1h3f;Hist1;Hist2h3b;Hist2h3c1;Hist2h3c2;Hist2h3ca1;Hist2h3ca2", "protein_name": "Histone H3.2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P84228-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Thr108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" }, { "database": "iPTMnet", "id": "P84228", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84228" }, { "database": "PubMed", "id": "10464286", "url": "https://glygen.org/publication/PubMed/10464286" }, { "database": "PubMed", "id": "11856369", "url": "https://glygen.org/publication/PubMed/11856369" }, { "database": "PubMed", "id": "15681610", "url": "https://glygen.org/publication/PubMed/15681610" }, { "database": "PubMed", "id": "15735677", "url": "https://glygen.org/publication/PubMed/15735677" }, { "database": "PubMed", "id": "15870105", "url": "https://glygen.org/publication/PubMed/15870105" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" }, { "database": "iPTMnet", "id": "P84228", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84228" }, { "database": "PubMed", "id": "10464286", "url": "https://glygen.org/publication/PubMed/10464286" }, { "database": "PubMed", "id": "11441012", "url": "https://glygen.org/publication/PubMed/11441012" }, { "database": "PubMed", "id": "11856369", "url": "https://glygen.org/publication/PubMed/11856369" }, { "database": "PubMed", "id": "15684425", "url": "https://glygen.org/publication/PubMed/15684425" }, { "database": "PubMed", "id": "15735677", "url": "https://glygen.org/publication/PubMed/15735677" }, { "database": "PubMed", "id": "15870105", "url": "https://glygen.org/publication/PubMed/15870105" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Tyr42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" }, { "database": "iPTMnet", "id": "P84228", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P84228" }, { "database": "PubMed", "id": "15681610", "url": "https://glygen.org/publication/PubMed/15681610" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] }, { "uniprot_canonical_ac": "P84228-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84228", "url": "https://www.uniprot.org/uniprotkb/P84228" } ] } ] } ], "record_id": "P84228-1" }, { "uniprot_canonical_ac": "Q8BQM4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 679, "chemical_mass": 74305.0, "gene_names": "Heatr3;C030036P15Rik;Heatr3", "protein_name": "HEAT repeat-containing protein 3", "disease": [ { "disease_id": "DOID:1339", "name": "Diamond-Blackfan anemia", "description": "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.", "url": "https://disease-ontology.org/term/DOID:1339", "evidence": [ { "id": "1339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1339" } ], "weight": 0.0 } ], "biological_process": [ { "name": "erythrocyte maturation", "id": "GO:0043249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043249", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" }, { "name": "ribosomal large subunit biogenesis", "id": "GO:0042273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042273", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BQM4-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSACGGFDVCDDMVAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "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": "Q8BQM4-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BQM4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BQM4" } ] } ] }, { "uniprot_canonical_ac": "Q8BQM4-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BQM4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BQM4" } ] } ] }, { "uniprot_canonical_ac": "Q8BQM4-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Thr339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BQM4", "url": "https://www.uniprot.org/uniprotkb/Q8BQM4" } ] } ] }, { "uniprot_canonical_ac": "Q8BQM4-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "8", "chr_pos": "88866529", "evidence": [ { "id": "rs3388975427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388975427" } ] } ] }, { "uniprot_canonical_ac": "Q8BQM4-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Asp573", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "8", "chr_pos": "88891636", "evidence": [ { "id": "rs254286317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254286317" } ] } ] } ], "record_id": "Q8BQM4-1" }, { "uniprot_canonical_ac": "Q9JKS5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 411, "chemical_mass": 45924.0, "gene_names": "Habp4;4933413D03Rik;4933428J01Rik;Habp4", "protein_name": "Intracellular hyaluronan-binding protein 4", "disease": [], "biological_process": [ { "name": "PML body organization", "id": "GO:0030578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030578", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "hyaluronan metabolic process", "id": "GO:0030212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030212", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "ribosome hibernation", "id": "GO:0141014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141014", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "translation elongation factor binding", "id": "GO:0061770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061770", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "hyaluronic acid binding", "id": "GO:0005540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005540", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "SUMO binding", "id": "GO:0032183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032183", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" }, { "name": "Gemini of Cajal bodies", "id": "GO:0097504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097504", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Thr373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS5", "url": "https://www.uniprot.org/uniprotkb/Q9JKS5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS5" } ] } ] }, { "uniprot_canonical_ac": "Q9JKS5-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Val9", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "13", "chr_pos": "64309825", "evidence": [ { "id": "rs3404188574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404188574" } ] } ] } ], "record_id": "Q9JKS5-1" }, { "uniprot_canonical_ac": "P62806-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 103, "chemical_mass": 11367.0, "gene_names": "H4c11;H4c12;H4c14;H4c16;H4c1;H4c2;H4c3;H4c4;H4c6;H4c8;H4c9;Hist1h4m;Gm11275;H4-12;H4-53;H4c11;H4c12;H4c14;H4c16;H4c17;H4c1;H4c2;H4c3;H4c4;H4c6;H4c8;H4c9;H4f16;Hist1h4a;Hist1h4b;Hist1h4c;Hist1h4d;Hist1h4f;Hist1h4h;Hist1h4i;Hist1h4j;Hist1h4k;Hist1h4m;Hist2h4a;Hist2h4;Hist4h4", "protein_name": "Histone H4", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "CENP-A containing nucleosome", "id": "GO:0043505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043505", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" }, { "name": "protein localization to CENP-A containing chromatin", "id": "GO:0061644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061644", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62806-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Thr31", "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": 31, "start_aa": "Thr", "end_pos": 31, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr31", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P62806", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P62806" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "P62806", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P62806" } ] } ] }, { "uniprot_canonical_ac": "P62806-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" }, { "database": "PubMed", "id": "16980586", "url": "https://glygen.org/publication/PubMed/16980586" }, { "database": "iPTMnet", "id": "P62806", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62806" } ] } ] }, { "uniprot_canonical_ac": "P62806-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62806", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62806" } ] } ] }, { "uniprot_canonical_ac": "P62806-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Tyr52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62806", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62806" } ] } ] }, { "uniprot_canonical_ac": "P62806-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P62806", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62806" } ] } ] }, { "uniprot_canonical_ac": "P62806-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Tyr89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62806", "url": "https://www.uniprot.org/uniprotkb/P62806" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P62806", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62806" } ] } ] } ], "record_id": "P62806-1" }, { "uniprot_canonical_ac": "P68433-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 136, "chemical_mass": 15404.0, "gene_names": "H3c10;H3c11;H3c1;H3c8;H3.1-221;H3.1-291;H3.1-I;H3a;H3c10;H3c11;H3c1;H3c8;H3g;H3h;H3i;Hist1h3a;Hist1h3g;Hist1h3h;Hist1h3i", "protein_name": "Histone H3.1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68433-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Thr108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P97477-1", "kinase_gene_name": "Aurka", "evidence": [ { "database": "iPTMnet", "id": "P68433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68433" }, { "database": "PubMed", "id": "12234980", "url": "https://glygen.org/publication/PubMed/12234980" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" }, { "database": "iPTMnet", "id": "P68433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68433" }, { "database": "PubMed", "id": "10464286", "url": "https://glygen.org/publication/PubMed/10464286" }, { "database": "PubMed", "id": "11856369", "url": "https://glygen.org/publication/PubMed/11856369" }, { "database": "PubMed", "id": "15681610", "url": "https://glygen.org/publication/PubMed/15681610" }, { "database": "PubMed", "id": "15735677", "url": "https://glygen.org/publication/PubMed/15735677" }, { "database": "PubMed", "id": "15870105", "url": "https://glygen.org/publication/PubMed/15870105" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Arg129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Arg130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Arg132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" }, { "database": "iPTMnet", "id": "P68433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68433" }, { "database": "PubMed", "id": "10464286", "url": "https://glygen.org/publication/PubMed/10464286" }, { "database": "PubMed", "id": "11441012", "url": "https://glygen.org/publication/PubMed/11441012" }, { "database": "PubMed", "id": "11856369", "url": "https://glygen.org/publication/PubMed/11856369" }, { "database": "PubMed", "id": "15684425", "url": "https://glygen.org/publication/PubMed/15684425" }, { "database": "PubMed", "id": "15735677", "url": "https://glygen.org/publication/PubMed/15735677" }, { "database": "PubMed", "id": "15870105", "url": "https://glygen.org/publication/PubMed/15870105" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Arg3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Tyr42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" }, { "database": "iPTMnet", "id": "P68433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P68433" }, { "database": "PubMed", "id": "15681610", "url": "https://glygen.org/publication/PubMed/15681610" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] }, { "uniprot_canonical_ac": "P68433-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68433", "url": "https://www.uniprot.org/uniprotkb/P68433" } ] } ] } ], "record_id": "P68433-1" }, { "uniprot_canonical_ac": "Q3UHX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 20605.0, "gene_names": "Pdap1;HASPP28;PAP1;PAP;Pdap1", "protein_name": "28 kDa heat- and acid-stable phosphoprotein", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "pmid": "" } ], "biological_process": [ { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "pmid": "" } ], "molecular_function": [ { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "iPTMnet", "id": "Q3UHX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UHX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHX2" } ] } ] }, { "uniprot_canonical_ac": "Q3UHX2-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Tyr70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UHX2", "url": "https://www.uniprot.org/uniprotkb/Q3UHX2" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q3UHX2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UHX2" } ] } ] } ], "record_id": "Q3UHX2-1" }, { "uniprot_canonical_ac": "Q69ZS7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 682, "chemical_mass": 75100.0, "gene_names": "Hbs1l;2810035F15Rik;Gm9923;Hbs1l;Hbs1;Kiaa1038;eRFS", "protein_name": "HBS1-like protein", "disease": [ { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 } ], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, no-go decay", "id": "GO:0070966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070966", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "Dom34-Hbs1 complex", "id": "GO:1990533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990533", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Thr231", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 231, "start_aa": "Thr", "end_pos": 231, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr231", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Asn449", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72787SB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ESDVAFIPTSGLSGENLTAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 449, "start_aa": "Asn", "end_pos": 449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn449", "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": "Q69ZS7-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ] } ] }, { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZS7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZS7" } ] } ] }, { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q69ZS7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69ZS7" } ] } ] }, { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Thr229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ] } ] }, { "uniprot_canonical_ac": "Q69ZS7-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q69ZS7", "url": "https://www.uniprot.org/uniprotkb/Q69ZS7" } ] } ] } ], "record_id": "Q69ZS7-1" }, { "uniprot_canonical_ac": "Q9EP66-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 360, "chemical_mass": 41401.0, "gene_names": "Hcar2;Gpr109a;Gpr109b;Gpr109;HM74;Hcar2;Niacr1;PUMA-G;Pumag;mHM74b", "protein_name": "Hydroxycarboxylic acid receptor 2", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "purinergic nucleotide receptor activity", "id": "GO:0001614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001614", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "nicotinic acid receptor activity", "id": "GO:0070553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070553", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "positive regulation of neutrophil apoptotic process", "id": "GO:0033031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033031", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" }, { "name": "positive regulation of adiponectin secretion", "id": "GO:0070165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070165", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EP66-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EP66", "url": "https://www.uniprot.org/uniprotkb/Q9EP66" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EP66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EP66" } ] } ] } ], "record_id": "Q9EP66-1" }, { "uniprot_canonical_ac": "Q9WU19-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 41001.0, "gene_names": "Hao1;GOX;Gox1;Hao-1;Hao1", "protein_name": "2-Hydroxyacid oxidase 1", "disease": [], "biological_process": [ { "name": "glycine biosynthetic process", "id": "GO:0006545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006545", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "fatty acid alpha-oxidation", "id": "GO:0001561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001561", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "glycolate catabolic process", "id": "GO:0046296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046296", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" } ], "molecular_function": [ { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "(S)-2-hydroxy-acid oxidase activity", "id": "GO:0003973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003973", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" }, { "name": "glyoxylate oxidase activity", "id": "GO:0047969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047969", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WU19-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" }, { "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": "Q9WU19", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WU19" } ] } ] }, { "uniprot_canonical_ac": "Q9WU19-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WU19", "url": "https://www.uniprot.org/uniprotkb/Q9WU19" } ] } ] } ], "record_id": "Q9WU19-1" }, { "uniprot_canonical_ac": "Q61191-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2045, "chemical_mass": 210437.0, "gene_names": "Hcfc1;HCF1;HCF;Hcfc1", "protein_name": "Host cell factor 1", "disease": [ { "disease_id": "DOID:0111814", "name": "methylmalonic acidemia and homocysteinemia cblX type", "description": "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111814", "evidence": [ { "id": "0111814", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111814" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 } ], "biological_process": [ { "name": "release from viral latency", "id": "GO:0019046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019046", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "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": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "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": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "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": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "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": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "NSL complex", "id": "GO:0044545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044545", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044665", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Thr1055", "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": 1055, "start_aa": "Thr", "end_pos": 1055, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1055", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1058", "end_pos": "1058", "site_lbl": "Ser1058", "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": 1058, "start_aa": "Ser", "end_pos": 1058, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1058", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1061", "end_pos": "1061", "site_lbl": "Thr1061", "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": 1061, "start_aa": "Thr", "end_pos": 1061, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1061", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1062", "end_pos": "1062", "site_lbl": "Ser1062", "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": 1062, "start_aa": "Ser", "end_pos": 1062, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1062", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1138", "end_pos": "1138", "site_lbl": "Thr1138", "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": 1138, "start_aa": "Thr", "end_pos": 1138, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1138", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Thr1139", "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": 1139, "start_aa": "Thr", "end_pos": 1139, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1139", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1148", "end_pos": "1148", "site_lbl": "Thr1148", "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": 1148, "start_aa": "Thr", "end_pos": 1148, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1148", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1195", "end_pos": "1195", "site_lbl": "Ser1195", "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": 1195, "start_aa": "Ser", "end_pos": 1195, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1195", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Ser1220", "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": 1220, "start_aa": "Ser", "end_pos": 1220, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1220", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Ser1223", "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": 1223, "start_aa": "Ser", "end_pos": 1223, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1223", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1224", "end_pos": "1224", "site_lbl": "Ser1224", "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": 1224, "start_aa": "Ser", "end_pos": 1224, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1224", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1235", "end_pos": "1235", "site_lbl": "Thr1235", "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": 1235, "start_aa": "Thr", "end_pos": 1235, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1235", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1238", "end_pos": "1238", "site_lbl": "Thr1238", "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": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Thr1240", "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": 1240, "start_aa": "Thr", "end_pos": 1240, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1240", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "X", "chr_pos": "72993445", "evidence": [ { "id": "rs3410566955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410566955" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Thr1241", "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": 1241, "start_aa": "Thr", "end_pos": 1241, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1241", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Thr1243", "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": 1243, "start_aa": "Thr", "end_pos": 1243, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1243", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Thr1245", "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": 1245, "start_aa": "Thr", "end_pos": 1245, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1245", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Thr1246", "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": 1246, "start_aa": "Thr", "end_pos": 1246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1246", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1247", "end_pos": "1247", "site_lbl": "Thr1247", "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": 1247, "start_aa": "Thr", "end_pos": 1247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1247", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1495", "end_pos": "1495", "site_lbl": "Thr1495", "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": 1495, "start_aa": "Thr", "end_pos": 1495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1495", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "X", "chr_pos": "72992548", "evidence": [ { "id": "rs3389576556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389576556" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1497", "end_pos": "1497", "site_lbl": "Thr1497", "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": 1497, "start_aa": "Thr", "end_pos": 1497, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1497", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1499", "end_pos": "1499", "site_lbl": "Ser1499", "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": 1499, "start_aa": "Ser", "end_pos": 1499, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1499", "evidence": [ { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1500", "end_pos": "1500", "site_lbl": "Thr1500", "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": 1500, "start_aa": "Thr", "end_pos": 1500, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1500", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1506", "end_pos": "1506", "site_lbl": "Ser1506", "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": 1506, "start_aa": "Ser", "end_pos": 1506, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1506", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Thr1587", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1587, "start_aa": "Thr", "end_pos": 1587, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1587", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "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": 405, "start_aa": "Thr", "end_pos": 405, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr405", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "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": 411, "start_aa": "Ser", "end_pos": 411, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser411", "evidence": [ { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "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": 419, "start_aa": "Ser", "end_pos": 419, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser419", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Thr453", "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": 453, "start_aa": "Thr", "end_pos": 453, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr453", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Thr480", "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": 480, "start_aa": "Thr", "end_pos": 480, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr480", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Thr490", "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": 490, "start_aa": "Thr", "end_pos": 490, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr490", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Thr495", "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": 495, "start_aa": "Thr", "end_pos": 495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Thr496", "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": 496, "start_aa": "Thr", "end_pos": 496, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr496", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "X", "chr_pos": "72998307", "evidence": [ { "id": "rs3412990511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412990511" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Thr498", "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": 498, "start_aa": "Thr", "end_pos": 498, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr498", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Thr502", "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": 502, "start_aa": "Thr", "end_pos": 502, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr502", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Ser507", "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": 507, "start_aa": "Ser", "end_pos": 507, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser507", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Thr515", "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": 515, "start_aa": "Thr", "end_pos": 515, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr515", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Thr517", "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": 517, "start_aa": "Thr", "end_pos": 517, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr517", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "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": 518, "start_aa": "Ser", "end_pos": 518, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser518", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "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": 522, "start_aa": "Ser", "end_pos": 522, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser522", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Thr529", "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": 529, "start_aa": "Thr", "end_pos": 529, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr529", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "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": 544, "start_aa": "Ser", "end_pos": 544, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser544", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Ser562", "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": 562, "start_aa": "Ser", "end_pos": 562, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser562", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "X", "chr_pos": "72997050", "evidence": [ { "id": "rs3410826539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410826539" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "X", "chr_pos": "72997049", "evidence": [ { "id": "rs3410679049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410679049" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ser563", "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": 563, "start_aa": "Ser", "end_pos": 563, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser563", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Thr566", "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": 566, "start_aa": "Thr", "end_pos": 566, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr566", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "X", "chr_pos": "72997037", "evidence": [ { "id": "rs3410934132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410934132" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ser569", "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": 569, "start_aa": "Ser", "end_pos": 569, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser569", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Thr574", "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": 574, "start_aa": "Thr", "end_pos": 574, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr574", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Thr575", "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": 575, "start_aa": "Thr", "end_pos": 575, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr575", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Thr579", "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": 579, "start_aa": "Thr", "end_pos": 579, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr579", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Thr583", "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": 583, "start_aa": "Thr", "end_pos": 583, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr583", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 583, "start_aa": "Thr", "end_pos": 583, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr583", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Thr586", "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": 586, "start_aa": "Thr", "end_pos": 586, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr586", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Thr587", "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": 587, "start_aa": "Thr", "end_pos": 587, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr587", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Thr588", "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": 588, "start_aa": "Thr", "end_pos": 588, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr588", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Thr592", "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": 592, "start_aa": "Thr", "end_pos": 592, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr592", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Ser597", "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": 597, "start_aa": "Ser", "end_pos": 597, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser597", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "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": 598, "start_aa": "Ser", "end_pos": 598, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser598", "evidence": [ { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "X", "chr_pos": "72996941", "evidence": [ { "id": "rs3389579800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389579800" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Ser603", "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": 603, "start_aa": "Ser", "end_pos": 603, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser603", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Thr612", "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": 612, "start_aa": "Thr", "end_pos": 612, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr612", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Thr619", "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": 619, "start_aa": "Thr", "end_pos": 619, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr619", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ser620", "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": 620, "start_aa": "Ser", "end_pos": 620, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser620", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "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": 622, "start_aa": "Ser", "end_pos": 622, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser622", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Ser623", "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": 623, "start_aa": "Ser", "end_pos": 623, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser623", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Thr627", "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": 627, "start_aa": "Thr", "end_pos": 627, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr627", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Ser628", "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": 628, "start_aa": "Ser", "end_pos": 628, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser628", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "X", "chr_pos": "72996577", "evidence": [ { "id": "rs3389560581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389560581" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Thr629", "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": 629, "start_aa": "Thr", "end_pos": 629, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr629", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Thr634", "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": 634, "start_aa": "Thr", "end_pos": 634, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr634", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Ser638", "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": 638, "start_aa": "Ser", "end_pos": 638, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser638", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Thr640", "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": 640, "start_aa": "Thr", "end_pos": 640, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr640", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Thr642", "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": 642, "start_aa": "Thr", "end_pos": 642, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr642", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Thr651", "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": 651, "start_aa": "Thr", "end_pos": 651, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr651", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Thr652", "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": 652, "start_aa": "Thr", "end_pos": 652, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr652", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Thr658", "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": 658, "start_aa": "Thr", "end_pos": 658, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr658", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "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": 666, "start_aa": "Ser", "end_pos": 666, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser666", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61191", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ser669", "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": 669, "start_aa": "Ser", "end_pos": 669, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser669", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "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": 678, "start_aa": "Ser", "end_pos": 678, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser678", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "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": 685, "start_aa": "Ser", "end_pos": 685, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser685", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Thr689", "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": 689, "start_aa": "Thr", "end_pos": 689, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr689", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Thr694", "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": 694, "start_aa": "Thr", "end_pos": 694, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr694", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Ser695", "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": 695, "start_aa": "Ser", "end_pos": 695, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser695", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Thr698", "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": 698, "start_aa": "Thr", "end_pos": 698, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr698", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "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": 702, "start_aa": "Ser", "end_pos": 702, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser702", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Thr703", "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": 703, "start_aa": "Thr", "end_pos": 703, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr703", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Thr707", "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": 707, "start_aa": "Thr", "end_pos": 707, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr707", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "X", "chr_pos": "72996181", "evidence": [ { "id": "rs3389563304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389563304" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Thr726", "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": 726, "start_aa": "Thr", "end_pos": 726, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr726", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Ser727", "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": 727, "start_aa": "Ser", "end_pos": 727, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser727", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Thr733", "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": 733, "start_aa": "Thr", "end_pos": 733, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr733", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Thr734", "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": 734, "start_aa": "Thr", "end_pos": 734, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr734", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Thr737", "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": 737, "start_aa": "Thr", "end_pos": 737, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr737", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Thr738", "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": 738, "start_aa": "Thr", "end_pos": 738, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr738", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Thr739", "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": 739, "start_aa": "Thr", "end_pos": 739, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr739", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "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": 742, "start_aa": "Ser", "end_pos": 742, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser742", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Thr746", "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": 746, "start_aa": "Thr", "end_pos": 746, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr746", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Thr749", "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": 749, "start_aa": "Thr", "end_pos": 749, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr749", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Ser754", "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": 754, "start_aa": "Ser", "end_pos": 754, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser754", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "X", "chr_pos": "72995871", "evidence": [ { "id": "rs3389532892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532892" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "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": 755, "start_aa": "Ser", "end_pos": 755, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser755", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Thr760", "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": 760, "start_aa": "Thr", "end_pos": 760, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr760", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Thr761", "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": 761, "start_aa": "Thr", "end_pos": 761, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr761", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Thr765", "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": 765, "start_aa": "Thr", "end_pos": 765, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr765", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Thr771", "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": 771, "start_aa": "Thr", "end_pos": 771, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr771", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ser775", "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": 775, "start_aa": "Ser", "end_pos": 775, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser775", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Thr779", "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": 779, "start_aa": "Thr", "end_pos": 779, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr779", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Thr784", "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": 784, "start_aa": "Thr", "end_pos": 784, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr784", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Thr787", "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": 787, "start_aa": "Thr", "end_pos": 787, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr787", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Ser788", "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": 788, "start_aa": "Ser", "end_pos": 788, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser788", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Ser794", "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": 794, "start_aa": "Ser", "end_pos": 794, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser794", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "27669760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27669760" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Thr797", "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": 797, "start_aa": "Thr", "end_pos": 797, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr797", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Thr800", "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": 800, "start_aa": "Thr", "end_pos": 800, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr800", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Thr801", "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": 801, "start_aa": "Thr", "end_pos": 801, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr801", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "35469018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35469018" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Thr805", "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": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Ser806", "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": 806, "start_aa": "Ser", "end_pos": 806, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser806", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "10.3389/fragi.2021.757801", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.3389/fragi.2021.757801" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Thr808", "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": 808, "start_aa": "Thr", "end_pos": 808, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr808", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "823", "end_pos": "823", "site_lbl": "Thr823", "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": 823, "start_aa": "Thr", "end_pos": 823, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr823", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "831", "end_pos": "831", "site_lbl": "Thr831", "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": 831, "start_aa": "Thr", "end_pos": 831, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr831", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Thr858", "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": 858, "start_aa": "Thr", "end_pos": 858, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr858", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Thr861", "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": 861, "start_aa": "Thr", "end_pos": 861, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr861", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ser863", "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": 863, "start_aa": "Ser", "end_pos": 863, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser863", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "870", "end_pos": "870", "site_lbl": "Thr870", "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": 870, "start_aa": "Thr", "end_pos": 870, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr870", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Thr871", "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": 871, "start_aa": "Thr", "end_pos": 871, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr871", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q61191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61191" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "40754593", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40754593" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "36064721", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36064721" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "31227231", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31227231" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "Q61191", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Ser1204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1516", "end_pos": "1516", "site_lbl": "Ser1516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61191", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1781", "end_pos": "1781", "site_lbl": "Ser1781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1848", "end_pos": "1848", "site_lbl": "Ser1848", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61191", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61191", "url": "https://www.uniprot.org/uniprotkb/Q61191" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "1173", "end_pos": "1173", "site_lbl": "Thr1173", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "X", "chr_pos": "72993646", "evidence": [ { "id": "rs3389544376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544376" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ile330", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (INT->NNT).", "chr_id": "X", "chr_pos": "72999156", "evidence": [ { "id": "rs3389559272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389559272" } ] } ] }, { "uniprot_canonical_ac": "Q61191-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ile814", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IIT->NIT).", "chr_id": "X", "chr_pos": "72995587", "evidence": [ { "id": "rs3389563315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389563315" } ] } ] } ], "record_id": "Q61191-1" }, { "uniprot_canonical_ac": "Q8VHD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2496, "chemical_mass": 247587.0, "gene_names": "Hrnr", "protein_name": "Hornerin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "keratohyalin granule", "id": "GO:0036457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036457", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" } ], "biological_process": [ { "name": "keratinization", "id": "GO:0031424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031424", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "cell envelope organization", "id": "GO:0043163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043163", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSISSSAGENDSYSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "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": "Q8VHD8-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Ser1229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "1551", "end_pos": "1551", "site_lbl": "Ser1551", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "1553", "end_pos": "1553", "site_lbl": "Ser1553", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "1650", "end_pos": "1650", "site_lbl": "Ser1650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "2011", "end_pos": "2011", "site_lbl": "Ser2011", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "2109", "end_pos": "2109", "site_lbl": "Ser2109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "2124", "end_pos": "2124", "site_lbl": "Ser2124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "2353", "end_pos": "2353", "site_lbl": "Ser2353", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Ser506", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Ser716", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ser815", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD8", "url": "https://www.uniprot.org/uniprotkb/Q8VHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Ser146", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "3", "chr_pos": "93230200", "evidence": [ { "id": "rs213406044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213406044" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Lys295", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "3", "chr_pos": "93230648", "evidence": [ { "id": "rs33029191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33029191" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Gly336", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHG->NHS).", "chr_id": "3", "chr_pos": "93230769", "evidence": [ { "id": "rs212687933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212687933" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Asn383", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYN->NYS).", "chr_id": "3", "chr_pos": "93230911", "evidence": [ { "id": "rs579590858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579590858" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "486", "end_pos": "486", "site_lbl": "His486", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HGS->NGS).", "chr_id": "3", "chr_pos": "93231219", "evidence": [ { "id": "rs3541572184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541572184" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD8-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ser700", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "3", "chr_pos": "93231862", "evidence": [ { "id": "rs47593113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47593113" } ] } ] } ], "record_id": "Q8VHD8-1" }, { "uniprot_canonical_ac": "Q3U487-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 861, "chemical_mass": 97347.0, "gene_names": "Hectd3;1700064K09Rik;Hectd3", "protein_name": "E3 ubiquitin-protein ligase HECTD3", "disease": [], "cellular_component": [ { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" } ], "biological_process": [ { "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": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" } ], "molecular_function": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U487-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U487", "url": "https://www.uniprot.org/uniprotkb/Q3U487" } ] } ] } ], "record_id": "Q3U487-1" }, { "uniprot_canonical_ac": "Q3V016-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 616, "chemical_mass": 69279.0, "gene_names": "Hipk4;Gm162;Hipk4", "protein_name": "Homeodomain-interacting protein kinase 4", "disease": [ { "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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "histone kinase activity", "id": "GO:0035173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035173", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3V016-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3V016", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3V016" } ] } ] }, { "uniprot_canonical_ac": "Q3V016-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Lys40", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3V016", "url": "https://www.uniprot.org/uniprotkb/Q3V016" }, { "database": "PubMed", "id": "18022393", "url": "https://glygen.org/publication/PubMed/18022393" } ] } ] } ], "record_id": "Q3V016-1" }, { "uniprot_canonical_ac": "Q5EBG6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 162, "chemical_mass": 17521.0, "gene_names": "Hspb6;Gm479;Hsp20;Hspb6", "protein_name": "Heat shock protein beta-6", "disease": [ { "disease_id": "DOID:0080093", "name": "adult-onset myofibrillar myopathy 2A", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080093", "evidence": [ { "id": "0080093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080093" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "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": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5EBG6-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 147, "start_aa": "Thr", "end_pos": 147, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr147", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5EBG6-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" } ] } ] }, { "uniprot_canonical_ac": "Q5EBG6-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5EBG6", "url": "https://www.uniprot.org/uniprotkb/Q5EBG6" }, { "database": "PubMed", "id": "21334344", "url": "https://glygen.org/publication/PubMed/21334344" }, { "database": "iPTMnet", "id": "Q5EBG6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5EBG6" }, { "database": "PubMed", "id": "20854253", "url": "https://glygen.org/publication/PubMed/20854253" }, { "database": "PubMed", "id": "22260692", "url": "https://glygen.org/publication/PubMed/22260692" }, { "database": "PubMed", "id": "23713735", "url": "https://glygen.org/publication/PubMed/23713735" } ] } ] } ], "record_id": "Q5EBG6-1" }, { "uniprot_canonical_ac": "Q6ZPR6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1352, "chemical_mass": 149569.0, "gene_names": "Ibtk;5430411K16Rik;BTKI;Ibtk;Kiaa1417;mKIAA1417", "protein_name": "Inhibitor of Bruton tyrosine kinase", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" }, { "name": "protein tyrosine kinase inhibitor activity", "id": "GO:0030292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030292", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1005", "end_pos": "1005", "site_lbl": "Ser1005", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1031", "end_pos": "1031", "site_lbl": "Ser1031", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1034", "end_pos": "1034", "site_lbl": "Ser1034", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1040", "end_pos": "1040", "site_lbl": "Ser1040", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1046", "end_pos": "1046", "site_lbl": "Ser1046", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6ZPR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Ser1055", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1084", "end_pos": "1084", "site_lbl": "Ser1084", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1111", "end_pos": "1111", "site_lbl": "Ser1111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1113", "end_pos": "1113", "site_lbl": "Ser1113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Ser1116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPR6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPR6-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Ser991", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPR6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPR6" } ] } ] } ], "record_id": "Q6ZPR6-1" }, { "uniprot_canonical_ac": "Q8R1H0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 73, "chemical_mass": 8282.0, "gene_names": "Hopx;1110018K11Rik;1200015P04Rik;2300002F06Rik;Cameo;Hdop;Hod;Hopx;Hop;Ob1;Obl;Toto", "protein_name": "Homeodomain-only protein", "disease": [ { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "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": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "positive regulation of gap junction assembly", "id": "GO:1903598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903598", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue regeneration", "id": "GO:0043415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043415", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "positive regulation of striated muscle cell differentiation", "id": "GO:0051155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051155", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "histone deacetylase regulator activity", "id": "GO:0035033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035033", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R1H0", "url": "https://www.uniprot.org/uniprotkb/Q8R1H0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R1H0-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Thr10", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8R1H0-1" }, { "uniprot_canonical_ac": "Q9CYW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CYW4", "url": "https://www.uniprot.org/uniprotkb/Q9CYW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 251, "chemical_mass": 28027.0, "gene_names": "Hdhd3;2810435D12Rik;Hdhd3", "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CYW4", "url": "https://www.uniprot.org/uniprotkb/Q9CYW4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CYW4", "url": "https://www.uniprot.org/uniprotkb/Q9CYW4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CYW4", "url": "https://www.uniprot.org/uniprotkb/Q9CYW4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CYW4-1" }, { "uniprot_canonical_ac": "Q9D0S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 163, "chemical_mass": 17320.0, "gene_names": "Hint2;1190005L05Rik;Hint2", "protein_name": "Adenosine 5'-monophosphoramidase HINT2", "disease": [ { "disease_id": "DOID:0050526", "name": "Gamstorp-Wohlfart syndrome", "description": "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.", "url": "https://disease-ontology.org/term/DOID:0050526", "evidence": [ { "id": "0050526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050526" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "adenosine 5'-monophosphoramidase activity", "id": "GO:0043530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043530", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-lysine acetylation", "id": "GO:2000757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000757", "evidence": [ { "database": "UniProtKB", "id": "Q9D0S9", "url": "https://www.uniprot.org/uniprotkb/Q9D0S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D0S9-1" }, { "uniprot_canonical_ac": "Q9ERZ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 55043.0, "gene_names": "Hemgn;4921524M03Rik;EDAG;Hemgn;Hgn;Ndr;mNDR", "protein_name": "Hemogen", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Thr286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 286, "start_aa": "Thr", "end_pos": 286, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr286", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Ser228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ERZ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ] } ] }, { "uniprot_canonical_ac": "Q9ERZ0-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERZ0", "url": "https://www.uniprot.org/uniprotkb/Q9ERZ0" } ] } ] } ], "record_id": "Q9ERZ0-1" }, { "uniprot_canonical_ac": "Q9JK92-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 21533.0, "gene_names": "Hspb8;Cryac;D5Ucla4;E2IG1;H11K;H11;HSP20-like;HSP22;Hsp22;Hspb8", "protein_name": "Heat shock protein beta-8", "disease": [ { "disease_id": "DOID:0051045", "name": "myofibrillar myopathy 13 with rimmed vacuoles", "description": "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0051045", "evidence": [ { "id": "0051045", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051045" } ], "weight": 0.0 }, { "disease_id": "DOID:0110174", "name": "Charcot-Marie-Tooth disease axonal type 2L", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.", "url": "https://disease-ontology.org/term/DOID:0110174", "evidence": [ { "id": "0110174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110174" } ], "weight": 0.0 }, { "disease_id": "DOID:0111206", "name": "autosomal dominant distal hereditary motor neuronopathy 2", "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0111206", "evidence": [ { "id": "0111206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111206" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "protein folding chaperone complex", "id": "GO:0101031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101031", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" }, { "name": "positive regulation of aggrephagy", "id": "GO:1905337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905337", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JK92-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ] } ] }, { "uniprot_canonical_ac": "Q9JK92-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ] } ] }, { "uniprot_canonical_ac": "Q9JK92-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Thr63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" } ] } ] }, { "uniprot_canonical_ac": "Q9JK92-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Ser87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JK92", "url": "https://www.uniprot.org/uniprotkb/Q9JK92" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9JK92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JK92" } ] } ] } ], "record_id": "Q9JK92-1" }, { "uniprot_canonical_ac": "Q9DB07-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 34054.0, "gene_names": "Ift46;1500035H01Rik;Ift46;c11orf2", "protein_name": "Intraflagellar transport protein 46 homolog", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "intraciliary anterograde transport", "id": "GO:0035720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" }, { "name": "cilium-dependent cell motility", "id": "GO:0060285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060285", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DB07-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Thr283", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DB07", "url": "https://www.uniprot.org/uniprotkb/Q9DB07" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DB07", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DB07" } ] } ] } ], "record_id": "Q9DB07-1" }, { "uniprot_canonical_ac": "Q8BKE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 600, "chemical_mass": 69301.0, "gene_names": "Ift74;1700029H06Rik;Ccdc2;Cmg1;Ift74;b2b796Clo", "protein_name": "Intraflagellar transport protein 74 homolog", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", "url": "https://disease-ontology.org/term/DOID:0050777", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ], "weight": 0.0 }, { "disease_id": "DOID:0081011", "name": "Bardet-Biedl syndrome 22", "description": "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.", "url": "https://disease-ontology.org/term/DOID:0081011", "evidence": [ { "id": "0081011", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081011" } ], "weight": 0.0 }, { "disease_id": "DOID:0112352", "name": "spermatogenic failure 58", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2.", "url": "https://disease-ontology.org/term/DOID:0112352", "evidence": [ { "id": "0112352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112352" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" } ], "biological_process": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "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": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" }, { "name": "intraciliary anterograde transport", "id": "GO:0035720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BKE9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Thr73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKE9", "url": "https://www.uniprot.org/uniprotkb/Q8BKE9" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q8BKE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKE9" } ] } ] } ], "record_id": "Q8BKE9-1" } ]